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和泉唯信

徳島大学

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2024年12月20日更新

職名: 教授
電話: 研究者総覧に該当データはありませんでした。
電子メール: yizumi@tokushima-u.ac.jp
学歴: ????/??: 北海道大学理学部数学科 ( - 1989. 3.)
????/??: 徳島大学医学部医学科 ( - 1995. 3.)
????/??: 広島大学大学院 ( - 2001. 3.)
学位: 医学博士 (広島大学) (2001年3月)
職歴・経歴: 〜: 徳島大学講師, 大学院ヘルスバイオサイエンス研究部 (-2008.3.)
2008/4: 徳島大学診療支援医師, 病院 (-2009.3.)
2008/5: 徳島大学講師, 医学部 (-2009.3.)
2009/4: 徳島大学診療支援医師, 病院 (-2010.3.)
2009/4: 徳島大学講師, 医学部 (-2010.3.)
2010/4: 徳島大学診療支援医師, 病院 (-2011.3.)
2010/4: 徳島大学講師, 医学部 (-2011.3.)
2011/4: 徳島大学診療支援医師, 病院 (-2011.5.)
2011/4: 徳島大学講師, 医学部 (-2012.3.)
2011/6: 徳島大学診療支援医師, 病院 (-2013.3.)
2012/4: 徳島大学非常勤講師, 医学部 (-2013.3.)
2013/4: 徳島大学診療支援医師, 病院 (-2014.3.)
2013/4: 徳島大学非常勤講師, 医学部 (-2014.3.)
2014/4: 徳島大学診療支援医師, 病院 (-2015.3.)
2014/4: 徳島大学非常勤講師, 医学部 (-2015.3.)
2015/4: 徳島大学診療支援医師, 病院 (-2016.9.)
2015/4: 徳島大学非常勤講師, 医学部 (-2017.3.)
2016/10: 徳島大学診療支援医師, 病院 (-2018.3.)
2017/4: 徳島大学非常勤講師, 医学部 (-2018.3.)
2018/4: 徳島大学特任講師, 病院 (-2020.1.)
2020/2: 徳島大学教授, 大学院医歯薬学研究部

専門分野・研究分野: ライフサイエンス (Life sciences) [神経内科学 (Neurology)]

研究者総覧で最新データを確認する

2024年12月20日更新

専門分野・研究分野: ライフサイエンス (Life sciences) [神経内科学 (Neurology)]
担当経験のある授業科目: ヘルスアセスメント特論 (大学院)
内科学第一 (学部)
医学概論 (共通教育)
感覚情報医学実験実習・臨床研究実習 (大学院)
疾病学1 (学部)
疾病論Ⅴ(脳神経疾患・外科疾患・麻酔) (学部)
神経・精神・行動コース (学部)
神経内科学 (学部)
神経内科学(4年) (学部)
脳と神経学概論 (大学院)
臨床医学 (学部)
臨床医科学概論 (大学院)
臨床病理学総論 (学部)
臨床神経科学 (大学院)
臨床神経科学演習 (大学院)
血液・内分泌・神経 (学部)
指導経験: 9人 (博士)

研究者総覧で最新データを確認する

2024年12月20日更新

専門分野・研究分野: ライフサイエンス (Life sciences) [神経内科学 (Neurology)]

研究テーマ: 研究者総覧に該当データはありませんでした。

著書

和泉唯信 :
2章7節1 筋萎縮性側索硬化症(ALS),
メディカ出版, 沖良祐, 大崎裕亮, 和泉唯信 :
運動ニューロン疾患，1．筋萎縮性側索硬化症(非遺伝性),
株式会社中外医学社, 2024年3月. 和泉唯信 :
12章認知症 5節その他の認知症疾患,
株式会社メディカ出版, 2024年3月. 和泉唯信 :
第12章神経・筋疾患，6神経系の疾患，6-6神経変性疾患,
医学出版社, 2024年3月. 和泉唯信 :
メージュ症候群,
株式会社医学書院, 2024年1月. 和泉唯信 :
2章7節16末梢神経障害(ニューロパチー),
株式会社メディカ出版, 2024年1月. 和泉唯信 :
2章7節13重症筋無力症,
株式会社メディカ出版, 2024年1月. 和泉唯信 :
2章7節9てんかん,
株式会社メディカ出版, 2024年1月. 和泉唯信 :
2章7節7筋ジストロフィー,
株式会社メディカ出版, 2024年1月. 和泉唯信 :
2章7節5髄膜炎,
株式会社メディカ出版, 2024年1月. 和泉唯信 :
2章7節4認知症,
株式会社メディカ出版, 2024年1月. 和泉唯信 :
2章7節3多発性硬化症,
株式会社メディカ出版, 2024年1月. 和泉唯信 :
15．神経・筋疾患アテトーゼ，ジストニア，片側バリズム,
2023年1月. 和泉唯信 :
2章7節16 末梢神経障害,
2023年1月. 和泉唯信 :
2章7節13 重症筋無力症,
2023年1月. 和泉唯信 :
2章7節9 てんかん,
2023年1月. 和泉唯信 :
2章7節7 筋ジストロフィー,
2023年1月. 和泉唯信 :
2章7節5 髄膜炎,
2023年1月. 和泉唯信 :
2章7節4 認知症,
2023年1月. 和泉唯信 :
2章7節3 多発性硬化症,
2023年1月. 和泉唯信 :
ナーシンググラフィカ疾病の成り立ちと回復の促進①病態生理学第7版,山内豊明編集, --- 2章7節2 パーキンソン病 ---,
株式会社メディカ出版, 大阪, 2023年1月. 和泉唯信 :
ナーシンググラフィカ疾病の成り立ちと回復の促進①病態生理学第7版,山内豊明編集, --- 2章7節1 筋萎縮性側索硬化症(ALS) ---,
株式会社メディカ出版, 大阪, 2023年1月. 沖良祐, 大崎裕亮, 和泉唯信 :
F運動ニューロン疾患筋萎縮性側索硬化症(非遺伝性),
株式会社中外医学社, 2022年1月. 和泉唯信 :
筋萎縮性側索硬化症,
株式会社医学書院, 2022年1月. 松井尚子, 和泉唯信 :
9．末梢神経障害多巣性運動ニューロパチー(MMN),
株式会社総合医学社, 2021年5月. 和泉唯信, 沖良祐 :
巻頭トピックス, 筋萎縮性側索硬化症に対する医師主導治験,
南江堂, 2021年2月. 高松直子, 和泉唯信 :
Ⅴ編その他の超音波 3章筋超音波検査,
一般社団法人日本脳神経超音波学会, 2020年8月. 和泉唯信 :
第10章神経疾患，ウェルニッケ脳症,
株式会社医学書院, 2020年. 和泉唯信 :
Ⅱ疾患編，2神経・筋疾患，ビタミン欠乏症(Wernicke脳症およびビタミンB12欠乏症),
株式会社医学書院, 2020年.

論文

Kenta Hanada, Yusuke Osaki, Ryosuke Miyamoto, Kohei Muto, Shotaro Haji, Keyoumu Nazere, Yuki Kuwano, Hiroyuki Morino, Yoshiteru Azuma, Satoko Miyatake, Naomichi Matsumoto and Yuishin Izumi :
Intermediate phenotype between CMT2Z and DIGFAN associated with a novel MORC2 variant: a case report.,
Human Genome Variation, Vol.11, No.1, 2024.

(要約): Charcot-Marie-Tooth disease type 2Z is caused by MORC2 mutations and presents with axonal neuropathy. MORC2 mutations can also manifest as developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy (DIGFAN). We report a patient exhibiting an intermediate phenotype between these diseases associated with a novel MORC2 variant. A literature review revealed that the genotype‒phenotype correlation in MORC2-related disorders is complex and that the same mutation can cause a variety of phenotypes.
(出版サイトへのリンク): ● Publication site (DOI): 10.1038/s41439-024-00287-8
(文献検索サイトへのリンク): ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 39143067; ● Search Scopus @ Elsevier (PMID): 39143067; ● Search Scopus @ Elsevier (DOI): 10.1038/s41439-024-00287-8

(DOI: 10.1038/s41439-024-00287-8, PubMed: 39143067) Satoko Miyatake, Hiroshi Doi, Hiroaki Yaguchi, Eriko Koshimizu, Naoki Kihara, Tomoyasu Matsubara, Yasuko Mori, Kenjiro Kunieda, Yusaku Shimizu, Tomoko Toyota, Shinichi Shirai, Masaaki Matsushima, Masaki Okubo, Taishi Wada, Misako Kunii, Ken Johkura, Ryosuke Miyamoto, Yusuke Osaki, Takabumi Miyama, Mai Satoh, Atsushi Fujita, Yuri Uchiyama, Naomi Tsuchida, Kazuharu Misawa, Kohei Hamanaka, Haruka Hamanoue, Takeshi Mizuguchi, Hiroyuki Morino, Yuishin Izumi, Takayoshi Shimohata, Kunihiro Yoshida, Hiroaki Adachi, Fumiaki Tanaka, Ichiro Yabe and Naomichi Matsumoto :
Complete nanopore repeat sequencing of SCA27B (GAA-FGF14 ataxia) in Japanese.,
Journal of Neurology, Neurosurgery, and Psychiatry, 2024.

(出版サイトへのリンク): ● Publication site (DOI): 10.1136/jnnp-2024-333541
(文献検索サイトへのリンク): ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 38816190; ● Search Scopus @ Elsevier (PMID): 38816190; ● Search Scopus @ Elsevier (DOI): 10.1136/jnnp-2024-333541

(DOI: 10.1136/jnnp-2024-333541, PubMed: 38816190) Hiroyuki Morino, Takashi Kurashige, Yukiko Matsuda, Maiko Ono, Naruhiko Sahara, Tomohiro Miyasaka, Yoshiyuki Soeda, Hitoshi Shimada, Yu Yamazaki, Tetsuya Takahashi, Yuishin Izumi, Hidefumi Ito, Hirofumi Maruyama, Makoto Higuchi, Koji Arihiro, Tetsuya Suhara, Akihiko Takashima and Hideshi Kawakami :
Clinical and Pathological Features of FTDP-17 with MAPT p.K298_H299insQ Mutation.,
Movement Disorders Clinical Practice, 2024.

(要約): This study confirmed that the insACA mutation caused FTDP-17. The affected patients showed symptoms resembling Parkinson's disease initially and symptoms of progressive supranuclear palsy later. Despite the initial clinical diagnosis of frontotemporal dementia in the autopsy case, the spread of lesions could explain the process of progressive supranuclear palsy. The study of more cases in the future will help clarify the common pathogenesis of MAPT mutations or specific pathogeneses of each mutation.
(出版サイトへのリンク): ● Publication site (DOI): 10.1002/mdc3.14042
(文献検索サイトへのリンク): ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 38605589; ● Search Scopus @ Elsevier (PMID): 38605589; ● Search Scopus @ Elsevier (DOI): 10.1002/mdc3.14042

(DOI: 10.1002/mdc3.14042, PubMed: 38605589) Koji Fukushima, T Yoshida, Hiroki Yamazaki, N Takamatsu, T Nagai, Yusuke Osaki, Masafumi Harada, I Nishino, N Okiyama, K Sugie and Yuishin Izumi :
A Case of Anti-NXP2 Antibody-positive Juvenile Dermatomyositis with Characteristic Fascial Thickening on Muscle Ultrasound and Improvement with Immunotherapy,
Internal Medicine, 2023.

(要約): We herein report a 12-year-old boy who presented with a fever, erythematous rash on the cheeks, back pain, and dysphagia. Blood tests revealed increased creatine kinase levels, and muscle ultrasonography (MUS) revealed characteristic fascial thickening in the lumbar paraspinal muscles, where myalgia was prominent. Sarcoplasmic expression of myxovirus-resistant protein A on a muscle biopsy and the presence of anti-nuclear matrix protein 2 (NXP2) antibodies confirmed the diagnosis of dermatomyositis. Prednisolone and intravenous immunoglobulin therapy improved the clinical and laboratory parameters as well as fascial thickening. MUS is useful for evaluating fasciitis associated with anti-NXP2 autoantibodies and monitoring therapeutic efficacy.
(出版サイトへのリンク): ● Publication site (DOI): 10.2169/internalmedicine.2720-23
(文献検索サイトへのリンク): ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 37926535; ● Search Scopus @ Elsevier (PMID): 37926535; ● Search Scopus @ Elsevier (DOI): 10.2169/internalmedicine.2720-23

(DOI: 10.2169/internalmedicine.2720-23, PubMed: 37926535) Naoko Matsui, Keiko Tanaka, Mitsuyo Ishida, Yohei Yamamoto, Yuri Matsubara, Reiko Saika, Takahiro Iizuka, Koshi Nakamura, Nagato Kuriyama, Makoto Matsui, Kokichi Arisawa, Yosikazu Nakamura, Ryuji Kaji, Satoshi Kuwabara and Yuishin Izumi :
Prevalence, Clinical Profiles, and Prognosis of Stiff-Person Syndrome in a Japanese Nationwide Survey.,
Neurology® Neuroimmunology & Neuroinflammation, Vol.10, No.6, e200165, 2023.

(要約): This study provides the current epidemiologic and clinical status of SPS in Japan. The symptom onset to the diagnosis of SPS was longer in patients with high-titer GAD65 antibodies than in those with low-titer GAD65 antibodies. The outcome of patients with SPS was generally favorable, but more aggressive immunotherapies are necessary for GAD65-positive patients with SPS.
(キーワード): Adult / Aged / Aged, 80 and over / Female / Humans / Male / Middle Aged / Antibodies / East Asian People / Glutamate Decarboxylase / Immunotherapy / Prevalence / Prognosis / Stiff-Person Syndrome
(徳島大学機関リポジトリ): ● Metadata: 118945
(出版サイトへのリンク): ● Publication site (DOI): 10.1212/NXI.0000000000200165
(文献検索サイトへのリンク): ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 37739810; ● Search Scopus @ Elsevier (PMID): 37739810; ● Search Scopus @ Elsevier (DOI): 10.1212/NXI.0000000000200165

(徳島大学機関リポジトリ: 118945, DOI: 10.1212/NXI.0000000000200165, PubMed: 37739810) Kenta Hanada, Yusuke Osaki, Koji Fujita, Tatsuya Fukumoto, Koji Fukushima, Hideki Kito and Yuishin Izumi :
Segmental Zoster Paresis Accompanied by Horner's Syndrome.,
Internal Medicine, Vol.62, No.18, 2743-2746, 2023.

(要約): We herein report a 90-year-old immunocompromised woman who developed right upper limb weakness and right ptosis with a miotic pupil 1 week after oral therapy for zoster on the right T2 dermatome. The right pupil was dilated with instillation of 1% apraclonidine, indicating Horner's syndrome. The patient was treated with intravenous acyclovir and methylprednisolone. Focal weakness related to zoster, generally known as segmental zoster paresis, improved over five months, but Horner's syndrome remained. We suggest that aggressive intravenous treatment should be considered for rare cases of zoster that occur with a combination of these two neurological conditions.
(キーワード): Aged, 80 and over / Female / Humans / Acyclovir / Blepharoptosis / Herpes Zoster / Horner Syndrome / Paresis
(徳島大学機関リポジトリ): ● Metadata: 119241
(出版サイトへのリンク): ● Publication site (DOI): 10.2169/internalmedicine.0578-22
(文献検索サイトへのリンク): ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 37722924; ● Search Scopus @ Elsevier (PMID): 37722924; ● Search Scopus @ Elsevier (DOI): 10.2169/internalmedicine.0578-22

(徳島大学機関リポジトリ: 119241, DOI: 10.2169/internalmedicine.0578-22, PubMed: 37722924) Takehisa Hirayama, Mari Shibukawa, Harumi Morioka, Masamichi Hozumi, Hiroshi Tsuda, Naoki Atsuta, Yuishin Izumi, Yuki Nakayama, Toshio Shimizu, Haruhisa Inoue, Makoto Urushitani, Koji Yamanaka, Masashi Aoki, Satoru Ebihara, Atsushi Takeda and Osamu Kano :
The necessity to improve disaster preparedness among patients with amyotrophic lateral sclerosis and their families.,
Journal of Clinical Neuroscience, Vol.116, 87-92, 2023.

(要約): Disaster preparation is an important issue for patients with amyotrophic lateral sclerosis (ALS). However, to the best of our knowledge, no studies have investigated disaster preparedness among patients with ALS. In this study, we aimed to investigate disaster preparation in patients with ALS and their caregivers, including their families, in Japan. We conducted a nationwide webinar in September 2022 titled "ALS Café" and distributed a self-report questionnaire to participants with questions about awareness of disaster preparedness, social countermeasures, stockpiles, and electricity demand. Forty-eight patients with ALS (27 male; average age 60.0 ± 9.3 years) and 23 caregivers (8 male; 55.7 ± 9.9 years) responded. The median revised ALS Functional Rating Scale score was 30.5, and 25% of the patients with ALS were on a ventilator. More than 70% of the respondents answered that they were not prepared for disasters, increasing to 89% in patients not using ventilators. In the event of their phones being down, 86% of the respondents had no plans for alternative means of communication. <30% of the respondents, including ventilator users, had secured human resources for transportation. Twenty-five percent of the respondents did not stockpile food and beverages, and 12% of the ventilator users had no government-recommended ventilator preparation equipment. Thus, although patients with ALS and their families with ventilators have a high awareness of disaster preparedness, their awareness remains insufficient. Furthermore, patients with ALS and their families without ventilators have a low awareness of disaster preparedness. Therefore, better education regarding disaster preparedness is necessary for these groups.
(キーワード): Humans / Male / Middle Aged / Aged / Amyotrophic Lateral Sclerosis / Communication / Disasters / Educational Status / 日本 (Japan)
(出版サイトへのリンク): ● Publication site (DOI): 10.1016/j.jocn.2023.08.002
(文献検索サイトへのリンク): ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 37659173; ● Search Scopus @ Elsevier (PMID): 37659173; ● Search Scopus @ Elsevier (DOI): 10.1016/j.jocn.2023.08.002

(DOI: 10.1016/j.jocn.2023.08.002, PubMed: 37659173) Yuki Yamamoto, Nobuaki Yamamoto, Tomohiro Matsuda, Kazutaka Kuroda, Izumi Yamaguchi, Shu Sogabe, Masaaki Korai, Kenji Shimada, Yasuhisa Kanematsu, Yasushi Takagi and Yuishin Izumi :
Stent retrieval for free-floating thrombus attached to carotid artery stenosis: A report of two cases.,
Surgical Neurology International, Vol.14, 274, 2023.

(要約): In cases of carotid artery stenosis with FFT, it is technically possible to retrieve a thrombus with a stent retriever. Although thrombus removal may help reduce the risk of ischemic complications in a series of urgent CAS procedures, there are concerns such as mechanical irritation to the carotid artery plaque, and its indications and alternative treatments should be carefully considered.
(徳島大学機関リポジトリ): ● Metadata: 119409
(出版サイトへのリンク): ● Publication site (DOI): 10.25259/SNI_513_2023
(文献検索サイトへのリンク): ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 37680937; ● Search Scopus @ Elsevier (PMID): 37680937; ● Search Scopus @ Elsevier (DOI): 10.25259/SNI_513_2023

(徳島大学機関リポジトリ: 119409, DOI: 10.25259/SNI_513_2023, PubMed: 37680937) Joji Fujikawa, Ryoma Morigaki, Kazuhisa Miyake, Taku Matsuda, Hiroshi Koyama, Teruo Oda, Nobuaki Yamamoto, Yuishin Izumi, Hideo Mure, Satoshi Goto and Yasushi Takagi :
Cranial geometry in patients with dystonia and Parkinson's disease.,
Scientific Reports, Vol.13, No.1, 2023.

(要約): Abnormal skull shape has been reported in brain disorders. However, no studies have investigated cranial geometry in neurodegenerative disorders. This study aimed to evaluate the cranial geometry of patients with dystonia or Parkinson's disease (PD). Cranial computed tomography images of 36 patients each with idiopathic dystonia (IDYS), PD, and chronic subdural hematoma (CSDH) were analyzed. Those with IDYS had a significantly higher occipital index (OI) than those with CSDH (p = 0.014). When cephalic index (CI) was divided into the normal and abnormal groups, there was a significant difference between those with IDYS and CSDH (p = 0.000, α = 0.017) and between PD and CSDH (p = 0.031, α = 0.033). The age of onset was significantly correlated with the CI of IDYS (τ = - 0.282, p = 0.016). The Burke-Fahn-Marsden Dystonia Rating Scale motor score (BFMDRS-M) showed a significant correlation with OI in IDYS (τ = 0.372, p = 0.002). The cranial geometry of patients with IDYS was significantly different from that of patients with CSDH. There was a significant correlation between age of onset and CI, as well as between BFMDRS-M and OI, suggesting that short heads in the growth phase and skull balance might be related to the genesis of dystonia and its effect on motor symptoms.
(キーワード): Humans / Dystonia / Parkinson Disease / Treatment Outcome / Deep Brain Stimulation / Dystonic Disorders / Skull / Hematoma, Subdural, Chronic / Globus Pallidus
(徳島大学機関リポジトリ): ● Metadata: 118394
(出版サイトへのリンク): ● Publication site (DOI): 10.1038/s41598-023-37833-3
(文献検索サイトへのリンク): ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 37420081; ● Search Scopus @ Elsevier (PMID): 37420081; ● Search Scopus @ Elsevier (DOI): 10.1038/s41598-023-37833-3

(徳島大学機関リポジトリ: 118394, DOI: 10.1038/s41598-023-37833-3, PubMed: 37420081) Kodai Kume, Takashi Kurashige, Keiko Muguruma, Hiroyuki Morino, Yui Tada, Mai Kikumoto, Tatsuo Miyamoto, Natsuko Silvia Akutsu, Yukiko Matsuda, Shinya Matsuura, Masahiro Nakamori, Ayumi Nishiyama, Rumiko Izumi, Tetsuya Niihori, Masashi Ogasawara, Nobuyuki Eura, Tamaki Kato, Mamoru Yokomura, Yoshiaki Nakayama, Hidefumi Ito, Masataka Nakamura, Kayoko Saito, Yuichi Riku, Yasushi Iwasaki, Hirofumi Maruyama, Yoko Aoki, Ichizo Nishino, Yuishin Izumi, Masashi Aoki and Hideshi Kawakami :
CGG repeat expansion in LRP12 in amyotrophic lateral sclerosis.,
American Journal of Human Genetics, Vol.110, No.7, 1086-1097, 2023.

(要約): Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder characterized by the degeneration of motor neurons. Although repeat expansion in C9orf72 is its most common cause, the pathogenesis of ALS isn't fully clear. In this study, we show that repeat expansion in LRP12, a causative variant of oculopharyngodistal myopathy type 1 (OPDM1), is a cause of ALS. We identify CGG repeat expansion in LRP12 in five families and two simplex individuals. These ALS individuals (LRP12-ALS) have 61-100 repeats, which contrasts with most OPDM individuals with repeat expansion in LRP12 (LRP12-OPDM), who have 100-200 repeats. Phosphorylated TDP-43 is present in the cytoplasm of iPS cell-derived motor neurons (iPSMNs) in LRP12-ALS, a finding that reproduces the pathological hallmark of ALS. RNA foci are more prominent in muscle and iPSMNs in LRP12-ALS than in LRP12-OPDM. Muscleblind-like 1 aggregates are observed only in OPDM muscle. In conclusion, CGG repeat expansions in LRP12 cause ALS and OPDM, depending on the length of the repeat. Our findings provide insight into the repeat length-dependent switching of phenotypes.
(キーワード): 神経変性 (neurodegeneration) / 遺伝学 (genetics) / 神経系 (nervous system) / 遺伝子疾患 (gene disorders) / 神経科学 (neuroscience)
(徳島大学機関リポジトリ): ● Metadata: 119214
(出版サイトへのリンク): ● Publication site (DOI): 10.1016/j.ajhg.2023.05.014
(文献検索サイトへのリンク): ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 37339631; ● Summary page in Scopus @ Elsevier: 2-s2.0-85164273883

(徳島大学機関リポジトリ: 119214, DOI: 10.1016/j.ajhg.2023.05.014, PubMed: 37339631, Elsevier: Scopus) Shotaro Haji, Ryosuke Miyamoto, Hiroyuki Morino, Yusuke Osaki, Seijiro Tsuji, Ichizo Nishino, Masahiro Abe and Yuishin Izumi :
Autosomal Recessive Spinocerebellar Ataxia Type 9 With a Response to Phosphate Repletion: A Case Report.,
Neurology. Genetics, Vol.9, No.3, e200070, 2023.

(要約): This provides Class IV evidence. This is a single observational study without controls.
(出版サイトへのリンク): ● Publication site (DOI): 10.1212/NXG.0000000000200070
(文献検索サイトへのリンク): ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 37529414; ● Search Scopus @ Elsevier (PMID): 37529414; ● Search Scopus @ Elsevier (DOI): 10.1212/NXG.0000000000200070

(DOI: 10.1212/NXG.0000000000200070, PubMed: 37529414) R Nakamura, G Tohnai, M Nakatochi, N Atsuta, H Watanabe, D Ito, M Katsuno, A Hirakawa, Yuishin Izumi, M Morita, T Hirayama, O Kano, K Kanai, N Hattori, A Taniguchi, N Suzuki, M Aoki, I Iwata, I Yabe, K Shibuya, S Kuwabara, M Oda, R Hashimoto, I Aiba, T Ishihara, O Onodera, T Yamashita, K Abe, K Mizoguchi, T Shimizu, Y Ikeda, T Yokota, K Hasegawa, F Tanaka, K Nakashima, Ryuji Kaji, JI Niwa, M Doyu, C Terao, S Ikegawa, K Fujimori, S Nakamura, F Ozawa, S Morimoto, K Onodera, T Ito, Y Okada, H Okano, G Sobue and Japanese Consortium for Amyotrophic Lateral Sclerosis research (JaCALS) study group :
Genetic factors affecting survival in Japanese patients with sporadic amyotrophic lateral sclerosis: a genome-wide association study and verification in iPSC-derived motor neurons from patients,
Journal of Neurology, Neurosurgery, and Psychiatry, Vol.94, No.10, 816-824, 2023.

(要約): Several genetic factors are associated with the pathogenesis of sporadic amyotrophic lateral sclerosis (ALS) and its phenotypes, such as disease progression. Here, in this study, we aimed to identify the genes that affect the survival of patients with sporadic ALS. We enrolled 1076 Japanese patients with sporadic ALS with imputed genotype data of 7 908 526 variants. We used Cox proportional hazards regression analysis with an additive model adjusted for sex, age at onset and the first two principal components calculated from genotyped data to conduct a genome-wide association study. We further analysed messenger RNA (mRNA) and phenotype expression in motor neurons derived from induced pluripotent stem cells (iPSC-MNs) of patients with ALS. Three novel loci were significantly associated with the survival of patients with sporadic ALS- at 5q31.3 (rs11738209, HR=2.36 (95% CI, 1.77 to 3.15), p=4.85×10), at 7p21.3 (rs2354952, 1.38 (95% CI, 1.24 to 1.55), p=1.61×10) and at 12q13.3 (rs60565245, 2.18 (95% CI, 1.66 to 2.86), p=2.35×10). and variants were associated with decreased mRNA expression of each gene in iPSC-MNs and reduced in vitro survival of iPSC-MNs obtained from patients with ALS. The iPSC-MN in vitro survival was reduced when the expression of and was partially disrupted. The rs60565245 was not associated with mRNA expression. We identified three loci associated with the survival of patients with sporadic ALS, decreased mRNA expression of and and the viability of iPSC-MNs from patients. The iPSC-MN model reflects the association between patient prognosis and genotype and can contribute to target screening and validation for therapeutic intervention.
(出版サイトへのリンク): ● Publication site (DOI): 10.1136/jnnp-2022-330851
(文献検索サイトへのリンク): ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 37142397; ● Search Scopus @ Elsevier (PMID): 37142397; ● Search Scopus @ Elsevier (DOI): 10.1136/jnnp-2022-330851

(DOI: 10.1136/jnnp-2022-330851, PubMed: 37142397) Yasuo Nakahara, Jun Mitsui, Hidetoshi Date, Joyce Kristine Porto, Yasuhiro Hayashi, Atsushi Yamashita, Yoshio Kusakabe, Takashi Matsukawa, Hiroyuki Ishiura, Tsutomu Yasuda, Atsushi Iwata, Jun Goto, Yaeko Ichikawa, Yoshio Momose, Yuji Takahashi, Tatsushi Toda, Rikifumi Ohta, Jun Yoshimura, Shinichi Morishita, K Emil Gustavsson, Darren Christy, Melissa Maczis, J Matthew Farrer, Han-Joon Kim, Sung-Sup Park, Beomseok Jeon, Jin Zhang, Weihong Gu, W Sonja Scholz, B Andrew Singleton, Henry Houlden, Ichiro Yabe, Hidenao Sasaki, Masaaki Matsushima, Hiroshi Takashima, Akio Kikuchi, Masashi Aoki, Kenju Hara, Akiyoshi Kakita, Mitsunori Yamada, Hitoshi Takahashi, Osamu Onodera, Masatoyo Nishizawa, Hirohisa Watanabe, Mizuki Ito, Gen Sobue, Kinya Ishikawa, Hidehiro Mizusawa, Kazuaki Kanai, Satoshi Kuwabara, Kimihito Arai, Shigeru Koyano, Yoshiyuki Kuroiwa, Kazuko Hasegawa, Tatsuhiko Yuasa, Kenichi Yasui, Kenji Nakashima, Hijiri Ito, Yuishin Izumi, Ryuji Kaji, Takeo Kato, Susumu Kusunoki, Yasushi Osaki, Masahiro Horiuchi, Ken Yamamoto, Mihoko Shimada, Taku Miyagawa, Yosuke Kawai, Nao Nishida, Katsushi Tokunaga, Alexandra Dürr, Alexis Brice, Alessandro Filla, Thomas Klockgether, Ullrich Wüllner, M Caroline Tanner, A Walter Kukull, M-Y Virginia Lee, Eliezer Masliah, A Phillip Low, Paola Sandroni, Laurie Ozelius, Tatiana Foroud and Shoji Tsuji :
Genome-wide association study identifies a new susceptibility locus in for Multiple System Atrophy.,
medRxiv : the preprint server for health sciences, 2023.

(要約): To elucidate the molecular basis of multiple system atrophy (MSA), a neurodegenerative disease, we conducted a genome-wide association study (GWAS) in a Japanese MSA case/control series followed by replication studies in Japanese, Korean, Chinese, European and North American samples. In the GWAS stage rs2303744 on chromosome 19 showed a suggestive association ( = 6.5 × 10 ) that was replicated in additional Japanese samples ( = 2.9 × 10 . OR = 1.58; 95% confidence interval, 1.30 to 1.91), and then confirmed as highly significant in a meta-analysis of East Asian population data ( = 5.0 × 10 . Odds ratio= 1.49; 95% CI 1.35 to 1.72). The association of rs2303744 with MSA remained significant in combined European/North American samples ( =0.023. Odds ratio=1.14; 95% CI 1.02 to 1.28) despite allele frequencies being quite different between these populations. rs2303744 leads to an amino acid substitution in that encodes the cPLA2γ lysophospholipase/transacylase. The cPLA2γ-Ile143 isoform encoded by the MSA risk allele has significantly decreased transacylase activity compared with the alternate cPLA2γ-Val143 isoform that may perturb membrane phospholipids and α-synuclein biology.
(出版サイトへのリンク): ● Publication site (DOI): 10.1101/2023.05.02.23289328
(文献検索サイトへのリンク): ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 37425910; ● Search Scopus @ Elsevier (PMID): 37425910; ● Search Scopus @ Elsevier (DOI): 10.1101/2023.05.02.23289328

(DOI: 10.1101/2023.05.02.23289328, PubMed: 37425910) Takeshi Yoshida, Hiroki Yamazaki, Y Nishimori, Naoko Takamatsu, Koji Fukushima, Yusuke Osaki, Y Taniguchi, T Nozaki, Y Kumon, J Albayda, I Nishino and Yuishin Izumi :
Correlation of muscle ultrasound with clinical and pathological findings in idiopathic inflammatory myopathies,
Muscle & Nerve, Vol.68, No.1, 39-47, 2023.

(要約): In idiopathic inflammatory myopathies (IIMs), the change in muscle echogenicity and its histopathological basis are not well understood. We quantitatively measured muscle echogenicity in patients with IIMs and evaluated its correlation with disease activity and histopathological findings. This study involved patients with IIMs who underwent both ultrasonography (US) and muscle biopsy, as well as age- and sex-matched rheumatoid arthritis patients as inflammatory disease controls. On US, axial images of the right biceps brachii and vastus medialis were obtained. Standardized histopathological scoring was used to quantitatively measure each pathological domain. Forty-two patients (17 with inclusion body myositis [IBM] and 25 with IIMs other than IBM) and 25 controls were included. The muscle echo intensity (EI) of patients with IIMs was significantly higher than that of controls. Muscle EI showed significant correlations with creatine kinase (r = 0.66, p < .001) and muscle strength (r = -0.73, p < .0001) in patients with non-IBM IIMs. In patients with IBM, moderate correlation was found between muscle EI and quadriceps muscle strength (r = -0.53, p = .028). Histopathologically, the number of infiltrating CD3+ inflammatory cells correlated with muscle EI in the non-IBM group (r = 0.56, p = .017), but not in the IBM group. Muscle EI may be useful as a surrogate marker of muscle inflammation in non-IBM IIM. Increased muscle EI may be difficult to interpret in patients with long-standing IBM, which has advanced and complex histopathology.
(キーワード): Humans / Myositis / Muscle, Skeletal / Myositis, Inclusion Body / Ultrasonography / Muscle Strength
(出版サイトへのリンク): ● Publication site (DOI): 10.1002/mus.27833
(文献検索サイトへのリンク): ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 37118940; ● Summary page in Scopus @ Elsevier: 2-s2.0-85158067048

(DOI: 10.1002/mus.27833, PubMed: 37118940, Elsevier: Scopus) M Higashihara, Hiroki Yamazaki, Yuishin Izumi, M Kobayashi, Hiroyuki Nodera, C Oishi, A Iwata, S Murayama, Ryuji Kaji and M Sonoo :
Far-field potential of the compound muscle action potential as a reliable marker in amyotrophic lateral sclerosis,
Muscle & Nerve, Vol.68, No.3, 257-263, 2023.

(要約): Reliable neurophysiological markers in amyotrophic lateral sclerosis (ALS) are of great interest. The compound muscle action potential (CMAP) amplitude has been a conventional marker, although it is greatly influenced by the electrode position. We propose the far-field potential of the CMAP (FFP-CMAP) as a new neurophysiological marker in ALS. Patients with ALS and age-matched healthy controls were enrolled. We used a proximal reference (pref) in addition to the conventional distal reference (dref). Routine CMAP was recorded from the belly-dref lead and FFP-CMAP from the dref-pref lead for the ulnar and tibial nerves. Multiple point stimulation motor unit number estimation (MUNE) was also examined in the ulnar nerve. Inter-rater reproducibility was evaluated by two examiners, and some patients were followed up every 3 mo for 1 y. We tested 17 patients with ALS and 10 controls. The amplitudes of routine CMAP and FFP-CMAP in the ulnar and tibial nerves, and hypothenar MUNE value in the ulnar nerve were significantly decreased in ALS compared to controls. Ulnar FFP-CMAP achieved the highest inter-rater intraclass correlation coefficient (ICC) value (0.942) when compared with routine CMAP (0.880) and MUNE (0.839). The tibial FFP-CMAP had a higher ICC value (0.986) than the routine CMAP (0.697). In this way, the FFP-CMAP showed high inter-rater reproducibility because its shape was not much influenced by the electrode position. During 1-y follow-up, decline of CMAP, FFP, and MUNE showed significant correlations with the Amyotrophic Lateral Sclerosis Functional Rating Scale - Revised (ALSFRS-R). The FFP-CMAP shows promise as a reliable marker for ALS.
(出版サイトへのリンク): ● Publication site (DOI): 10.1002/mus.27829
(文献検索サイトへのリンク): ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 37086196; ● Search Scopus @ Elsevier (PMID): 37086196; ● Search Scopus @ Elsevier (DOI): 10.1002/mus.27829

(DOI: 10.1002/mus.27829, PubMed: 37086196) Nobuaki Yamamoto, Kazutaka Kuroda, Yuki Yamamoto, Izumi Yamaguchi, Shu Sogabe, Kenji Shimada, Ryoma Morigaki, Yasuhisa Kanematsu, Yuishin Izumi and Yasushi Takagi :
Long-sheath Introducer-assisted Revascularization (L-SHARE) Technique for Treating Large-vessel Occlusion by a Giant Clot,
Internal Medicine, Vol.62, No.6, 909-913, 2023.

(要約): Revascularization for common carotid artery (CCA) occlusion might be difficult. We reported our strategy for revascularizing CCA occlusion by giant clots. A 94-year-old woman was transferred to our hospital because of right hemiparesis and aphasia. CCA occlusion and giant clots were detected on ultrasonography. We performed mechanical thrombectomy using a 9-Fr balloon-guiding catheter, stent retriever, and aspiration catheter through a 9-Fr long-sheath introducer [long-sheath introducer-assisted revascularization (L-SHARE) technique]. We successfully recanalized CCA occlusion using this method. The L-SHARE technique might be useful for recanalization of CCA occlusion.
(キーワード): mechanical thrombectomy / long-sheath introducer / giant clot / cerebral large-vessel occlusion
(徳島大学機関リポジトリ): ● Metadata: 118794
(出版サイトへのリンク): ● Publication site (DOI): 10.2169/internalmedicine.0089-22
(文献検索サイトへのリンク): ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 35945008; ● CiNii @ 国立情報学研究所 (CRID): 1390576900004177024; ● Search Scopus @ Elsevier (PMID): 35945008; ● Search Scopus @ Elsevier (DOI): 10.2169/internalmedicine.0089-22

(徳島大学機関リポジトリ: 118794, DOI: 10.2169/internalmedicine.0089-22, PubMed: 35945008, CiNii: 1390576900004177024) Wataru Sako, Shotaro Haji, Takashi Abe, Yusuke Osaki, Yuki Matsumoto, Masafumi Harada and Yuishin Izumi :
M1/precuneus ratio as a surrogate marker of upper motor neuron sign in ALS,
Journal of the Neurological Sciences, Vol.445, 120548, 2023.

(要約): To investigate whether primary motor cortex (M1) volume measured with an automated approach in MRI reflects upper motor neuron dysfunction and whether it can serve as a potential diagnostic and/or disease-tracking biomarker for amyotrophic lateral sclerosis (ALS). In this retrospective study, we enrolled 95 subjects, including 33 possible or laboratory supported probable ALS, 26 probable or definite ALS (Prob/Def), 2 primary lateral sclerosis patients, 8 progressive muscular atrophy patients, 19 normal controls (NC) and 7 ALS patients having a second structural MRI scan. Some subjects also underwent functional MRI. We calculated M1, primary sensory cortex, precuneus volumes, and total gray matter volume (TGMV) with FreeSurfer. The sensorimotor network (SMN) was identified using independent component analysis. The M1/precuneus ratio showed a significant difference between the NC and Prob/Def groups (p < 0.05). The diagnostic accuracy of the M1/precuneus ratio was moderate for distinguishing Prob/Def from NC (cutoff = 1.00, sensitivity = 0.42, specificity = 0.90). Two of eight cases without upper motor neuron dysfunction could be diagnosed with ALS using M1/precuneus ratio as a surrogate marker. A negative correlation between M1/precuneus ratio and functional activity was found in Brodmann area 6 in the SMN in all subjects. TGMV tended to decrease with disease progression (p = 0.04). The M1/precuneus volume ratio, associated with the SMN, may have potential as a surrogate biomarker of upper motor neuron dysfunction in ALS. Furthermore, TGMV may serve as an ALS disease-tracking biomarker.
(キーワード): Humans / Amyotrophic Lateral Sclerosis / Retrospective Studies / Magnetic Resonance Imaging / Parietal Lobe / Motor Cortex / Biomarkers / Motor Neurons / Motor Neuron Disease
(出版サイトへのリンク): ● Publication site (DOI): 10.1016/j.jns.2023.120548
(文献検索サイトへのリンク): ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 36640663; ● Search Scopus @ Elsevier (PMID): 36640663; ● Search Scopus @ Elsevier (DOI): 10.1016/j.jns.2023.120548

(DOI: 10.1016/j.jns.2023.120548, PubMed: 36640663) Shotaro Haji, Koji Fujita, Ryosuke Oki, Yusuke Osaki, Ryosuke Miyamoto, Hiroyuki Morino, Seiichi Nagano, Naoki Atsuta, Yuki Kanazawa, Yuki Matsumoto, Atsuko Arisawa, Hisashi Kawai, Yasutaka Sato, Satoshi Sakaguchi, Kenta Yagi, Tatsuto Hamatani, Tatsuo Kagimura, Hiroaki Yanagawa, Hideki Mochizuki, Manabu Doyu, Gen Sobue, Masafumi Harada and Yuishin Izumi :
An Exploratory Trial of EPI-589 in Amyotrophic Lateral Sclerosis (EPIC-ALS): Protocol for a Multicenter, Open-Labeled, 24-Week, Single-Group Study,
JMIR Research Protocols, Vol.12, e42032, 2023.

(要約): Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disorder, with its currently approved drugs, including riluzole and edaravone, showing limited therapeutic effects. Therefore, safe and effective drugs are urgently necessary. EPI-589 is an orally available, small-molecule, novel redox-active agent characterized by highly potent protective effects against oxidative stress with high blood-brain barrier permeability. Given the apparent oxidative stress and mitochondrial dysfunction involvement in the pathogenesis of ALS, EPI-589 may hold promise as a therapeutic agent. This protocol aims to describe the design and rationale for the EPI-589 Early Phase 2 Investigator-Initiated Clinical Trial for ALS (EPIC-ALS). EPIC-ALS is an explorative, open-labeled, single-arm trial that evaluates the safety and tolerability of EPI-589 in patients with ALS. This trial consists of 12-week run-in, 24-week treatment, and 4-week follow-up periods. Patients will receive 500 mg of EPI-589 3 times daily over the 24-week treatment period. Clinical assessments include the mean monthly change of Amyotrophic Lateral Sclerosis Functional Rating Scale-Revised total score. The biomarkers are selected to analyze the effect on oxidative stress and neuronal damage. The plasma biomarkers are 8-hydroxy-2'-deoxyguanosine (8-OHdG), 3-nitrotyrosine (3-NT), neurofilament light chain (NfL), phosphorylated neurofilament heavy chain (pNfH), homocysteine, and creatinine. The cerebrospinal fluid biomarkers are 8-OHdG, 3-NT, NfL, pNfH, and ornithine. The magnetic resonance biomarkers are fractional anisotropy in the corticospinal tract and N-acetylaspartate in the primary motor area. This trial began data collection in September 2021 and is expected to be completed in October 2023. This study can provide useful data to understand the characteristics of EPI-589. Japan Primary Registries Network jRCT2061210031; tinyurl.com/2p84emu6. DERR1-10.2196/42032.
(徳島大学機関リポジトリ): ● Metadata: 118866
(出版サイトへのリンク): ● Publication site (DOI): 10.2196/42032
(文献検索サイトへのリンク): ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 36716091; ● Summary page in Scopus @ Elsevier: 2-s2.0-85149143248

(徳島大学機関リポジトリ: 118866, DOI: 10.2196/42032, PubMed: 36716091, Elsevier: Scopus) 兼松康久, 山口泉, 石原学, 曽我部周, 宮本健志, 高麗雅章, 島田健司, 黒田一駿, 山本雄貴, 山本伸昭, 和泉唯信, 髙木康志 :
循環器病を防ぐために徳島県循環器病推進計画の中での急性期脳卒中診療の取り組み,
四国医学雑誌, Vol.78, No.5-6, 135-138, 2022年.

(要約): Cerebrovascular and cardiovascular disease are the main causes of death in Japan. The leading causes of the need for long-term care in Japan are also cerebrovascular and cardiovascular disease, which together account for more than one-fourth of the total. The Cerebrovascular and Cardiovascular Disease Control Act, of Japanese national law, was promulgated by a legislative act in 2018. On the basis of the Cerebrovascular and Cardiovascular Disease Control Act, the Ministry of Health, Labour and Welfare, Japan, published the Japanese National Plan for Promotion of Measures Against Cerebrovascular and Cardiovascular Disease (Japanese National Plan) in 2020. By the example of the Japanese National Plan, Tokushima prefecture established a cerebrovascular and cardiovascular disease countermeasure promotion plan to progress cerebrovascular and cardiovascular disease measures according to their own circumstances. One of the important measures of the plan is improving emergency transportation systems. Patients with intracranial large vessel occlusion strokes should be served by direct transfer to endovascular capable centers avoiding delays by misguided transfer to primary stroke centers. Considering the limited availability of endovascular capable centers, accurate identification of patients with high probability of having large vessel occlusion strokes in the prehospital setting is importance. To address this problem, we introduced prehospital scale called Field Assessment Stroke Triage for Emergency Destination (FAST-ED) on emergency transportation systems in Tokushima city.
(キーワード): Cerebrovascular and cardiovascular disease / emergency transportation systems / prehospital scale
(文献検索サイトへのリンク): ● CiNii @ 国立情報学研究所 (CRID): 1520858387633637376

(CiNii: 1520858387633637376) 亀井友志, 武藤浩平, 山本雄貴, 藤田浩司, 和泉唯信, 原倫世 :
重症筋無力症との鑑別を要したクッシング病の1例,
四国医学雑誌, Vol.78, No.5-6, 221-226, 2022年.

(要約): The patient is a 77-year-old woman with a history of diabetes mellitus that was refractory to the medication and dietary restrictions. Four months prior to the admission, she developed a dropped head and ptosis that worsened in the evening. These symptoms were improved by the edrophonium test and the 3 Hz repetitive nerve stimulation testing was positive ; nevertheless, anti-acetylcholine and anti-muscle-specific tyrosine kinase antibodies were negative. Further examination demonstrated sustained hypokalemia and high levels of cortisol and ACTH. Moreover, CRH and high-dose dexamethasone suppression testings were positive and MRI demonstrated pituitary microadenoma. Based on these findings, she was subsequently diagnosed with Cushing's disease. After the resection of the pituitary tumor, ptosis improved with an alleviation of systemic edema, suggesting that it was caused by an eyelid edema. This case uniquely illustrates that Cushing's disease may mimic myasthenia gravis. Differentiation of the two disorders is crucial as treatment with steroids could compromise the interpretation of diagnostic testings for Cushing's disease and might result in a disease exacerbation. In this case, the history of treatment-refractory diabetes mellitus was helpful cue to differentiate the two disorders.
(キーワード): Cushing's disease / Myasthenia gravis / Dropped head / Ptosis / Eyelid edema

松下知樹, 笠井嘉人, 新家崇義, 原田雅史, 武藤浩平, 土師正太郎, 和泉唯信 :
低Na血症を合併した抗LGI1抗体陽性辺縁系脳炎の一例,
四国医学雑誌, Vol.78, No.5-6, 246-247, 2022年. 黒田一駿, 山本雄貴, 山本伸昭, 和泉唯信, 山口泉, 島田健司, 兼松康久, 宮本健志, 髙木康志 :
脳静脈洞血栓症に対して経皮的血栓回収術を行った3例,
四国医学雑誌, Vol.78, No.5-6, 221-226, 2022年. 山本雄貴, 山本伸昭, 黒田一駿, 和泉唯信, 兼松康久, 山口泉, 曽我部周, 高麗雅章, 島田健司, 髙木康志 :
徳島市におけるアプリケーションを用いた脳主幹動脈閉塞診断スケールの活用,,
四国医学雑誌, Vol.78, No.5,6, 248-249, 2022年. Takeshi Yoshida, Y Kumon, N Takamatsu, T Nozaki, M Inoue, J Albayda and Yuishin Izumi :
Application of z-score-based quantification of muscle echogenicity for the diagnosis of sarcopenia in patients with rheumatoid arthritis,
Geriatrics & Gerontology International, Vol.22, No.12, 1055-1057, 2022.

(キーワード): Humans / Sarcopenia / Arthritis, Rheumatoid / Muscle, Skeletal / Ultrasonography
(出版サイトへのリンク): ● Publication site (DOI): 10.1111/ggi.14507
(文献検索サイトへのリンク): ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 36347628; ● Search Scopus @ Elsevier (PMID): 36347628; ● Search Scopus @ Elsevier (DOI): 10.1111/ggi.14507

(DOI: 10.1111/ggi.14507, PubMed: 36347628) M Sakamoto, K Iwama, M Sasaki, A Ishiyama, H Komaki, T Saito, E Takeshita, Y Shimizu-Motohashi, K Haginoya, T Kobayashi, T Goto, Y Tsuyusaki, M Iai, K Kurosawa, H Osaka, J Tohyama, Y Kobayashi, N Okamoto, Y Suzuki, S Kumada, K Inoue, H Mashimo, A Arisaka, I Kuki, H Saijo, K Yokochi, M Kato, Y Inaba, Y Gomi, S Saitoh, K Shirai, M Morimoto, Yuishin Izumi, Y Watanabe, SI Nagamitsu, Y Sakai, S Fukumura, K Muramatsu, T Ogata, K Yamada, K Ishigaki, K Hirasawa, K Shimoda, M Akasaka, K Kohashi, T Sakakibara, M Ikuno, N Sugino, T Yonekawa, S Gürsoy, T Cinleti, CA Kim, KW Teik, CM Yan, M Haniffa, C Ohba, S Ito, H Saitsu, K Saida, N Tsuchida, Y Uchiyama, E Koshimizu, A Fujita, K Hamanaka, K Misawa, S Miyatake, T Mizuguchi, N Miyake and N Matsumoto :
Genetic and clinical landscape of childhood cerebellar hypoplasia and atrophy,
Genetics in Medicine, Vol.24, No.12, 2453-2463, 2022.

(要約): Cerebellar hypoplasia and atrophy (CBHA) in children is an extremely heterogeneous group of disorders, but few comprehensive genetic studies have been reported. Comprehensive genetic analysis of CBHA patients may help differentiating atrophy and hypoplasia and potentially improve their prognostic aspects. Patients with CBHA in 176 families were genetically examined using exome sequencing. Patients with disease-causing variants were clinically evaluated. Disease-causing variants were identified in 96 of the 176 families (54.5%). After excluding 6 families, 48 patients from 42 families were categorized as having syndromic associations with CBHA, whereas the remaining 51 patients from 48 families had isolated CBHA. In 51 patients, 26 aberrant genes were identified, of which, 20 (76.9%) caused disease in 1 family each. The most prevalent genes were CACNA1A, ITPR1, and KIF1A. Of the 26 aberrant genes, 21 and 1 were functionally annotated to atrophy and hypoplasia, respectively. CBHA+S was more clinically severe than CBHA-S. Notably, ARG1 and FOLR1 variants were identified in 2 families, leading to medical treatments. A wide genetic and clinical diversity of CBHA was revealed through exome sequencing in this cohort, which highlights the importance of comprehensive genetic analyses. Furthermore, molecular-based treatment was available for 2 families.
(キーワード): Child / Humans / Exome / Mutation / Nervous System Malformations / Atrophy / Folate Receptor 1 / Kinesins
(出版サイトへのリンク): ● Publication site (DOI): 10.1016/j.gim.2022.08.007
(文献検索サイトへのリンク): ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 36305856; ● Search Scopus @ Elsevier (PMID): 36305856; ● Search Scopus @ Elsevier (DOI): 10.1016/j.gim.2022.08.007

(DOI: 10.1016/j.gim.2022.08.007, PubMed: 36305856) Ryuji Kaji, Ai Miyashiro, Nori Sato, Taiki Furumoto, Toshiaki Takeuchi, Ryosuke Miyamoto, Tomoko Kohda, Yuishin Izumi and Shunji Kozaki :
A Pilot Study of A2NTX, a Novel Low-Molecular-Weight Neurotoxin Derived from Subtype A2 for Post-Stroke Lower Limb Spasticity: Comparison with OnabotulinumtoxinA.,
Toxins, Vol.14, No.11, 2022.

(要約): = 0.002), but was unaffected in the A2NTX-injected group by day 60, suggesting there was less spread of A2NTX to the upper limb than there was with BOTOX. Being a small-sized pilot investigation with an imbalance in the gender of the subjects, the present study suggested superior efficacy and safety of A2NTX, and warrants a larger scale clinical trial of A2NTX to confirm these preliminary results.
(キーワード): Humans / Botulinum Toxins, Type A / Hand Strength / Lower Extremity / Muscle Spasticity / Neuromuscular Agents / Neurotoxins / Pilot Projects / Stroke / Treatment Outcome
(徳島大学機関リポジトリ): ● Metadata: 118076
(出版サイトへのリンク): ● Publication site (DOI): 10.3390/toxins14110739
(文献検索サイトへのリンク): ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 36355989; ● Search Scopus @ Elsevier (PMID): 36355989; ● Search Scopus @ Elsevier (DOI): 10.3390/toxins14110739

(徳島大学機関リポジトリ: 118076, DOI: 10.3390/toxins14110739, PubMed: 36355989) K Imamura, Yuishin Izumi, M Nagai, K Nishiyama, Y Watanabe, R Hanajima, N Egawa, T Ayaki, R Oki, Koji Fujita, R Uozumi, A Morinaga, T Hirohashi, Y Fujii, T Yamamoto, H Tatebe, T Tokuda, N Takahashi, S Morita, R Takahashi and H Inoue :
Safety and tolerability of bosutinib in patients with amyotrophic lateral sclerosis (iDReAM study): A multicentre, open-label, dose-escalation phase 1 trial,
eClinicalMedicine, Vol.53, 101707, 2022.

(要約): Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease caused by the loss of motor neurons, and development of effective medicines is urgently required. Induced pluripotent stem cell (iPSC)-based drug repurposing identified the Src/c-Abl inhibitor bosutinib, which is approved for the treatment of chronic myelogenous leukemia (CML), as a candidate for the molecular targeted therapy of ALS. An open-label, multicentre, dose-escalation phase 1 study using a 3 + 3 design was conducted in 4 hospitals in Japan to evaluate the safety and tolerability of bosutinib in patients with ALS. Furthermore, the exploratory efficacy was evaluated using Revised ALS Functional Rating Scale (ALSFRS-R), predictive biomarkers including plasma neurofilament light chain (NFL) were explored, and single-cell RNA sequencing of iPSC-derived motor neurons was conducted. Patients, whose total ALSFRS-R scores decreased by 1-3 points during the 12-week, received escalating doses starting from 100 mg quaque die (QD) up to 400 mg QD based on dose-limiting toxicity (DLT) occurrence, and all participants who received one dose of the study drug were included in the primary analysis. This trial is registered with ClinicalTrials.gov, NCT04744532, as Induced pluripotent stem cell-based Drug Repurposing for Amyotrophic Lateral Sclerosis Medicine (iDReAM) study. Between March 29, 2019 and May 7, 2021, 20 patients were enrolled, 13 of whom received bosutinib treatment and 12 were included in the safety and efficacy analyses. No DLTs were observed up to 300 mg QD, but DLTs were observed in 3/3 patients of the 400 mg QD cohort. In all patients receiving 100 mg-400 mg, the prevalent adverse events (AEs) were gastrointestinal AEs in 12 patients (92.3%), liver function related AEs in 7 patients (53.8%), and rash in 3 patients (23.1%). The safety profile was consistent with that known for CML treatment, and ALS-specific AEs were not observed. A subset of patients (5/9 patients) was found to respond well to bosutinib treatment over the 12-week treatment period. It was found that the treatment-responsive patients could be distinguished by their lower levels of plasma NFL. Furthermore, single-cell RNA sequencing of iPSC-derived motor neurons revealed the pathogenesis related molecular signature in patients with ALS showing responsiveness to bosutinib. This is the first trial of a Src/c-Abl inhibitor, bosutinib, for patients with ALS. The safety and tolerability of bosutinib up to 300 mg, not 400 mg, in ALS were described, and responsiveness of patients on motor function was observed. Since this was an open-label trial within a short period with a limited number of patients, further clinical trials will be required. AMED and iPS Cell Research Fund.
(徳島大学機関リポジトリ): ● Metadata: 118726
(出版サイトへのリンク): ● Publication site (DOI): 10.1016/j.eclinm.2022.101707
(文献検索サイトへのリンク): ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 36467452; ● Search Scopus @ Elsevier (PMID): 36467452; ● Search Scopus @ Elsevier (DOI): 10.1016/j.eclinm.2022.101707

(徳島大学機関リポジトリ: 118726, DOI: 10.1016/j.eclinm.2022.101707, PubMed: 36467452) Naoko Matsui, Mika Takahara, Hiroki Yamazaki, Naoko Takamatsu, Yusuke Osaki, Ryuji Kaji, Ichizo Nishino, Satoshi Yamashita and Yuishin Izumi :
A case of anti-NT5c1A antibody-seropositive inclusion body myositis associated with severe dysphagia and prominent forearm weakness,
Neurology and Clinical Neuroscience, Vol.11, No.1, 46-48, 2022.

(出版サイトへのリンク): ● Publication site (DOI): 10.1111/ncn3.12678
(文献検索サイトへのリンク): ● Search Scopus @ Elsevier (DOI): 10.1111/ncn3.12678

(DOI: 10.1111/ncn3.12678) S Yokoi, T Ito, K Sahashi, M Nakatochi, R Nakamura, G Tohnai, Y Fujioka, S Ishigaki, T Udagawa, Yuishin Izumi, M Morita, O Kano, M Oda, T Sone, H Okano, N Atsuta, M Katsuno, Y Okada and G Sobue :
The SYNGAP1 3'UTR variant in ALS patients causes aberrant SYNGAP1 splicing and dendritic spine loss by recruiting HNRNPK,
The Journal of Neuroscience, Vol.42, No.47, 8881-8896, 2022.

(要約): Fused in sarcoma (FUS) is a pathogenic RNA-binding protein in amyotrophic lateral sclerosis (ALS). We previously reported that FUS stabilizes Synaptic Ras-GTPase activating protein 1 () mRNA at its 3' untranslated region (UTR) and maintains spine maturation. To elucidate the pathologic roles of this mechanism in ALS patients, we identified the 3'UTR variant rs149438267 in seven (four males and three females) out of 807 ALS patients at the FUS binding site from a multicenter cohort in Japan. Human-induced pluripotent stem cell (hiPSC)-derived motor neurons with the variant showed aberrant splicing, increased isoform α1 levels, and decreased isoform γ levels, which caused dendritic spine loss. Moreover, the variant excessively recruited FUS and heterogeneous nuclear ribonucleoprotein K (HNRNPK), and antisense oligonucleotides (ASOs) blocking HNRNPK altered aberrant splicing and ameliorated dendritic spine loss. These data suggest that excessive recruitment of RNA-binding proteins, especially HNRNPK, as well as changes in isoforms, are crucial for spine formation in motor neurons. It is not yet known which RNAs cause the pathogenesis of amyotrophic lateral sclerosis (ALS). We previously reported that Fused in sarcoma (FUS), a pathogenic RNA-binding protein in ALS, stabilizes synaptic Ras-GTPase activating protein 1 () mRNA at its 3' untranslated region (UTR) and maintains dendritic spine maturation. To elucidate whether this mechanism is crucial for ALS, we identified the 3'UTR variant rs149438267 at the FUS binding site. Human-induced pluripotent stem cell (hiPSC)-derived motor neurons with the variant showed aberrant splicing, which caused dendritic spine loss along with excessive recruitment of FUS and heterogeneous nuclear ribonucleoprotein K (HNRNPK). Our findings that dendritic spine loss is because of excess recruitment of RNA-binding proteins provide a basis for the future exploration of ALS-related RNA-binding proteins.
(キーワード): Male / Female / Humans / Amyotrophic Lateral Sclerosis / 3' Untranslated Regions / RNA-Binding Protein FUS / Heterogeneous-Nuclear Ribonucleoprotein K / Dendritic Spines / Mutation / RNA-Binding Proteins / RNA, Messenger / Protein Isoforms / GTPase-Activating Proteins / Sarcoma / ras GTPase-Activating Proteins
(徳島大学機関リポジトリ): ● Metadata: 118915
(出版サイトへのリンク): ● Publication site (DOI): 10.1523/JNEUROSCI.0455-22.2022
(文献検索サイトへのリンク): ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 36261283; ● Search Scopus @ Elsevier (PMID): 36261283; ● Search Scopus @ Elsevier (DOI): 10.1523/JNEUROSCI.0455-22.2022

(徳島大学機関リポジトリ: 118915, DOI: 10.1523/JNEUROSCI.0455-22.2022, PubMed: 36261283) Y Tada, K Kume, S Noguchi, T Sekiya, K Nishinaka, H Ishiguchi, J Koh, S Emori, Y Nakayama, T Kurashige, Yuishin Izumi, H Ito, N Sakai and H Kawakami :
Comparison of two families with and without ataxia harboring novel variants in PRKCG,
Journal of Human Genetics, Vol.67, No.10, 595-599, 2022.

(要約): Spinocerebellar ataxia type 14 (SCA14) is an autosomal dominant SCA caused by variants of the PRKCG encoding protein kinase C gamma (PKCγ). Although the toxic gain-of-function mechanism is the main cause of SCA14, its molecular pathophysiology remains unclear. To elucidate the molecular pathogenesis of SCA14, we analyzed two families with the variants in PRKCG. Clinical symptoms and neurological findings of two Japanese families were evaluated by neurologists. Exome sequencing was performed using the BGI platform. GFP-tagged PRKCGs harboring the identified variants were transfected into the HeLa cells, and aggregation of PKCγ was analyzed using confocal laser microscopy. Solubility of PKCγ was evaluated by assessing the proportion of insoluble fraction present in1% Triton-X. Patients in family 1 presented with only cerebellar atrophy without ataxia; however, patients in family 2 exhibited cerebellar ataxia, dystonia, and more severe cerebellar atrophy than those in family 1. Exome sequencing identified two novel missense variants of PRKCG:c.171 G > C,p.W57C (family 1), and c.400 T > C,p.C134R (family 2). Both the mutant PKCγ aggregated in the cytoplasm. Although the solubility of PKCγ of the C134R variant was lower than that of the wild-type, PKCγ of W57C retained its solubility. In conclusion, we identified two novel variants of PRKCG. The difference in severity between the two families may be due to the difference in solubility changes observed between the two variants. Decreased solubility of the PKCγ may play an important role in the pathogenesis of SCA14.
(キーワード): Atrophy / Cerebellar Ataxia / HeLa Cells / Humans / Protein Kinase C / Spinocerebellar Ataxias
(出版サイトへのリンク): ● Publication site (DOI): 10.1038/s10038-022-01057-6
(文献検索サイトへのリンク): ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 35760954; ● Search Scopus @ Elsevier (PMID): 35760954; ● Search Scopus @ Elsevier (DOI): 10.1038/s10038-022-01057-6

(DOI: 10.1038/s10038-022-01057-6, PubMed: 35760954) Y Tada, K Kume, S Noguchi, T Sekiya, K Nishinaka, H Ishiguchi, J Koh, S Emori, Y Nakayama, T Kurashige, Yuishin Izumi, H Ito, N Sakai and H Kawakami :
Correction: Comparison of two families with and without ataxia harboring novel variants in PRKCG,
Journal of Human Genetics, Vol.67, No.10, 621, 2022.

(出版サイトへのリンク): ● Publication site (DOI): 10.1038/s10038-022-01064-7
(文献検索サイトへのリンク): ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 35794208; ● Search Scopus @ Elsevier (PMID): 35794208; ● Search Scopus @ Elsevier (DOI): 10.1038/s10038-022-01064-7

(DOI: 10.1038/s10038-022-01064-7, PubMed: 35794208) M Chuluunbat, D Matsuda, Koji Fujita, M Otomo, Youichi Otomi, K Kudo, Masafumi Harada and Yuishin Izumi :
Identification and validation of a gray matter volume network in Alzheimer's disease,
Journal of the Neurological Sciences, Vol.440, 120344, 2022.

(要約): This study aims to identify and validate a gray matter volume network in patients with Alzheimer's disease (AD). To identify a disease-related network, a principal component analysis-based algorithm, Scaled Subprofile Model, was applied to gray matter volume data derived from structural T1-weighted magnetic resonance imaging of the training sample that consisted of nine patients with AD (women, four; dementia, seven; mild cognitive impairment, two; age, 66.7 ± 8.8 [mean ± SD] years) with positive F-flutemetamol amyloid positron emission tomography and eight age-matched healthy controls obtained on-site. The network expression scores were calculated by topographic profile rating in the validation sample obtained via the Open Access Series of Imaging Studies and comprised 12 patients with AD dementia (women, four; age, 70.0 ± 3.7 years) and 12 age-matched healthy controls. A significant network from the training sample, for which subject expression differed between the groups (permutation test, P = 0.006; sensitivity and specificity, 100%; area under the curve, 1), was identified. This network was represented by the principal components 1, 2, and 3 and showed a relative decrease in the inferior parietal lobule including angular gyrus, inferior temporal gyrus, premotor cortex, amygdala, hippocampus, and precuneus. It significantly differed between the groups with a sensitivity, specificity, and area under the curve of 83%, 91%, and 0.85, respectively, in the validation sample (P = 0.003). An AD-related gray matter volume network that captured relevant regions was identified in amyloid positron emission tomography-positive patients and validated in an independent sample.
(キーワード): Aged / Alzheimer Disease / Amyloid / Brain / Cognitive Dysfunction / Female / Gray Matter / Humans / Magnetic Resonance Imaging / Male / Middle Aged / Positron-Emission Tomography
(徳島大学機関リポジトリ): ● Metadata: 119325
(出版サイトへのリンク): ● Publication site (DOI): 10.1016/j.jns.2022.120344
(文献検索サイトへのリンク): ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 35908305; ● Search Scopus @ Elsevier (PMID): 35908305; ● Search Scopus @ Elsevier (DOI): 10.1016/j.jns.2022.120344

(徳島大学機関リポジトリ: 119325, DOI: 10.1016/j.jns.2022.120344, PubMed: 35908305) Takeshi Yoshida, Y Kumon, N Takamatsu, T Nozaki, M Inoue, Hiroyuki Nodera, J Albayda and Yuishin Izumi :
Ultrasound assessment of sarcopenia in patients with rheumatoid arthritis,
Modern Rheumatology, Vol.32, No.4, 728-735, 2022.

(要約): To evaluate the efficacy of ultrasound (US) as a diagnostic tool for sarcopenia in patients with rheumatoid arthritis (RA). Female RA patients aged >50 years and matched controls were cross-sectionally assessed. Sarcopenia was diagnosed based on the 2019-updated Asian Working Group for Sarcopenia definition. The cross-sectional area (CSA) and echo intensity (EI) of the biceps brachii, rectus femoris, and EI of the vastus lateralis were examined bilaterally. Correction for subcutaneous fat and calculation of the recorrected EI (rcEI) were performed. We performed logistic regression using both muscle rcEI and CSA with receiver operating curve analysis to evaluate the discriminative performance per muscle group. Seventy-eight consecutive RA patients and 15 age-and sex-matched controls were assessed. Sarcopenia was diagnosed in 34 RA patients (43.6%). The rcEI of examined muscles were significantly higher, whereas CSA were significantly lower in sarcopenic RA patients than in non-sarcopenic patients and matched controls. The combined discriminative performance of rcEI and CSA was superior to those of rcEI or CSA alone. This study suggests the use of US for the diagnosis of sarcopenia in RA patients. The diagnostic performance increases when both echogenicity and CSA are considered together rather than individually.
(キーワード): Arthritis, Rheumatoid / Female / Humans / Muscle, Skeletal / Sarcopenia / Ultrasonography
(出版サイトへのリンク): ● Publication site (DOI): 10.1093/mr/roab049
(文献検索サイトへのリンク): ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 34897497; ● Search Scopus @ Elsevier (PMID): 34897497; ● Search Scopus @ Elsevier (DOI): 10.1093/mr/roab049

(DOI: 10.1093/mr/roab049, PubMed: 34897497) Takashi Kurashige, Hiroyuki Morino, Tomomi Murao, Yuishin Izumi, Tomohito Sugiura, Kazuya Kuraoka, Hideshi Kawakami, Tsuyoshi Torii and Hirofumi Maruyama :
TDP-43 Accumulation Within Intramuscular Nerve Bundles of Patients With Amyotrophic Lateral Sclerosis.,
JAMA Neurology, Vol.79, No.7, 693-701, 2022.

(要約): Results of this dual case-control and retrospective cohort study suggest that axonal pTDP-43 accumulations may be characteristic for patients with ALS. As such findings precede clinical fulfillment of the Gold Coast criteria, TDP-43 in nerve bundles may be a novel diagnostic biomarker for ALS.
(キーワード): Aged / Amyotrophic Lateral Sclerosis / Case-Control Studies / Cohort Studies / DNA-Binding Proteins / Humans / Male / Middle Aged / Retrospective Studies
(出版サイトへのリンク): ● Publication site (DOI): 10.1001/jamaneurol.2022.1113
(文献検索サイトへのリンク): ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 35604654; ● Search Scopus @ Elsevier (PMID): 35604654; ● Search Scopus @ Elsevier (DOI): 10.1001/jamaneurol.2022.1113

(DOI: 10.1001/jamaneurol.2022.1113, PubMed: 35604654) Hiroki Yamazaki, Naoko Matsui, N Takamatsu, Takeshi Yoshida, Koji Fukushima, T Takata, Yusuke Osaki, K Tanaka, Y Kubo and Yuishin Izumi :
Application of ultrasound in a case of eosinophilic fasciitis mimicking stiff-person syndrome,
Neuromuscular Disorders, Vol.32, No.7, 590-593, 2022.

(要約): Eosinophilic fasciitis (EF) is a rare disorder characterized by muscle stiffness mimicking other neuromuscular diseases. The diagnosis of EF is made on the basis of typical skin lesions. We report a case of a 36-year-old male patient with suspected stiff-person syndrome (SPS), who presented with progressive limb muscle stiffness and limited mobility of both wrists without obvious skin changes. Ultrasound revealed fascial thickening of bilateral upper and lower limb muscles and enlargement of hypoechoic tissues around the flexor digitorum tendons of the wrist. Skin and fascia biopsy confirmed the diagnosis of EF. Prednisolone therapy resulted in the improvement of muscle stiffness and tightness. Our findings suggest the need to consider connective tissue diseases such as EF in a patient with atypical features of SPS. Ultrasound is helpful for visualizing the causes of muscle stiffness and joint contractures in EF patients.
(キーワード): Adult / Eosinophilia / Fasciitis / Humans / Male / Prednisolone / Stiff-Person Syndrome
(出版サイトへのリンク): ● Publication site (DOI): 10.1016/j.nmd.2022.05.009
(文献検索サイトへのリンク): ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 35672204; ● Search Scopus @ Elsevier (PMID): 35672204; ● Search Scopus @ Elsevier (DOI): 10.1016/j.nmd.2022.05.009

(DOI: 10.1016/j.nmd.2022.05.009, PubMed: 35672204) J Fujikawa, Ryoma Morigaki, Nobuaki Yamamoto, H Nakanishi, T Oda, Yuishin Izumi and Yasushi Takagi :
Diagnosis and Treatment of Tremor in Parkinson's Disease Using Mechanical Devices,
Life, Vol.13, No.1, 78, 2022.

(要約): Parkinsonian tremors are sometimes confused with essential tremors or other conditions. Recently, researchers conducted several studies on tremor evaluation using wearable sensors and devices, which may support accurate diagnosis. Mechanical devices are also commonly used to treat tremors and have been actively researched and developed. Here, we aimed to review recent progress and the efficacy of the devices related to Parkinsonian tremors. The PubMed and Scopus databases were searched for articles. We searched for "Parkinson disease" and "tremor" and "device". Eighty-six articles were selected by our systematic approach. Many studies demonstrated that the diagnosis and evaluation of tremors in patients with PD can be done accurately by machine learning algorithms. Mechanical devices for tremor suppression include deep brain stimulation (DBS), electrical muscle stimulation, and orthosis. In recent years, adaptive DBS and optimization of stimulation parameters have been studied to further improve treatment efficacy. Due to developments using state-of-the-art techniques, effectiveness in diagnosing and evaluating tremor and suppressing it using these devices is satisfactorily high in many studies. However, other than DBS, no devices are in practical use. To acquire high-level evidence, large-scale studies and randomized controlled trials are needed for these devices.
(徳島大学機関リポジトリ): ● Metadata: 118913
(出版サイトへのリンク): ● Publication site (DOI): 10.3390/life13010078
(文献検索サイトへのリンク): ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 36676025; ● Search Scopus @ Elsevier (PMID): 36676025; ● Search Scopus @ Elsevier (DOI): 10.3390/life13010078

(徳島大学機関リポジトリ: 118913, DOI: 10.3390/life13010078, PubMed: 36676025) 望月秀樹, 青木正志, 池中建介, 井上治久, 岩坪威, 宇川義一, 岡澤均, 小野賢二郎, 小野寺理, 北川一夫, 齊藤祐子, 下畑享良, 髙橋良輔, 戸田達史, 中原仁, 松本理器, 水澤英洋, 三井純, 村山繁雄, 勝野雅央, 日本神経学会将来構想委員会, 青木吉嗣, 石浦浩之, 和泉唯信, 小池春樹, 島田斉, 髙橋祐二, 徳田隆彦, 中嶋秀人, 波田野琢, 三澤園子, 渡辺宏久 :
脳神経疾患克服に向けた研究推進の提言2020，各論I(方法論別),
臨床神経学, Vol.62, No.6, 429-442, 2022年.

(キーワード): 日本神経学会 / 神経学会の提言 / 脳神経疾患克服研究 / 産官学連携 / 各論I(方法論別) / Japanese Society of Neurology / Recommendations from Japanese Society of Neurology / Research for Overcoming Neurological Diseases / Industry-Government-Academia collaboration / section I (methods)
(出版サイトへのリンク): ● Publication site (DOI): 10.5692/clinicalneurol.cn-001695
(文献検索サイトへのリンク): ● CiNii @ 国立情報学研究所 (CRID): 1390011030550457856; ● Summary page in Scopus @ Elsevier: 2-s2.0-85133102146

(DOI: 10.5692/clinicalneurol.cn-001695, CiNii: 1390011030550457856, Elsevier: Scopus) 望月秀樹, 青木正志, 池中建介, 井上治久, 岩坪威, 宇川義一, 岡澤均, 小野賢二郎, 小野寺理, 北川一夫, 齊藤祐子, 下畑享良, 髙橋良輔, 戸田達史, 中原仁, 松本理器, 水澤英洋, 三井純, 村山繁雄, 勝野雅央, 日本神経学会将来構想委員会, 青木吉嗣, 石浦浩之, 和泉唯信, 小池春樹, 島田斉, 髙橋祐二, 徳田隆彦, 中嶋秀人, 波田野琢, 三澤園子, 渡辺宏久 :
脳神経疾患克服に向けた研究推進の提言2020，各論II(疾患群別),
臨床神経学, Vol.62, No.6, 443-457, 2022年.

(キーワード): 日本神経学会 / 神経学会の提言 / 脳神経疾患克服研究 / 産官学連携 / 各論II(疾患群別) / Japanese Society of Neurology / Recommendations from Japanese Society of Neurology / Research for Overcoming Neurological Diseases / Industry-Government-Academia collaboration / section II (diseases)
(出版サイトへのリンク): ● Publication site (DOI): 10.5692/clinicalneurol.cn-001696
(文献検索サイトへのリンク): ● CiNii @ 国立情報学研究所 (CRID): 1390011030550457856; ● Summary page in Scopus @ Elsevier: 2-s2.0-85133101604

(DOI: 10.5692/clinicalneurol.cn-001696, CiNii: 1390011030550457856, Elsevier: Scopus) Koji Fukushima, Naoko Takamatsu, Yuki Yamamoto, Hiroki Yamazaki, Takeshi Yoshida, Yusuke Osaki, Shotaro Haji, Koji Fujita, Kazuma Sugie and Yuishin Izumi :
Early diagnosis of amyotrophic lateral sclerosis based on fasciculations in muscle ultrasonography: A machine learning approach.,
Clinical Neurophysiology, Vol.140, 136-144, 2022.

(要約): We investigated 100 patients with ALS, including 50 with early-stage ALS within 9 months from onset, and 100 without ALS. Fifteen muscles were bilaterally observed for 10 s each and the presence of fasciculations was recorded. Hierarchical clustering and nominal logistic regression, neural network, or ensemble learning were applied to the training cohort comprising the early-stage ALS to develop MUS-based diagnostic models, and they were tested in the validation cohort comprising the later-stage ALS.
(出版サイトへのリンク): ● Publication site (DOI): 10.1016/j.clinph.2022.06.005
(文献検索サイトへのリンク): ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 35772191; ● Search Scopus @ Elsevier (PMID): 35772191; ● Search Scopus @ Elsevier (DOI): 10.1016/j.clinph.2022.06.005

(DOI: 10.1016/j.clinph.2022.06.005, PubMed: 35772191) Ryosuke Oki, Yuishin Izumi, Koji Fujita, Ryosuke Miyamoto, Hiroyuki Nodera, Yasutaka Sato, Satoshi Sakaguchi, Hiroshi Nokihara, Kazuaki Kanai, Taiji Tsunemi, Nobutaka Hattori, Yuki Hatanaka, Masahiro Sonoo, Naoki Atsuta, Gen Sobue, Toshio Shimizu, Kazumoto Shibuya, Ken Ikeda, Osamu Kano, Kazuto Nishinaka, Yasuhiro Kojima, Masaya Oda, Kiyonobu Komai, Hitoshi Kikuchi, Nobuo Kohara, Makoto Urushitani, Yoshiaki Nakayama, Hidefumi Ito, Makiko Nagai, Kazutoshi Nishiyama, Daisuke Kuzume, Shun Shimohama, Takayoshi Shimohata, Koji Abe, Tomohiko Ishihara, Osamu Onodera, Sagiri Isose, Nobuyuki Araki, Mitsuya Morita, Kazuyuki Noda, Tatsushi Toda, Hirofumi Maruyama, Hirokazu Furuya, Satoshi Teramukai, Tatsuo Kagimura, Kensuke Noma, Hiroaki Yanagawa, Satoshi Kuwabara and Ryuji Kaji :
Efficacy and Safety of Ultrahigh-Dose Methylcobalamin in Early-Stage Amyotrophic Lateral Sclerosis: A Randomized Clinical Trial.,
JAMA Neurology, Vol.79, No.6, 575-583, 2022.

(要約): A total of 130 patients (mean [SD] age, 61.0 [11.7] years; 74 men [56.9%]) were randomly assigned to methylcobalamin or placebo (65 each). A total of 129 patients were eligible for the full analysis set, and 126 completed the double-blind stage. Of these, 124 patients proceeded to the open-label extended period. The least square means difference in ALSFRS-R total score at week 16 of the randomized period was 1.97 points greater with methylcobalamin than placebo (-2.66 vs -4.63; 95% CI, 0.44-3.50; P = .01). The incidence of adverse events was similar between the 2 groups.
(キーワード): Amyotrophic Lateral Sclerosis / Double-Blind Method / Humans / Male / Middle Aged / Treatment Outcome / Vital Capacity / Vitamin B 12
(徳島大学機関リポジトリ): ● Metadata: 118371
(出版サイトへのリンク): ● Publication site (DOI): 10.1001/jamaneurol.2022.0901
(文献検索サイトへのリンク): ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 35532908; ● Search Scopus @ Elsevier (PMID): 35532908; ● Search Scopus @ Elsevier (DOI): 10.1001/jamaneurol.2022.0901

(徳島大学機関リポジトリ: 118371, DOI: 10.1001/jamaneurol.2022.0901, PubMed: 35532908) Naohiro Egawa, Yuishin Izumi, Hidefumi Suzuki, Itaru Tsuge, Koji Fujita, Hitoshi Shimano, Keiichi Izumikawa, Nobuhiro Takahashi, Kayoko Tsukita, Takako Enami, Masahiro Nakamura, Akira Watanabe, Motoko Naitoh, Shigehiko Suzuki, Tsuneyoshi Seki, Kazuhiro Kobayashi, Tatsushi Toda, Ryuji Kaji, Ryosuke Takahashi and Haruhisa Inoue :
TDP-43 regulates cholesterol biosynthesis by inhibiting sterol regulatory element-binding protein 2.,
Scientific Reports, Vol.12, No.1, 2022.

(要約): Dyslipidemia is considered an essential component of the pathological process of amyotrophic lateral sclerosis (ALS), a fatal motor neuron disease. Although TAR DNA Binding Protein 43 kDa (TDP-43) links both familial and sporadic forms of ALS and cytoplasmic aggregates are a hallmark of most cases of ALS, the molecular mechanism and the in vivo relation of ALS dyslipidemia with TDP-43 have been unclear. To analyze the dyslipidemia-related gene expression by TDP-43, we performed expression microarray and RNA deep sequencing (RNA-Seq) using cell lines expressing high levels of TDP-43 and identified 434 significantly altered genes including sterol regulatory element-binding protein 2 (SREBP2), a master regulator of cholesterol homeostasis and its downstream genes. Elevated TDP-43 impaired SREBP2 transcriptional activity, leading to inhibition of cholesterol biosynthesis. The amount of cholesterol was significantly decreased in the spinal cords of TDP-43-overexpressed ALS model mice and in the cerebrospinal fluids of ALS patients. These results suggested that TDP-43 could play an essential role in cholesterol biosynthesis in relation to ALS dyslipidemia.
(キーワード): Amyotrophic Lateral Sclerosis / Animals / DNA-Binding Proteins / Humans / Mice / Motor Neuron Disease / Sterol Regulatory Element Binding Protein 2 / Sterols
(徳島大学機関リポジトリ): ● Metadata: 117387
(出版サイトへのリンク): ● Publication site (DOI): 10.1038/s41598-022-12133-4
(文献検索サイトへのリンク): ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 35568729; ● Search Scopus @ Elsevier (PMID): 35568729; ● Search Scopus @ Elsevier (DOI): 10.1038/s41598-022-12133-4

(徳島大学機関リポジトリ: 117387, DOI: 10.1038/s41598-022-12133-4, PubMed: 35568729) G Tohnai, R Nakamura, N Atsuta, M Nakatochi, N Hayashi, D Ito, H Watanabe, H Watanabe, M Katsuno, Yuishin Izumi, A Taniguchi, K Kanai, M Morita, O Kano, S Kuwabara, M Oda, K Abe, M Aoki, I Aiba, K Okamoto, K Mizoguchi, T Ishihara, A Kawata, T Yokota, K Hasegawa, I Nagano, I Yabe, F Tanaka, S Kuru, N Hattori, K Nakashima, Ryuji Kaji, G Sobue and Japanese Consortium for Amyotrophic Lateral Sclerosis Research (JaCALS) :
Mutation screening of the DNAJC7 gene in Japanese patients with sporadic amyotrophic lateral sclerosis,
Neurobiology of Aging, Vol.113, 131-136, 2022.

(要約): DNAJC7 has recently been identified as an amyotrophic lateral sclerosis (ALS) gene via large-scale exome analysis, and its involvement in ALS is still unclear in various populations. This study aimed to determine the frequencies and characteristics of the DNAJC7 variants in a Japanese ALS cohort. A total of 807 unrelated Japanese patients with sporadic ALS were screened via exome analysis. In total, we detected six rare missense variants and one splice-site variant of the DNAJC7 gene, which are not reported in the Japanese public database. Furthermore, the missense variants are located around the TPR domain, which is important for the function of DNAJC7. The total frequency of the DNAJC7 variants in Japanese ALS patients was estimated at 0.87%. Collectively, these results suggest that variants of DNAJC7 are rare cause of Japanese patients with sporadic ALS.
(キーワード): Amyotrophic Lateral Sclerosis / Exome / Genetic Predisposition to Disease / Heat-Shock Proteins / Humans / Japan / Molecular Chaperones / Mutation
(出版サイトへのリンク): ● Publication site (DOI): 10.1016/j.neurobiolaging.2021.12.002
(文献検索サイトへのリンク): ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 35039179; ● Search Scopus @ Elsevier (PMID): 35039179; ● Search Scopus @ Elsevier (DOI): 10.1016/j.neurobiolaging.2021.12.002

(DOI: 10.1016/j.neurobiolaging.2021.12.002, PubMed: 35039179) Shinichi Matsumoto, Yuki Yamamoto, Koji Fujita, Ryosuke Miyamoto, Hidetaka Koizumi, Akihiro Tateishi, Naoaki Yamada and Yuishin Izumi :
Truncal dystonia with isolated middle cerebral artery ischemia: A case report of revascularization therapy for dystonia.,
Surgical Neurology International, Vol.13, 2022.

(要約): Revascularization therapy improved CBF and truncal dystonia and could be a viable treatment option for dystonia with ischemia in the MCA region. Extensive cerebral ischemia can result in cortical inhibition loss or over-adapted cerebral plasticity and cause dystonia. Revascularization therapy may be useful for patients with dystonia and decreased CBF in the MCA region.
(出版サイトへのリンク): ● Publication site (DOI): 10.25259/SNI_173_2022
(文献検索サイトへのリンク): ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 35509528; ● Search Scopus @ Elsevier (PMID): 35509528; ● Search Scopus @ Elsevier (DOI): 10.25259/SNI_173_2022

(DOI: 10.25259/SNI_173_2022, PubMed: 35509528) T Hirayama, Yuishin Izumi, Y Nakayama, M Shibukawa, S Ebihara and O Kano :
Communicating the diagnosis: a survey of patients with amyotrophic lateral sclerosis and their families in Japan,
Acta Neurologica Belgica, Vol.122, No.2, 471-478, 2022.

(要約): To assess the needs of patients with amyotrophic lateral sclerosis (ALS) and their families when being communicated the diagnosis. We held a nationwide webinar in September 2020, titled "ALS Café", and distributed a self-report questionnaire to participants. This cross-sectional study included 56 respondents (patients, n = 32; family members, n = 24). Of the 56 respondents, 47 (84%) reported being anxious when they were communicated their diagnosis. The average time allocated for communicating the diagnosis was 36.3 ± 25.6 min, and 30% of respondents believed that insufficient time was allocated. Nearly half of the respondents were communicated their diagnosis by one physician, and 57% of the respondents received their diagnosis in one session. Approximately 80% of respondents received information about ventilators when they were being communicated their diagnosis, but most patients did not want to receive this information at that time. The anxious group tended to answer that the time to communicate the diagnosis was short. Meanwhile, all respondents in the mildly anxious group were provided with one or more information about the supportive contents along with the diagnosis. Moreover, in Japan, many patients with ALS and their families desire the legalization of euthanasia, which might affect decision-making. This study shows that a longer amount of time spent communicating the diagnosis and provision of descriptions needed by patients and their families are important. This can help clinicians understand what the patient requires while being communicated their diagnosis.
(キーワード): Amyotrophic Lateral Sclerosis / Cross-Sectional Studies / Humans / Japan / Surveys and Questionnaires
(出版サイトへのリンク): ● Publication site (DOI): 10.1007/s13760-021-01801-3
(文献検索サイトへのリンク): ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 34532828; ● Search Scopus @ Elsevier (PMID): 34532828; ● Search Scopus @ Elsevier (DOI): 10.1007/s13760-021-01801-3

(DOI: 10.1007/s13760-021-01801-3, PubMed: 34532828) Joji Fujikawa, Ryoma Morigaki, Nobuaki Yamamoto, Teruo Oda, Hiroshi Nakanishi, Yuishin Izumi and Yasushi Takagi :
Therapeutic Devices for Motor Symptoms in Parkinson's Disease: Current Progress and a Systematic Review of Recent Randomized Controlled Trials.,
Frontiers in Aging Neuroscience, Vol.14, 2022.

(要約): Invasive and non-invasive medical devices have unique characteristics, and several RCTs have been conducted for each device. Invasive devices are more effective, while non-invasive devices are less effective and have lower hurdles and risks. It is important to understand the characteristics of each device and capitalize on these.
(徳島大学機関リポジトリ): ● Metadata: 117340
(出版サイトへのリンク): ● Publication site (DOI): 10.3389/fnagi.2022.807909
(文献検索サイトへのリンク): ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 35462692; ● Search Scopus @ Elsevier (PMID): 35462692; ● Search Scopus @ Elsevier (DOI): 10.3389/fnagi.2022.807909

(徳島大学機関リポジトリ: 117340, DOI: 10.3389/fnagi.2022.807909, PubMed: 35462692) Yoshiteru Tada, Toshitaka Fujihara, Kenji Shimada, Nobuaki Yamamoto, Hiroki Yamazaki, Yuishin Izumi, Masafumi Harada, Yasuhisa Kanematsu and Yasushi Takagi :
Seizure types associated with negative arterial spin labeling and positive diffusion-weighted imaging on peri-ictal magnetic resonance imaging,
Journal of the Neurological Sciences, Vol.436, 1-8, 2022.

(要約): Arterial spin labeling (ASL) and diffusion-weighted imaging (DWI) are useful for assessing hyperperfusion and cytotoxic edema, respectively, caused by acute seizures. This study investigated the clinical characteristics associated with normal ASL findings and DWI abnormalities in patients with acute seizures. Overall, 41 patients with ASL and DWI images that were obtained within 48 h of focal onset seizure diagnosis, due to epilepsy or acute symptomatic seizures, were divided into groups based on initial ASL findings (ASL-negative vs. ASL-positive), and DWI abnormalities (DWI-negative vs. DWI-positive). The diagnosis was made based on seizure semiology, electroencephalography, and conventional imaging modalities. ASL and DWI abnormalities were based on visual assessment. Of the 41 patients, eight (19.5%) displayed normal ASL findings. The proportion of patients with focal aware seizures (FAS) was significantly higher among ASL-negative patients (62.5%) than that in ASL-positive patients (15.2%); the proportion of patients with focal impaired awareness seizures (FIAS) was significantly lower among ASL-negative patients (12.5%) than that among ASL-positive patients (57.6%). Hyperintensity findings on DWI were observed in 12 patients (29.3%, DWI-positive). The proportion of patients with FIAS was significantly higher among DWI-positive patients (75.0%) than that among DWI-negative patients (37.9%). Multivariate analysis revealed that FAS and FIAS were associated with normal ASL findings (odds ratio [OR]: 21.37, P = 0.010) and DWI abnormalities (OR = 6.11, P = 0.028). A diagnosis of seizures should not be excluded based on normal ASL findings, especially in patients with FAS. FIAS may be a risk factor for neuronal damage caused by seizure activity.
(出版サイトへのリンク): ● Publication site (DOI): 10.1016/j.jns.2022.120223
(文献検索サイトへのリンク): ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 35279594; ● Summary page in Scopus @ Elsevier: 2-s2.0-85126008460

(DOI: 10.1016/j.jns.2022.120223, PubMed: 35279594, Elsevier: Scopus) Shotaro Haji, Wataru Sako, N Marukami, Yusuke Osaki and Yuishin Izumi :
Serum NfL and CHI3L1 for ALS and parkinsonian disorders in the process of diagnosis,
Journal of Neural Transmission, Vol.129, No.3, 301-309, 2022.

(要約): Serum neurofilament light chain (NfL) and chitinase 3-like 1 (CHI3L1, also called YKL-40) concentrations are attractive candidate biomarkers for neurodegenerative disorders, which include amyotrophic lateral sclerosis (ALS) and parkinsonian disorders. We aimed to assess the diagnostic power of serum NfL and CHI3L1 concentrations with regard to the early diagnosis of ALS and Parkinson's disease (PD). We studied 157 individuals, which included 41 healthy controls, 8 patients with ALS mimics, 18 patients initially diagnosed with ALS (ID-ALS), 32 patients late-diagnosed with ALS (LD-ALS), 29 patients with PD, 12 patients with PD mimics, and 17 patients initially diagnosed with atypical parkinsonian disorders (ID-APDs) at the initial stage of diagnosis. Electrochemiluminescence was used to measure the concentrations of serum NfL and CHI3L1, the diagnostic performance of which was assessed using the area under the receiver operating curves (AUCs). The AUCs of serum NfL were 0.90 for discriminating ALS mimics from LD-ALS at the initial stage of diagnosis and 0.89 for discriminating ALS mimics from ALS (LD/ID-ALS). The AUCs of serum NfL were 0.76 for discriminating PD from PD mimics at the initial stage of diagnosis, and 0.80 for discriminating PD from APD. No significant difference existed in serum CHI3L1 concentrations between individuals with suspected ALS or parkinsonism (p = 0.14, and p = 0.44, respectively). Serum NfL had excellent and almost good diagnostic performances for patients with ALS and PD, respectively, at the initial stage of diagnosis, whereas no significant difference existed in serum CHI3L1 between any groups.
(キーワード): Amyotrophic Lateral Sclerosis / Biomarkers / Chitinase-3-Like Protein 1 / Humans / Parkinson Disease / Parkinsonian Disorders
(出版サイトへのリンク): ● Publication site (DOI): 10.1007/s00702-022-02470-z
(文献検索サイトへのリンク): ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 35178615; ● Search Scopus @ Elsevier (PMID): 35178615; ● Search Scopus @ Elsevier (DOI): 10.1007/s00702-022-02470-z

(DOI: 10.1007/s00702-022-02470-z, PubMed: 35178615) Yuki Yamamoto, Nobuaki Yamamoto, Yasuhisa Kanematsu, Izumi Yamaguchi, Manabu Ishihara, Takeshi Miyamoto, Shu Sogabe, Kenji Shimada, Yasushi Takagi and Yuishin Izumi :
The claw sign predicts first-pass effect in mechanical thrombectomy for cerebral large vessel occlusion in the anterior circulation,
Surgical Neurology International, Vol.13, No.72, 1-7, 2022.

(要約): Mechanical thrombectomy (MT) is an effective treatment for acute cerebral large vessel occlusion (LVO). Complete recanalization of vessels in a single procedure is defined as the first-pass effect (FPE) and is associated with good prognosis. In this study, angiographic clot protruding sign termed the "claw sign," was examined as candidate preoperative imaging factor for predicting the FPE. We retrospectively analyzed data from 91 consecutive patients treated for acute LVO in the anterior circulation by MT between January 2014 and December 2019. The claw sign was defined as a thrombus that protruded proximally by more than half of the diameter of the parent artery. Radiological findings such as claw sign, clinical and etiological features, and outcomes were compared between groups with and without successful FPE. Multivariate analysis was conducted to evaluate perioperative factors associated with FPE. FPE was achieved in 26 of 91 (28.6%) patients and the claw sign was observed in 34 of 91 (37.4%) patients. The claw sign was significantly more frequent in the successful FPE group than in the failed FPE group (53.8% vs. 30.8%; = 0.040). After the multivariate analysis, the claw sign was the only pretreatment parameter that could predict FPE (odds ratio, 2.67; 95% confidence interval, 1.01-7.06; = 0.047). The claw sign is an angiographic imaging factor that might predict FPE after MT for anterior circulation acute ischemic stroke.
(徳島大学機関リポジトリ): ● Metadata: 117192
(出版サイトへのリンク): ● Publication site (DOI): 10.25259/SNI_1160_2021
(文献検索サイトへのリンク): ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 35242438; ● Search Scopus @ Elsevier (PMID): 35242438; ● Search Scopus @ Elsevier (DOI): 10.25259/SNI_1160_2021

(徳島大学機関リポジトリ: 117192, DOI: 10.25259/SNI_1160_2021, PubMed: 35242438) 大崎裕亮, 島かさ音, 山本伸昭, 山﨑博輝, 佐藤健太, 和泉唯信 :
血管炎性ニューロパチー様の臨床像で発症した抗Hu抗体陽性脳脊髄炎の1例,
末梢神経, Vol.33, No.1, 136-143, 2022年.

(キーワード): 傍腫瘍性神経症候群 / 抗Hu抗体 / 非対称性ニューロパチー / paraneoplastic neurological syndrome / anti-Hu antibody / asymmetric neuropathy
(文献検索サイトへのリンク): ● CiNii @ 国立情報学研究所 (CRID): 1520013010160046720

(CiNii: 1520013010160046720) T Takeuchi, T Okuno, A Miyashiro, T Kohda, Ryosuke Miyamoto, Yuishin Izumi, S Kozaki and Ryuji Kaji :
Clinical safety and tolerability of A2NTX, a novel low-molecular-weight neurotoxin derived from botulinum neurotoxin subtype A2, in comparison with subtype A1 toxins,
Toxins, Vol.13, No.11, 824, 2021.

(要約): All the botulinum type A neurotoxins available for clinical use are of the A1 subtype. We developed a subtype A2 low-molecular-weight (150 kD (kilo Dalton)) neurotoxin (A2NTX) with less spread and faster entry into the motor nerve terminal than A1 in vitro and in vivo. Preliminary clinical studies showed that its efficacy is superior to A1 toxins. We conducted an open study exploring its safety and tolerability profile in comparison with A1LL (LL type A1 toxin, or onabotulinumtoxinA) and a low-molecular-weight (150 kD) A1 neurotoxin (A1NTX). Those who had been using A1LL ( = 90; 50-360 mouse LD50 units) or A1NTX ( = 30; 50-580 units) were switched to A2NTX ( = 120; 25-600 units) from 2010 to 2018 (number of sessions ~27, cumulative doses ~11,640 units per patient). The adverse events for A2NTX included weakness ( = 1, ascribed to alcoholic polyneuropathy), dysphagia (1), local weakness (4), and spread to other muscles (1), whereas those for A1LL or A1NTX comprised weakness ( = 2, A1NTX), dysphagia (8), ptosis (6), local weakness (7), and spread to other muscles (15). After injections, 89 out of 120 patients preferred A2NTX to A1 for the successive sessions. The present study demonstrated that A2NTX had clinical safety up to the dose of 500 units and was well tolerated compared to A1 toxins.
(キーワード): Adolescent / Adult / Aged / Aged, 80 and over / Botulinum Toxins, Type A / Case-Control Studies / Dose-Response Relationship, Drug / Female / Humans / Male / Middle Aged / Molecular Weight / Neuromuscular Agents / Retrospective Studies / Young Adult
(徳島大学機関リポジトリ): ● Metadata: 117149
(出版サイトへのリンク): ● Publication site (DOI): 10.3390/toxins13110824
(文献検索サイトへのリンク): ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 34822610; ● Summary page in Scopus @ Elsevier: 2-s2.0-85119953968

(徳島大学機関リポジトリ: 117149, DOI: 10.3390/toxins13110824, PubMed: 34822610, Elsevier: Scopus) Wataru Sako, Yuishin Izumi, Takashi Abe, Shotaro Haji, Nagahisa Murakami, Yusuke Osaki, Yuki Matsumoto, Masafumi Harada and Ryuji Kaji :
MR spectroscopy and imaging-derived measurements in the supplementary motor area for biomarkers of amyotrophic lateral sclerosis,
Neurological Sciences, Vol.42, No.10, 4257-4263, 2021.

(出版サイトへのリンク): ● Publication site (DOI): 10.1007/s10072-021-05107-3
(文献検索サイトへのリンク): ● Summary page in Scopus @ Elsevier: 2-s2.0-85100872799

(DOI: 10.1007/s10072-021-05107-3, Elsevier: Scopus) T Fukumoto, Y Sakashita, F Katada, R Takeuchi, Ryosuke Miyamoto, Yuishin Izumi, S Sato, H Shibayama, K Takahashi, T Suzuki, K Nakamichi, S Murayama and T Fukutake :
"Burnt-out" progressive multifocal leukoencephalopathy in idiopathic CD4+ lymphocytopenia,
Neuropathology, Vol.41, No.6, 484-488, 2021.

(要約): Progressive multifocal leukoencephalopathy (PML) is a fatal disease caused by John Cunningham virus (JCV) infection; however, a growing number of PML patients now survive longer and achieve remission, largely due to the advent of combination antiretroviral therapy. Several reports have suggested that the pathology in such patients presents only chronic demyelination without characteristic cellular changes, being referred to as "burnt-out" PML. On the other hand, our knowledge of "burnt-out" PML is still substantially limited, especially in patients with non-human immunodeficiency virus infection. Here, we report a case of PML associated with idiopathic CD4 lymphocytopenia (ICL) who presented with spontaneous remission and survived for 11 years after onset. Notably, postmortem examination revealed surprisingly broad "burnt-out" lesions lacking the classic histopathological findings. However, pathogenic JCV-specific DNA sequences was still present in the autopsied brain tissue. This case suggests that complete remission can be achieved with a persistent presence of JCV-specific pathogenic sequences, even after a catastrophic infection. Considering that there have been a few reported cases of PML with ICL with long survival, the long-term survival of our case may share a favorable immunological response that is unique to a subgroup of ICL.
(キーワード): Brain / CD4-Positive T-Lymphocytes / Humans / JC Virus / Leukoencephalopathy, Progressive Multifocal / Lymphopenia / T-Lymphocytopenia, Idiopathic CD4-Positive
(出版サイトへのリンク): ● Publication site (DOI): 10.1111/neup.12773
(文献検索サイトへのリンク): ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 34595780; ● Summary page in Scopus @ Elsevier: 2-s2.0-85115958501

(DOI: 10.1111/neup.12773, PubMed: 34595780, Elsevier: Scopus) Yohei Yamamoto, Naoko Matsui, Akiyuki Uzawa, Yukiko Ozawa, Tetsuya Kanai, Fumiko Oda, Hiroyuki Kondo, Izumi Ohigashi, Hiromitsu Takizawa, Kazuya Kondo, Mikio Sugano, Takashi Kitaichi, Hiroki Hata, Ryuji Kaji, Satoshi Kuwabara, Takashi Yamamura and Yuishin Izumi :
Intrathymic Plasmablasts Are Affected in Patients With Myasthenia Gravis With Active Disease.,
Neurology® Neuroimmunology & Neuroinflammation, Vol.8, No.6, e1087, 2021.

(要約): Our findings confirmed a correlation between increased frequency of intrathymic plasmablasts and disease activity before thymectomy. We postulate that activated intrathymic plasmablasts endow pathogenic capacity in MG.
(キーワード): Adolescent / 成人 (adult) / Aged / B-Lymphocytes / 子ども (children) / Child, Preschool / 女性 (female) / Humans / Leukocytes, Mononuclear / Lymphopoiesis / 男性 (male) / Middle Aged / Myasthenia Gravis / Stem Cells / Tリンパ球 (T lymphocytes) / Thymectomy / Thymoma / Thymus Neoplasms / Young Adult
(徳島大学機関リポジトリ): ● Metadata: 116884
(出版サイトへのリンク): ● Publication site (DOI): 10.1212/NXI.0000000000001087
(文献検索サイトへのリンク): ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 34561276; ● Summary page in Scopus @ Elsevier: 2-s2.0-85117018419

(徳島大学機関リポジトリ: 116884, DOI: 10.1212/NXI.0000000000001087, PubMed: 34561276, Elsevier: Scopus) K Kume, M Kamada, Yoshimitsu Shimatani, T Takata, Yuishin Izumi and H Kawakami :
Novel monoallelic variant in ERLIN2 causes spastic paraplegia converted to amyotrophic lateral sclerosis,
Journal of the Neurological Sciences, Vol.430, 119984, 2021.

(キーワード): Amyotrophic Lateral Sclerosis / Humans / Membrane Proteins / Mutation / Paraplegia / Spastic Paraplegia, Hereditary
(出版サイトへのリンク): ● Publication site (DOI): 10.1016/j.jns.2021.119984
(文献検索サイトへのリンク): ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 34536826; ● Summary page in Scopus @ Elsevier: 2-s2.0-85114953974

(DOI: 10.1016/j.jns.2021.119984, PubMed: 34536826, Elsevier: Scopus) Masaaki Nishi, Ryosuke Miyamoto, Kasane Shima, Hirokazu Miki, Hideo Terasawa, Chie Takasu, Kouzou Yoshikawa, Takuro Oyama, Katsuya Tanaka, Yuishin Izumi and Mitsuo Shimada :
Robot-assisted total gastrectomy for gastric cancer in a patient with amyotrophic lateral sclerosis receiving long-term tracheostomy invasive ventilation,
International Cancer Conference Journal, Vol.10, No.4, 318-323, 2021.

(要約): Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease. Although affected patients may develop cancers, major surgical intervention has been hampered by its questionable overall benefit due to limited prognosis and risk of postoperative respiratory collapse. A recent study, however, showed that tracheostomy invasive ventilation (TIV) prolonged median survival to 11.3 years; thus, patients with ALS receiving TIV might benefit from major surgery. A 66-year-old man with ALS, who had received TIV and enteral tube feeding for 8 years, presented with bloody stool. The patient also had type 2 diabetes mellitus, stage 4 chronic kidney disease, abdominal aortic aneurysm, and anti-phospholipid syndrome, as well as multiple episodes of pneumonia and catheter-related urinary tract infection treated by antibiotics. Medical examination and esophagogastroduodenoscopy revealed a type 3 tumor in the middle part of the stomach. The patient's preoperative diagnosis was gastric cancer (GC), MU, type3, Less-Post, T3(SS), N1, H0, P0, M0, cStage III. The estimated mortality rate was 30.5%, according to the Japanese National Clinical Database. The patient and his family were fully informed of the risk of surgery; the patient clearly requested curative surgery by eye movement. Thus, robot-assisted total gastrectomy (RATG) was performed. The tissues were extremely fragile and hemorrhagic. The surgical time was 7 h 0 min; intraoperative blood loss was 324 ml. Pathological examination revealed GC, MU, type3, T4a(SE), N2, H0, CY0, P0, M0 fStage IIIB. The postoperative course was uneventful. He has remained in stable condition for 3 months. Our findings suggest that patients with ALS who achieve longer survival with TIV can undergo major cancer surgery, including robot-assisted surgery, which may facilitate a better mid-long-term prognosis. The online version contains supplementary material available at 10.1007/s13691-021-00499-7.
(出版サイトへのリンク): ● Publication site (DOI): 10.1007/s13691-021-00499-7
(文献検索サイトへのリンク): ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 34567945; ● Search Scopus @ Elsevier (PMID): 34567945; ● Search Scopus @ Elsevier (DOI): 10.1007/s13691-021-00499-7

(DOI: 10.1007/s13691-021-00499-7, PubMed: 34567945) Nobuaki Yamamoto, Yuki Yamamoto, Izumi Yamaguchi, Shu Sogabe, Takeshi Miyamoto, Kenji Shimada, Yasuhisa Kanematsu, Ryoma Morigaki, Yuishin Izumi and Yasushi Takagi :
Percutaneous Transluminal Angioplasty and Stenting Using an Aspiration Catheter,
Journal of Neuroendovascular Therapy, Vol.16, No.5, 277-282, 2021.

(要約): Objective: During percutaneous transluminal angioplasty (PTA) for the vertebral artery, occlusion of the subclavian artery using a balloon guiding catheter may be useful to prevent embolism of clots and/or debris distal to an atherosclerotic lesion. However, when placing a balloon guiding catheter at the intended vessels is difficult, it may be useful to use an aspiration catheter (AC) for mechanical thrombectomy as an intermediate catheter to suction way clots and/or debris. We report two cases in which PTA was performed for an atherosclerotic lesion at the intracranial vertebral artery using an AC, which ended without complications.Case Presentations: Case 1: A 74-year-old man presented with dysarthria and was admitted to our hospital. MRI revealed severe left vertebral artery stenosis and diffuse cerebral infarct areas at the territory of the posterior circulation. The patient had an abdominal aortic aneurysm and abnormally shaped left tortuous subclavian artery. Therefore, we performed PTA and stenting via the left brachial artery. We guided a 6-Fr long sheath to the left subclavian artery, and a 6-Fr AC for thrombectomy was guided through the long sheath to the V4 portion of the left vertebral artery. Thereafter, PTA was carried out under manual aspiration from the AC. As restenosis at the atherosclerotic lesion occurred after PTA, we performed stenting using a coronary stent system for this lesion under manual aspiration from the AC. No new infarct areas were observed on post-procedural MRI. Case 2: A 74-year-old woman presented with dysarthria and was admitted to our hospital. MRI demonstrated basilar artery occlusion and diffuse cerebral infarct areas at the territory of the posterior circulation. As her symptom worsened after admission, we performed urgent mechanical thrombectomy. We first performed thrombectomy using a stent retriever and then performed PTA and stenting (PTAS) for residual basilar artery stenosis via the AC under manual aspiration.Conclusion: When it is difficult to place a guiding catheter at the intended vessels during PTA, an AC may be useful to prevent distal embolization.
(キーワード): percutaneous transluminal angioplasty / aspiration catheter
(出版サイトへのリンク): ● Publication site (DOI): 10.5797/jnet.cr.2021-0030
(文献検索サイトへのリンク): ● CiNii @ 国立情報学研究所 (CRID): 1390573593425698304; ● Search Scopus @ Elsevier (DOI): 10.5797/jnet.cr.2021-0030

(DOI: 10.5797/jnet.cr.2021-0030, CiNii: 1390573593425698304) Yusuke Osaki, Hiroyuki Nodera, Tatsuya Fukumoto, Ryuji Kaji and Yuishin Izumi :
Peripheral nerve dysfunction in a patient with thyrotoxic periodic paralysis: Evidence from an axonal prolonged exercise test,
Clinical Neurophysiology, Vol.132, No.7, 1496-1498, 2021.

(キーワード): Adolescent / Adult / Axons / Exercise Test / Humans / Hypokalemic Periodic Paralysis / Male / Peripheral Nerves
(出版サイトへのリンク): ● Publication site (DOI): 10.1016/j.clinph.2021.04.006
(文献検索サイトへのリンク): ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 34030052; ● Summary page in Scopus @ Elsevier: 2-s2.0-85106374066

(DOI: 10.1016/j.clinph.2021.04.006, PubMed: 34030052, Elsevier: Scopus) T Fukumoto, Ryosuke Miyamoto, Koji Fujita, Masafumi Harada and Yuishin Izumi :
Gait apraxia as a presenting sign of Gerstmann-Sträussler-Scheinker disease,
Neurology and Clinical Neuroscience, Vol.9, No.4, 339-341, 2021.

(出版サイトへのリンク): ● Publication site (DOI): 10.1111/ncn3.12511
(文献検索サイトへのリンク): ● Search Scopus @ Elsevier (DOI): 10.1111/ncn3.12511

(DOI: 10.1111/ncn3.12511) T Yoshida, Hiroyuki Nodera, Y Kumon, S Osanai, Yuishin Izumi and H Mizukami :
Detection of nerve enlargement with ultrasound and correlation with skin biopsy findings in painful sensory neuropathy associated with Sjögren's syndrome,
Modern Rheumatology, Vol.31, No.4, 849-855, 2021.

(要約): We evaluated usefulness of peripheral nerve ultrasound (US) in detecting abnormality in painful sensory neuropathy (PSN) associated with primary Sjögren's syndrome (pSS), and associations among various clinical factors, US findings, and intraepidermal nerve fiber density (IENFD). We conducted a retrospective, single-center, observational study of patients with pSS-PSN. US image was obtained to measure cross sectional area (CSA) of peripheral nerves and compared with matched pSS control. We included 11 patients with pSS-PSN (10 women; age 70.5 ± 5.66) and 17 pSS controls (15 women; age 62.5 ± 16.7). Sural nerve CSA were significantly increased in pSS-PSN group (3.48 ± 1.0 mm vs 2.05 ± 0.65 mm, = .001). US of sural nerve showed the area under the ROC curve of 0.872 (95% CI, 0.732 - 1). Sural nerve CSA and IENFD of lower leg showed positive correlation. Compared with pSS-PSN patients with abnormal IENFD, those with normal IENFD showed significantly larger sural nerve CSA, and trends toward less systemic disease activity and small fiber impairment with sparing of large fibers. US was useful in discriminating pSS patients with PSN from those without. Additionally, US may disclose distinct subsets of pSS-PSN with different clinical findings and IENFD.
(キーワード): Aged / Biopsy / Female / Humans / Leg / Male / Middle Aged / Nerve Fibers / Pain / Peripheral Nerves / Peripheral Nervous System Diseases / Retrospective Studies / Sjogren's Syndrome / Skin / Ultrasonography
(出版サイトへのリンク): ● Publication site (DOI): 10.1080/14397595.2020.1830484
(文献検索サイトへのリンク): ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 32996808; ● Search Scopus @ Elsevier (PMID): 32996808; ● Search Scopus @ Elsevier (DOI): 10.1080/14397595.2020.1830484

(DOI: 10.1080/14397595.2020.1830484, PubMed: 32996808) Takayuki Kondo, Haruhiko Banno, Taro Okunomiya, Yoko Amino, Kayoko Endo, Akiyoshi Nakakura, Ryuji Uozumi, Akemi Kinoshita, Harue Tada, Satoshi Morita, Hidehiro Ishikawa, Akihiro Shindo, Ken Yasuda, Yosuke Taruno, Takakuni Maki, Takashi Suehiro, Kohji Mori, Manabu Ikeda, Koji Fujita, Yuishin Izumi, Kazutomi Kanemaru, Kenji Ishii, Kazue Shigenobu, Yumiko Kutoku, Yoshihide Sunada, Shinobu Kawakatsu, Shunji Shiota, Toshifumi Watanabe, Osamu Uchikawa, Ryosuke Takahashi, Hidekazu Tomimoto and Haruhisa Inoue :
Repurposing bromocriptine for Aβ metabolism in Alzheimer's disease (REBRAnD) study: randomised placebo-controlled double-blind comparative trial and open-label extension trial to investigate the safety and efficacy of bromocriptine in Alzheimer's disease with presenilin 1 (PSEN1) mutations,
BMJ Open, Vol.11, No.6, e051343, 2021.

(要約): Alzheimer's disease (AD) is one of the most common causes of dementia. Pathogenic variants in the presenilin 1 (PSEN1) gene are the most frequent cause of early-onset AD. Medications for patients with AD bearing PSEN1 mutation (PSEN1-AD) are limited to symptomatic therapies and no established radical treatments are available. Induced pluripotent stem cell (iPSC)-based drug repurposing identified bromocriptine as a therapeutic candidate for PSEN1-AD. In this study, we used an enrichment strategy with iPSCs to select the study population, and we will investigate the safety and efficacy of an orally administered dose of bromocriptine in patients with PSEN1-AD. This is a multicentre, randomised, placebo-controlled trial. AD patients with PSEN1 mutations and a Mini Mental State Examination-Japanese score of ≤25 will be randomly assigned, at a 2:1 ratio, to the trial drug or placebo group (≥4 patients in TW-012R and ≥2 patients in placebo). This clinical trial consists of a screening period, double-blind phase (9 months) and extension phase (3 months). The double-blind phase for evaluating the efficacy and safety is composed of the low-dose maintenance period (10 mg/day), high-dose maintenance period (22.5 mg/day) and tapering period of the trial drug. Additionally, there is an open-labelled active drug extension period for evaluating long-term safety. Primary outcomes are safety and efficacy in cognitive and psychological function. Also, exploratory investigations for the efficacy of bromocriptine by neurological scores and biomarkers will be conducted. The proposed trial is conducted according to the Declaration of Helsinki, and was approved by the Institutional Review Board (K070). The study results are expected to be disseminated at international or national conferences and published in international journals following the peer-review process. jRCT2041200008, NCT04413344.
(キーワード): Alzheimer Disease / Bromocriptine / Double-Blind Method / Drug Repositioning / Humans / Mutation / Presenilin-1 / Treatment Outcome
(徳島大学機関リポジトリ): ● Metadata: 116497
(出版サイトへのリンク): ● Publication site (DOI): 10.1136/bmjopen-2021-051343
(文献検索サイトへのリンク): ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 34193504; ● Summary page in Scopus @ Elsevier: 2-s2.0-85110062731

(徳島大学機関リポジトリ: 116497, DOI: 10.1136/bmjopen-2021-051343, PubMed: 34193504, Elsevier: Scopus) Wataru Sako, T Abe, Y Matsumoto, K Nakamura, Shotaro Haji, Yusuke Osaki, Masafumi Harada and Yuishin Izumi :
The cerebellum is a common key for visuospatial execution and attention in Parkinson's disease,
Diagnostics, Vol.11, No.6, 1042, 2021.

(要約): Cognitive decline affects the clinical course in patients with Parkinson's disease (PD) and contributes to a poor prognosis. However, little is known about the underlying network-level abnormalities associated with each cognitive domain. We aimed to identify the networks related to each cognitive domain in PD using resting-state functional magnetic resonance imaging (MRI). Forty patients with PD and 15 normal controls were enrolled. All subjects underwent MRI and the Mini-Mental State Examination. Furthermore, the cognitive function of patients with PD was assessed using the Montreal Cognitive Assessment (MoCA). We used independent component analysis of the resting-state functional MRI for functional segmentation, followed by reconstruction to identify each domain-related network, to predict scores in PD using multiple regression models. Six networks were identified, as follows: the visuospatial-executive-domain-related network ( = 0.54, < 0.001), naming-domain-related network ( = 0.39, < 0.001), attention-domain-related network ( = 0.86, < 0.001), language-domain-related network ( = 0.64, < 0.001), abstraction-related network ( = 0.10, < 0.05), and orientation-domain-related network ( = 0.64, < 0.001). Cerebellar lobule VII was involved in the visuospatial-executive-domain-related and attention-domain-related networks. These two domains are involved in the first three listed nonamnestic cognitive impairment in the diagnostic criteria for PD with dementia (PDD). Furthermore, Brodmann area 10 contributed most frequently to each domain-related network. Collectively, these findings suggest that cerebellar lobule VII may play a key role in cognitive impairment in nonamnestic types of PDD.
(キーワード): Parkinson's disease / cognition / functional MRI / network / cerebellum
(徳島大学機関リポジトリ): ● Metadata: 116520
(出版サイトへのリンク): ● Publication site (DOI): 10.3390/diagnostics11061042
(文献検索サイトへのリンク): ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 34204073; ● CiNii @ 国立情報学研究所 (CRID): 1360294643833939456; ● Summary page in Scopus @ Elsevier: 2-s2.0-85108274727

(徳島大学機関リポジトリ: 116520, DOI: 10.3390/diagnostics11061042, PubMed: 34204073, CiNii: 1360294643833939456, Elsevier: Scopus) Hiroshi Koyama, Hideo Mure, Ryoma Morigaki, Ryosuke Miyamoto, Kazuhisa Miyake, Taku Matsuda, Koji Fujita, Yuishin Izumi, Ryuji Kaji, Satoshi Goto and Yasushi Takagi :
Long-Term Follow-Up of 12 Patients Treated with Bilateral Pallidal Stimulation for Tardive Dystonia,
Life, Vol.11, No.6, 477, 2021.

(要約): Tardive dystonia (TD) is a side effect of prolonged dopamine receptor antagonist intake. TD can be a chronic disabling movement disorder despite medical treatment. We previously demonstrated successful outcomes in six patients with TD using deep brain stimulation (DBS); however, more patients are needed to better understand the efficacy of DBS for treating TD. We assessed the outcomes of 12 patients with TD who underwent globus pallidus internus (GPi) DBS by extending the follow-up period of previously reported patients and enrolling six additional patients. All patients were refractory to pharmacotherapy and were referred for surgical intervention by movement disorder neurologists. In all patients, DBS electrodes were implanted bilaterally within the GPi under general anesthesia. The mean ages at TD onset and surgery were 39.2 ± 12.3 years and 44.6 ± 12.3 years, respectively. The Burke-Fahn-Marsden Dystonia Rating Scale (BFMDRS) performed the preoperative and postoperative evaluations. The average BFMDRS improvement rate at 1 month postoperatively was 75.6 ± 27.6% ( < 0.001). Ten patients were assessed in the long term (78.0 ± 50.4 months after surgery), and the long-term BFMDRS improvement was 78.0 ± 20.4%. Two patients responded poorly to DBS. Both had a longer duration from TD onset to surgery and older age at surgery. A cognitive and psychiatric decline was observed in the oldest patients, while no such decline ware observed in the younger patients. In most patients with TD, GPi-DBS could be a beneficial therapeutic option for long-term relief of TD.
(徳島大学機関リポジトリ): ● Metadata: 116561
(出版サイトへのリンク): ● Publication site (DOI): 10.3390/life11060477
(文献検索サイトへのリンク): ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 34074009; ● Summary page in Scopus @ Elsevier: 2-s2.0-85107554331

(徳島大学機関リポジトリ: 116561, DOI: 10.3390/life11060477, PubMed: 34074009, Elsevier: Scopus) 松井尚子, 田中惠子, 和泉唯信 :
スティッフパーソン症候群,
脳と神経 - 神経研究の進歩, Vol.73, No.5, 640-646, 2021年.

(キーワード): スティッフパーソン症候群 / 筋硬直 / 筋痙攣 / 傍腫瘍症候群 / 自己抗体
(文献検索サイトへのリンク): ● CiNii @ 国立情報学研究所 (CRID): 1523951030927469056

(CiNii: 1523951030927469056) Kohei Muto, Ryosuke Miyamoto, Yuka Terasawa, Yoshimitsu Shimatani, Keijiro Hara, Takumi Kakimoto, Tatsuya Fukumoto, Yusuke Osaki, Koji Fujita, Masafumi Harada, Hisanori Uehara, Yasushi Takagi and Yuishin Izumi :
A novel COL4A1 variant associated with recurrent epistaxis and glioblastoma,
Human Genome Variation, Vol.8, No.1, 18, 2021.

(徳島大学機関リポジトリ): ● Metadata: 116530
(出版サイトへのリンク): ● Publication site (DOI): 10.1038/s41439-021-00150-0
(文献検索サイトへのリンク): ● Summary page in Scopus @ Elsevier: 2-s2.0-85105944271

(徳島大学機関リポジトリ: 116530, DOI: 10.1038/s41439-021-00150-0, Elsevier: Scopus) Tomoyasu Matsubara, Yuishin Izumi, Masaya Oda, Masatoshi Takahashi, Hirofumi Maruyama, Ryosuke Miyamoto, Chigusa Watanabe, Yoshiro Tachiyama, Hiroyuki Morino, Hideshi Kawakami, Yuko Saito and Shigeo Murayama :
An autopsy report of a familial amyotrophic lateral sclerosis case carrying VCP Arg487His mutation with a unique TDP-43 proteinopathy,
Neuropathology, Vol.41, No.2, 118-126, 2021.

(要約): We here report an autopsy case of familial amyotrophic lateral sclerosis (ALS) with p.Arg487His mutation in the valosin-containing protein (VCP) gene (VCP), in which upper motor neurons (UMNs) were predominantly involved. Moreover, our patient developed symptoms of frontotemporal dementia later in life and pathologically exhibited numerous phosphorylated transactivation response DNA-binding protein of 43 kDa (p-TDP-43)-positive neuronal cytoplasmic inclusions and short dystrophic neurites with a few lentiform neuronal intranuclear inclusions, sharing the features of frontotemporal lobar degeneration with TDP-43 pathology type A pattern. A review of previous reports of ALS with VCP mutations suggests that our case is unique in terms of its UMN-predominant lesion pattern and distribution of p-TDP-43 pathology. Thus, this case report effectively expands the clinical and pathological phenotype of ALS in patients with a VCP mutation.
(キーワード): Amyotrophic Lateral Sclerosis / Autopsy / DNA-Binding Proteins / Frontotemporal Lobar Degeneration / Humans / Intranuclear Inclusion Bodies / 男性 (male) / Middle Aged / Motor Neurons / Mutation / TDP-43 Proteinopathies / Valosin Containing Protein
(出版サイトへのリンク): ● Publication site (DOI): 10.1111/neup.12710
(文献検索サイトへのリンク): ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 33415820; ● Search Scopus @ Elsevier (PMID): 33415820; ● Search Scopus @ Elsevier (DOI): 10.1111/neup.12710

(DOI: 10.1111/neup.12710, PubMed: 33415820) Shotaro Haji, Wataru Sako, Nagahisa Murakami, Yusuke Osaki, Takahiro Furukawa, Yuishin Izumi and Ryuji Kaji :
The value of serum uric acid as a prognostic biomarker in amyotrophic lateral sclerosis: Evidence from a meta-analysis,
Clinical Neurology and Neurosurgery, Vol.203, 106566, 2021.

(徳島大学機関リポジトリ): ● Metadata: 116650
(出版サイトへのリンク): ● Publication site (DOI): 10.1016/j.clineuro.2021.106566
(文献検索サイトへのリンク): ● Search Scopus @ Elsevier (DOI): 10.1016/j.clineuro.2021.106566

(徳島大学機関リポジトリ: 116650, DOI: 10.1016/j.clineuro.2021.106566) Yusuke Osaki, Wataru Sako, Masafumi Harada and Yuishin Izumi :
Magnetic resonance tractography exhibiting retrograde degeneration of the corticospinal tract in a patient with a unilateral spinal cord tumor,
Brain and Behavior, Vol.11, No.4, e02020, 2021.

(徳島大学機関リポジトリ): ● Metadata: 116501
(出版サイトへのリンク): ● Publication site (DOI): 10.1002/brb3.2020
(文献検索サイトへのリンク): ● Search Scopus @ Elsevier (DOI): 10.1002/brb3.2020

(徳島大学機関リポジトリ: 116501, DOI: 10.1002/brb3.2020) Y Kanaya, K Kume, Hiroyuki Morino, R Ohsawa, T Kurashige, M Kamada, T Torii, Yuishin Izumi, H Maruyama and H Kawakami :
Analysis of genetic risk factors in Japanese patients with Parkinson's disease,
Journal of Human Genetics, Vol.66, No.10, 957-964, 2021.

(要約): Parkinson's disease (PD) is caused by a combination of genetic and environmental factors. Notably, genetic risk factors vary according to ethnicity and geographical regions, and few studies have analyzed the frequency of PD causative genes in Japanese patients. Therefore, we performed genetic analyses of Japanese patients with PD. We recruited 221 participants, including 26 patients with familial PD. Genetic risk factors were evaluated by target sequencing and gene dosage analysis. We detected the genetic risk factors in 58 cases (26.2%) and classified patients into three groups to clarify the differences in genetic risk factors by age at onset (AAO). The early-onset group (AAO < 50 years) included 18 cases (44.7%), who tended to have a larger number of genetic risk factors than the later-onset groups. Regarding the AAO for each causative gene, patients with PRKN variants were significantly younger at onset than those bearing LRRK2 variants. LRRK2 variants showed similar frequency in each AAO group. Of note, we identified two novel variants. Patients with early-onset PD have more genetic risk factors than patients with late-onset PD. In Japanese patients with PD, PRKN, and LRRK2 were the major PD-related genes. Particularly, LRRK2 was a common genetic factor in all age groups because of the presence of the Asian-specific variant such as LRRK2 p.G2385R. Accumulation of genetic and clinical data can contribute to the development of treatments for PD.
(キーワード): Adult / Age of Onset / Asians / Female / Genetic Predisposition to Disease / Genetic Testing / Genotype / Humans / Leucine-Rich Repeat Serine-Threonine Protein Kinase-2 / Male / Middle Aged / Parkinson Disease / Risk Factors
(出版サイトへのリンク): ● Publication site (DOI): 10.1038/s10038-021-00910-4
(文献検索サイトへのリンク): ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 33742109; ● Summary page in Scopus @ Elsevier: 2-s2.0-85102876254

(DOI: 10.1038/s10038-021-00910-4, PubMed: 33742109, Elsevier: Scopus) Takeshi Yoshida, S Suwazono, T Sueyoshi, Yuishin Izumi and Hiroyuki Nodera :
Diagnostic usefulness of denervation edema in the multifidus muscles using 3-Tesla magnetic resonance imaging in cervical radiculopathy,
Muscle & Nerve, Vol.63, No.3, 365-370, 2021.

(要約): Diagnosing cervical radiculopathy (CR) can be difficult because of symptomatic overlap with peripheral neuropathies. In this retrospective observational study, we aimed to determine whether short-tau inversion recovery (STIR) magnetic resonance imaging (MRI) sequences are useful for detecting signs of denervation in the multifidus muscles in patients with CR. We analyzed the data of 18 patients with CR who developed arm weakness within 1 year. We also included 10 patients with sensorimotor symptoms involving the upper extremities who did not have intervertebral foraminal stenosis on MRI as controls. For each patient with CR, the signal intensity (SI) of the affected multifidus muscles was measured and compared to that on the contralateral side (signal intensity ratio: SIR). Control patients without CR did not exhibit STIR signal abnormalities in the multifidus muscles. Most of the 18 patients with CR were male (83.3%), and the mean age was 59.4 years. Thirteen of 18 CR patients (72.2%) were determined to have STIR signal abnormalities by a radiologist. The mean SIR in the 13 patients with increased SI was significantly higher than that in the five patients without signal abnormalities (1.23 vs 0.97, P = .004), supporting the radiologist's diagnosis. The distribution of signal abnormalities closely followed those identified via clinical and electrophysiological tests, especially severe weakness (P = .044). Denervation edema of the multifidus muscles can be detected in CR and correlates with clinical/electrophysiological tests and weakness severity, which may aid in CR diagnostics.
(キーワード): Adult / Aged / Case-Control Studies / Cervical Vertebrae / Diagnosis, Differential / Edema / Electromyography / Female / Humans / Magnetic Resonance Imaging / Male / Middle Aged / Neuralgia / Paraspinal Muscles / Peripheral Nervous System Diseases / Radiculopathy / Retrospective Studies
(徳島大学機関リポジトリ): ● Metadata: 116387
(出版サイトへのリンク): ● Publication site (DOI): 10.1002/mus.27142
(文献検索サイトへのリンク): ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 33314190; ● Search Scopus @ Elsevier (PMID): 33314190; ● Search Scopus @ Elsevier (DOI): 10.1002/mus.27142

(徳島大学機関リポジトリ: 116387, DOI: 10.1002/mus.27142, PubMed: 33314190) Keiko Imamura, Yuichiro Yada, Yuishin Izumi, Mitsuya Morita, Akihiro Kawata, Takayo Arisato, Ayako Nagahashi, Takako Enami, Kayoko Tsukita, Hideshi Kawakami, Masanori Nakagawa, Ryosuke Takahashi and Haruhisa Inoue :
Prediction Model of Amyotrophic Lateral Sclerosis by Deep Learning with Patient Induced Pluripotent Stem Cells,
Annals of Neurology, Vol.89, No.6, 1226-1233, 2021.

(要約): In amyotrophic lateral sclerosis (ALS), early diagnosis is essential for both current and potential treatments. To find a supportive approach for the diagnosis, we constructed an artificial intelligence-based prediction model of ALS using induced pluripotent stem cells (iPSCs). Images of spinal motor neurons derived from healthy control subject and ALS patient iPSCs were analyzed by a convolutional neural network, and the algorithm achieved an area under the curve of 0.97 for classifying healthy control and ALS. This prediction model by deep learning algorithm with iPSC technology could support the diagnosis and may provide proactive treatment of ALS through future prospective research. ANN NEUROL 2021;89:1226-1233.
(キーワード): Aged / Amyotrophic Lateral Sclerosis / 深層学習 (deep learning) / Early Diagnosis / 女性 (female) / Humans / 人工多能性幹細胞 (induced pluripotent stem cells) / 男性 (male) / Middle Aged / Motor Neurons
(徳島大学機関リポジトリ): ● Metadata: 116477
(出版サイトへのリンク): ● Publication site (DOI): 10.1002/ana.26047
(文献検索サイトへのリンク): ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 33565152; ● Summary page in Scopus @ Elsevier: 2-s2.0-85101505090

(徳島大学機関リポジトリ: 116477, DOI: 10.1002/ana.26047, PubMed: 33565152, Elsevier: Scopus) Ryota Bando, Hideki Otsuka, Tamaki Otani, Noritake Matsuda, Shota Azane, Yamato Kunikane, Yoichi Otomi, Wataru Sako, Yuishin Izumi and Masafumi Harada :
A new quantitative index in the diagnosis of Parkinson syndrome by dopamine transporter single-photon emission computed tomography.,
Annals of Nuclear Medicine, Vol.35, No.4, 504-513, 2021.

(要約): Dopamine transporter single-photon emission computed tomography (DAT SPECT) has been widely used to diagnose Parkinson syndrome. Using the standardized uptake value (SUV) of DAT SPECT, we propose "functional dopamine transporter volume (f-DTV)" as a new quantitative index to evaluate the three-dimensional volume of functional dopamine transporters and assess its diagnostic ability in differentiating dopaminergic neurodegenerative diseases (dNDD) from non-dNDD. Seventy-nine patients were enrolled (42 dNDD, 37 non-dNDD; 38 men; age 24-88 years). We analyzed seven quantitative indices. The specific binding ratio (SBR) was calculated using a program specialized for DAT SPECT (SBR_Bolt). The SUVmax, SUVpeak, and SUVmean were calculated using a quantification program for bone SPECT. SBR_SUV was calculated by dividing striatal SUVmean by the average of background SUVmean. The cutoff value of the active dopamine transporter level was examined using three methods (threshold of 40% of SUVmax, SUV 2, and SUV 3) to calculate the active dopamine transporter volume (ADV). The f-DTV was calculated by multiplying ADV and SUV. We assessed the correlations between SBR_Bolt and SBR_SUV, and compared the mean value of each index between the dNDD and non-dNDD groups. The abilities of SBR_Bolt, SBR_SUV, SUVmax, SUVpeak, SUVmean, ADV, and f-DTV in differentiating dNDD from non-dNDD were determined by the area under the receiver operating curve (AUC) generated by the receiver operating characteristics analysis. The SBR_Bolt and SBR_SUV highly correlated with each other (r = 0.71). The cutoff value of the active dopamine transporter level was determined as SUV 3. All seven quantitative indices showed lower values in the dNDD group than in the non-dNDD group, and the difference between the two groups was statistically significant (p < 0.05). Sensitivity, specificity, and AUC of f-DTV were slightly lower than those of SBR_Bolt (71%, 79%, and 0.81, respectively, for f-DTV, and 81%, 84%, 0.88, respectively, for SBR_Bolt). The difference in AUC between f-DTV and SBR_Bolt was not statistically significant. This study demonstrates the utility of f-DTV as a novel quantitative index for evaluating the three-dimensional volume of functional dopamine transporters, and that f-DTV has almost the same diagnostic ability to differentiate dNDD from non-dNDD using DAT SPECT.
(キーワード): Adult / Aged / Aged, 80 and over / Biological Transport / Diagnosis, Differential / Dopamine Plasma Membrane Transport Proteins / 女性 (female) / Humans / Iodine Radioisotopes / 男性 (male) / Middle Aged / Nortropanes / パーキンソン病 (Parkinson's disease) / Phantoms, Imaging / ROC Curve / Retrospective Studies / Tomography, Emission-Computed, Single-Photon
(徳島大学機関リポジトリ): ● Metadata: 115829
(出版サイトへのリンク): ● Publication site (DOI): 10.1007/s12149-021-01592-w
(文献検索サイトへのリンク): ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 33630226; ● Summary page in Scopus @ Elsevier: 2-s2.0-85101738030

(徳島大学機関リポジトリ: 115829, DOI: 10.1007/s12149-021-01592-w, PubMed: 33630226, Elsevier: Scopus) CT Suratos, N Takamatsu, Hiroki Yamazaki, Yusuke Osaki, T Fukumoto, Hiroyuki Nodera and Yuishin Izumi :
Utility of phrenic nerve ultrasound in amyotrophic lateral sclerosis,
Acta Neurologica Belgica, Vol.121, No.1, 225-230, 2021.

(徳島大学機関リポジトリ): ● Metadata: 116266
(出版サイトへのリンク): ● Publication site (DOI): 10.1007/s13760-020-01531-y
(文献検索サイトへのリンク): ● Summary page in Scopus @ Elsevier: 2-s2.0-85094859144

(徳島大学機関リポジトリ: 116266, DOI: 10.1007/s13760-020-01531-y, Elsevier: Scopus) T Fukumoto, Ryosuke Miyamoto, Koji Fujita, N Murakami, Naoko Matsui and Yuishin Izumi :
Reversible mixed perfusion on 123 I-IMP SPECT in anti-AMPA receptor encephalitis: A case report,
Journal of the Neurological Sciences, Vol.421, 117306, 2021.

(キーワード): Encephalitis / Humans / Inosine Monophosphate / Iodine Radioisotopes / Iofetamine / Perfusion / Receptors, AMPA / Tomography, Emission-Computed, Single-Photon
(出版サイトへのリンク): ● Publication site (DOI): 10.1016/j.jns.2020.117306
(文献検索サイトへのリンク): ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 33450618; ● Search Scopus @ Elsevier (PMID): 33450618; ● Search Scopus @ Elsevier (DOI): 10.1016/j.jns.2020.117306

(DOI: 10.1016/j.jns.2020.117306, PubMed: 33450618) R Nakamura, G Tohnai, N Atsuta, M Nakatochi, N Hayashi, H Watanabe, D Yokoi, H Watanabe, M Katsuno, Yuishin Izumi, A Taniguchi, K Kanai, M Morita, O Kano, S Kuwabara, M Oda, K Abe, M Aoki, I Aiba, K Okamoto, K Mizoguchi, N Hattori, K Nakashima, Ryuji Kaji, G Sobue and Japanese Consortium for Amyotrophic Lateral Sclerosis Research (JaCALS) :
Genetic and functional analysis of KIF5A variants in Japanese patients with sporadic amyotrophic lateral sclerosis,
Neurobiology of Aging, Vol.97, No.147, e11-e17, 2021.

(要約): Two recent genetic studies reported that loss-of-function mutation of the C-terminal cargo-binding tail domain of the KIF5A gene cause amyotrophic lateral sclerosis (ALS). The aim of this study is to investigate the frequency of KIF5A variants in Japanese patients with sporadic ALS. In total, 807 sporadic ALS patients and 191 normal controls from a multicenter ALS cohort in Japan were included. Whole exome sequencing on an Illumina HiSeq 2000/2500 sequencer was used to identify and select variants within the KIF5A gene. Thirteen patients harbored a nonsynonymous variant in the KIF5A gene; These were considered variants of uncertain significance. One patient harbored a novel splice-site variant (c.2993-3C>A) in the C-terminal cargo-binding tail domain of the KIF5A gene. Functional analysis of this variant revealed that it caused skipping of exon 27. The frequency of KIF5A mutations in Japanese patients with sporadic ALS was 0.12% (1/807). This study reports a novel loss-of-function variant in KIF5A, and indicates that loss-of-function variant in KIF5A is a rare cause of sporadic ALS in Japanese patients.
(キーワード): Amyotrophic Lateral Sclerosis / Asian People / Exons / Genetic Association Studies / Genetic Predisposition to Disease / Humans / Japan / Kinesins / Loss of Function Mutation
(出版サイトへのリンク): ● Publication site (DOI): 10.1016/j.neurobiolaging.2020.07.010
(文献検索サイトへのリンク): ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 32888732; ● Search Scopus @ Elsevier (PMID): 32888732; ● Search Scopus @ Elsevier (DOI): 10.1016/j.neurobiolaging.2020.07.010

(DOI: 10.1016/j.neurobiolaging.2020.07.010, PubMed: 32888732) Daisy Ma Tabuena, Ryoma Morigaki, Ryosuke Miyamoto, Hideo Mure, Nobuaki Yamamoto, Kazuhisa Miyake, Taku Matsuda, Yuishin Izumi, Yasushi Takagi, P Rollin Tabuena and Toshitaka Kawarai :
Ataxia with vitamin E deficiency in the Philippines: A case report of two siblings.,
The Journal of Medical Investigation : JMI, Vol.68, No.3.4, 400-403, 2021.

(要約): Here we report two siblings with ataxia and peripheral neuropathy. One patient showed head tremors. Genetic analysis revealed a mutation in the hepatic α-tocopherol transfer protein (α-TTP) gene (TTPA) on chromosome 8q13. They were diagnosed with ataxia with vitamin E deficiency which is firstly reported in the Philippines. As the symptoms of ataxia with vitamin E deficiency can be alleviated with lifelong vitamin E administration, differential diagnosis from similar syndromes is important. In addition, ataxia with vitamin E deficiency causes movement disorders. Therefore, a common hereditary disease in the Philippines, X-linked dystonia-parkinsonism, could be another differential diagnosis. The Philippines is an archipelago comprising 7,107 islands, and the prevalence of rare hereditary diseases among the populations of small islands is still unclear. For neurologists, establishing a system of genetic diagnosis and counseling in rural areas remains challenging. These unresolved problems should be addressed in the near future. J. Med. Invest. 68 : 400-403, August, 2021.
(キーワード): Ataxia / Humans / Philippines / Siblings / Vitamin E Deficiency
(徳島大学機関リポジトリ): ● Metadata: 116574
(出版サイトへのリンク): ● Publication site (DOI): 10.2152/jmi.68.400
(文献検索サイトへのリンク): ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 34759169; ● Search Scopus @ Elsevier (PMID): 34759169; ● Search Scopus @ Elsevier (DOI): 10.2152/jmi.68.400

(徳島大学機関リポジトリ: 116574, DOI: 10.2152/jmi.68.400, PubMed: 34759169) 山﨑博輝, 高松直子, 野寺裕之, 松田拓, 牟礼英生, 安田宗義, 和泉唯信 :
神経超音波を用いた症状誘発肢位での動的評価が診断の一助となった真の神経原性胸部出口症候群の1例,
臨床神経生理学, Vol.49, No.6, 85-88, 2021年. Tsuyoshi Okuno, T Takeuchi, E Takeda, Yuishin Izumi and Ryuji Kaji :
Clinical uses of a robot (hybrid-assisted limb or HALTM)in patients with post-stroke spasticity after botulinum toxin injections,
The Journal of Medical Investigation : JMI, Vol.68, No.3,4, 297-301, 2021.

(要約): Spasticity is the major cause of disabilities in stroke-survivors. Botulinum neurotoxin (BoNT) injections have been used to reduce the muscle tone in those patients, but its efficacy in functional outcome is not well delineated. We have studied the effect of a robot (Hybrid-Assisted Limb or HAL™) designed for assisting the elbow flexion and extension in those who underwent BoNT injections with reduced muscle tone. We enrolled 15 post stroke patients who had BoNT injections for more than 12 months. They were measured for active ROM (range of motion) with video recordings before and after the use of HAL for 40 minutes. Active ROM was measured by a rater who were blinded as to the use of the robot. Significant increase of active ROM was observed immediately after the use of HAL, and the effect was maintained for another 12 months by repeating the sessions. It is suggested from present study that the combined use of BoNT and robotics is effective efficacious for regaining the active function of the upper limb in stroke survivors. J. Med. Invest. 68 : 297-301, August, 2021.
(キーワード): Botulinum Toxins, Type A / Humans / Muscle Spasticity / Neuromuscular Agents / Robotics / Treatment Outcome
(徳島大学機関リポジトリ): ● Metadata: 116385
(出版サイトへのリンク): ● Publication site (DOI): 10.2152/jmi.68.297
(文献検索サイトへのリンク): ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 34759148; ● Search Scopus @ Elsevier (PMID): 34759148; ● Search Scopus @ Elsevier (DOI): 10.2152/jmi.68.297

(徳島大学機関リポジトリ: 116385, DOI: 10.2152/jmi.68.297, PubMed: 34759148) 和泉唯信, 福島功士, 沖良祐 :
筋萎縮性側索硬化症(ALS)を疑う神経症候とその特徴筋力低下，体のぴくつき,
Medicina, Vol.57, No.13, 2354-2357, 2020年.

(出版サイトへのリンク): ● Publication site (DOI): 10.11477/mf.1402227359
(文献検索サイトへのリンク): ● CiNii @ 国立情報学研究所 (CRID): 1391131406304194688; ● Search Scopus @ Elsevier (DOI): 10.11477/mf.1402227359

(DOI: 10.11477/mf.1402227359, CiNii: 1391131406304194688) 伊藤一慶, 丸川章, 織田雅也, 和泉唯信 :
言語聴覚士脳神経内科を標榜する療養型病床における言語聴覚士の役割,
難病と在宅ケア, Vol.26, No.8, 41-44, 2020年.

(文献検索サイトへのリンク): ● CiNii @ 国立情報学研究所 (CRID): 1522825130969032832

(CiNii: 1522825130969032832) Nobuaki Yamamoto, Yuishin Izumi, Yuki Yamamoto, K Kuroda, Izumi Yamaguchi, Shu Sogabe, Takeshi Miyamoto, Kenji Shimada, Yasuhisa Kanematsu, Ryoma Morigaki and Yasushi Takagi :
Factors associated with DWI-ASPECTS score in patients with acute ischemic stroke due to cerebral large vessel occlusion,
Clinical Neurology and Neurosurgery, Vol.199, 106316, 2020.

(要約): The Alberta Stroke Program Early CT score (ASPECTS) of patients with acute ischemic stroke at the time of admission varies. It is crucial to select appropriate methods of treatment, such as recombinant tissue-plasminogen activator, and/or endovascular thrombectomy. According to the recent guidelines, endovascular thrombectomy for patients with large vessel occlusion (LVO) and lesion of ischemic tissue that was not yet infarcted is effective. This result demonstrates the importance of patient selection based on neuroradiological imaging. However, there are many patients who are judged as ineligibility for recanalization therapy because of presence of large ischemic core, indicating unfavorable ASPECTS, at the time of admission. We investigated the factors associated with favorable diffusion-weighted image (DWI)-ASPECTS score at the time of admission. We studies patients with LVO within 24 h from onset who were admitted into our hospital. We divided them into two groups, with favorable DWI-ASPECTS (≥6), and unfavorable DWI-ASPECTS (<6) at the time of admission. We investigated factors associated with favorable DWI-ASPECTS by evaluation of our patients' severity of clinical symptom, etiology, and radiological findings. This study showed that mild white matter lesion (Fazekas scale ≤1), absence of internal carotid artery (ICA) occlusion and cardioembolic stroke were independent factor of favorable DWI-ASPECTS at the time of admission. (odds ratio 12.92, p < 0.001, odds ratio 0.31, p = 0.001, odds ratio 0.16, p = 0.001, respectively) CONCLUSIONS: Absence of severe white matter lesion, cardioembolic stroke, and ICA occlusion might be associated with favorable DWI-ASPECTS at the time of admission.
(キーワード): Aged / Aged, 80 and over / Brain Ischemia / Cerebrovascular Disorders / Diffusion Magnetic Resonance Imaging / Female / Humans / Ischemic Stroke / Male / Middle Aged / Patient Admission / Prospective Studies / Retrospective Studies / Severity of Illness Index
(出版サイトへのリンク): ● Publication site (DOI): 10.1016/j.clineuro.2020.106316
(文献検索サイトへのリンク): ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 33161217; ● Search Scopus @ Elsevier (PMID): 33161217; ● Search Scopus @ Elsevier (DOI): 10.1016/j.clineuro.2020.106316

(DOI: 10.1016/j.clineuro.2020.106316, PubMed: 33161217) Nobuhito Naito, Hiroshi Kawano, Yuya Yamashita, Mayo Kondou, Shotaro Haji, Ryosuke Miyamoto, Yuko Toyoda, Yasuhisa Kanematsu, Yuishin Izumi, Yoshimi Bando and Yasuhiko Nishioka :
Neuropsychiatric systemic lupus erythematosus with cerebellar vasculitis and obstructive hydrocephalus requiring decompressive craniectomy.,
Modern Rheumatology Case Reports, Vol.5, No.1, 52-57, 2020.

(要約): A 36-year-old woman who had been diagnosed with systemic lupus erythematosus (SLE) was admitted to our hospital due to increasing disease SLE activity. Despite the intensification of immunosuppressive treatment, headache newly developed and worsened. Magnetic resonance imaging (MRI) revealed spreading of a high-intensity area along the sulci of the bilateral cerebellar hemispheres. She was diagnosed with neuropsychiatric SLE and methylprednisolone (mPSL) pulse therapy was started. However, consciousness disorder due to cerebellar oedema with obstructive hydrocephalus appeared and required decompressive craniectomy. The histological findings of the biopsy specimens from cerebellar vermis were compatible with features of vasculitis. She was successfully treated adding intravenous cyclophosphamide therapy.
(出版サイトへのリンク): ● Publication site (DOI): 10.1080/24725625.2020.1826626
(文献検索サイトへのリンク): ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 33021438; ● Search Scopus @ Elsevier (PMID): 33021438; ● Search Scopus @ Elsevier (DOI): 10.1080/24725625.2020.1826626

(DOI: 10.1080/24725625.2020.1826626, PubMed: 33021438) M Yoshida, K Kondo, Naoko Matsui, Yuishin Izumi, Y Bando, M Yokoishi, K Kajiura and Akira Tangoku :
Prediction of improvement after extended thymectomy in non-thymomatous myasthenia gravis patients,
PLoS ONE, Vol.15, No.10, e0239756, 2020.

(要約): It is popularly believed that myasthenia gravis (MG) patients show acetylcholine receptor antibody (AChRAb) production associated with the thymus (germinal centers, approximately 80%). It has been suggested that thymectomy can remove the area of autoantibody production. This study aimed to determine whether the solid volume of the thymus calculated using three-dimensional (3D) imaging could be used to predict the efficacy of thymectomy. Additionally, the study assessed the relationships of the solid volume with germinal centers, change in the serum AChRAb level, postoperative MG improvement, and prednisolone (PSL) dose reduction extent. This retrospective study included 12 consecutive non-thymomatous MG patients (9 female and 3 male patients), who underwent extended thymectomy at our institution over the last 10 years. The mean patient age was 43.3 ± 14.2 years (range, 12-59 years). The study assessed the number of germinal centers per unit area, change in the serum AChRAb level, postoperative MG improvement, PSL dose reduction extent, and solid volume of the thymus. The number of germinal centers per unit area was significantly correlated with the solid volume of the thymus. The PSL dose reduction extent tended to be correlated with the solid volume. Our findings suggest that the solid volume of the thymus can possibly predict steroid dose reduction. Additionally, the solid volume of the thymus in 3D images is the most important indicator for predicting the efficacy of extended thymectomy.
(キーワード): Adult / Autoantibodies / Female / Humans / Male / Myasthenia Gravis / Receptors, Cholinergic / Retrospective Studies / Thymectomy / Thymoma / Thymus Neoplasms
(徳島大学機関リポジトリ): ● Metadata: 116622
(出版サイトへのリンク): ● Publication site (DOI): 10.1371/journal.pone.0239756
(文献検索サイトへのリンク): ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 33017427; ● Search Scopus @ Elsevier (PMID): 33017427; ● Search Scopus @ Elsevier (DOI): 10.1371/journal.pone.0239756

(徳島大学機関リポジトリ: 116622, DOI: 10.1371/journal.pone.0239756, PubMed: 33017427) R Nakamura, K Misawa, G Tohnai, M Nakatochi, S Furuhashi, N Atsuta, N Hayashi, D Yokoi, H Watanabe, M Katsuno, Yuishin Izumi, K Kanai, N Hattori, M Morita, A Taniguchi, O Kano, M Oda, K Shibuya, S Kuwabara, N Suzuki, M Aoki, Y Ohta, T Yamashita, K Abe, R Hashimoto, I Aiba, K Okamoto, K Mizoguchi, K Hasegawa, Y Okada, T Ishihara, O Onodera, K Nakashima, Ryuji Kaji, Y Kamatani, S Ikegawa, Y Momozawa, M Kubo, N Ishida, N Minegishi, M Nagasaki and G Sobue :
A multi-ethnic meta-analysis identifies novel genes, including ACSL5, associated with amyotrophic lateral sclerosis,
Communications Biology, Vol.3, No.1, 526, 2020.

(要約): Amyotrophic lateral sclerosis (ALS) is a devastating progressive motor neuron disease that affects people of all ethnicities. Approximately 90% of ALS cases are sporadic and thought to have multifactorial pathogenesis. To understand the genetics of sporadic ALS, we conducted a genome-wide association study using 1,173 sporadic ALS cases and 8,925 controls in a Japanese population. A combined meta-analysis of our Japanese cohort with individuals of European ancestry revealed a significant association at the ACSL5 locus (top SNP p = 2.97 × 10). We validated the association with ACSL5 in a replication study with a Chinese population and an independent Japanese population (1941 ALS cases, 3821 controls; top SNP p = 1.82 × 10). In the combined meta-analysis, the intronic ACSL5 SNP rs3736947 showed the strongest association (p = 7.81 × 10). Using a gene-based analysis of the full multi-ethnic dataset, we uncovered additional genes significantly associated with ALS: ERGIC1, RAPGEF5, FNBP1, and ATXN3. These results advance our understanding of the genetic basis of sporadic ALS.
(キーワード): Amyotrophic Lateral Sclerosis / Asian Continental Ancestry Group / Case-Control Studies / China / Coenzyme A Ligases / European Continental Ancestry Group / Female / Genes / Genetic Predisposition to Disease / Genome-Wide Association Study / Humans / Japan / Male / Polymorphism, Single Nucleotide
(徳島大学機関リポジトリ): ● Metadata: 116518
(出版サイトへのリンク): ● Publication site (DOI): 10.1038/s42003-020-01251-2
(文献検索サイトへのリンク): ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 32968195; ● Search Scopus @ Elsevier (PMID): 32968195; ● Search Scopus @ Elsevier (DOI): 10.1038/s42003-020-01251-2

(徳島大学機関リポジトリ: 116518, DOI: 10.1038/s42003-020-01251-2, PubMed: 32968195) Ryosuke Miyamoto, Toshitaka Kawarai, T Takeuchi, Yuishin Izumi, Satoshi Goto and Ryuji Kaji :
Efficacy of Istradefylline for the Treatment of ADCY5-Related Disease,
Movement Disorders Clinical Practice, Vol.7, No.7, 852-853, 2020.

(要約): View Supplementary Video 1 View Supplementary Video 2.
(出版サイトへのリンク): ● Publication site (DOI): 10.1002/mdc3.13067
(文献検索サイトへのリンク): ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 33043083; ● Search Scopus @ Elsevier (PMID): 33043083; ● Search Scopus @ Elsevier (DOI): 10.1002/mdc3.13067

(DOI: 10.1002/mdc3.13067, PubMed: 33043083) 高松直子, 大崎裕亮, 山﨑博輝, 黒田一駿, 小川博久, 上原久典, 常山幸一, 野寺裕之, 和泉唯信 :
腕神経叢エコー検査が契機となって悪性腫瘍が診断できた1例,
神経超音波医学, Vol.33, No.2, 36-40, 2020年.

(要約): A 72-year-old man admitted to our hospital due to severe pain and drop hand in the left arm. MRI and CT of the head and neck at an outside hospital showed no abnormality. Neurological findings revealed distal weakness in the left upper extremity, vague pain between the radial aspect of the left hand and the middle of the digits 1-3, as well as brisk reflexes in the left extremities. Small masses were palpable in the posterior neck, the lower jaw, and the left neck. Clinically, left radial neuropathy and cervical radiculopathy were suspected. We performed ultrasound of the nerve roots, brachial plexus, and the radial nerve. There was a mass compressing the left brachial plexus from the caudolateral direction. Additionally, nerve swelling in the left arm was identified. Skin biopsy over the mass suggested metastatic adenocarcinoma. Chest CT scan showed a mass in the upper right lobe suggestive of a lung cancer. We concluded that the pain was due to radial neuropathy and upper and middle trunk disturbance of the left brachial plexopathy, of which neuromuscular ultrasound was useful in diagnosis.
(キーワード): upper limb pain / brachial plexus ultrasound / metastasis
(出版サイトへのリンク): ● Publication site (DOI): 10.2301/neurosonology.33.36
(文献検索サイトへのリンク): ● CiNii @ 国立情報学研究所 (CRID): 1390567172576336384; ● Search Scopus @ Elsevier (DOI): 10.2301/neurosonology.33.36

(DOI: 10.2301/neurosonology.33.36, CiNii: 1390567172576336384) Yamamoto Yuki, Nobuaki Yamamoto, Koji Fujita, Fukumoto Tatsuya, Murakami Nagahisa, Hideo Mure, Yasuhisa Kanematsu, Yasushi Takagi and Yuishin Izumi :
Cerebral Venous Thrombosis: An Unexpected Complication with Cerebrospinal Fluid Leaks after a Fall in a Patient with Spinocerebellar Ataxia Type 6.,
Internal Medicine, Vol.59, No.14, 1749-1753, 2020.

(徳島大学機関リポジトリ): ● Metadata: 115918
(出版サイトへのリンク): ● Publication site (DOI): 10.2169/internalmedicine.4388-20
(文献検索サイトへのリンク): ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 32238726; ● Search Scopus @ Elsevier (PMID): 32238726; ● Search Scopus @ Elsevier (DOI): 10.2169/internalmedicine.4388-20

(徳島大学機関リポジトリ: 115918, DOI: 10.2169/internalmedicine.4388-20, PubMed: 32238726) Y Watanabe, J Raaphorst, Yuishin Izumi, H Yoshino, S Ito, T Adachi, H Takigawa, M Masuda, N Atsuta, Y Adachi, S Isose, K Arai, O Yokota, M Oda, M Ogino, H Ichikawa, K Hasegawa, H Kimura, T Shimizu, I Aiba, H Yabe, M Kanba, K Kusumi, T Aoki, Y Hiroe, H Watanabe, K Nishiyama, M Nomoto, G Sobue, E Beeldman, R Hanajima, K Nakashima and group research ALS-FTD-Q-J :
Cognitive and Behavioral Status in Japanese ALS Patients: A Multicenter Study,
Journal of Neurology, Vol.267, No.5, 1321-1330, 2020.

(要約): Amyotrophic lateral sclerosis (ALS) patients may present with cognitive and behavioral abnormalities similar to frontotemporal dementia (FTD). In this multicenter study we examined Japanese ALS patients with and without FTD in order to characterize the full extent of cognitive and behavioral abnormalities, including associations with functional motor status, anxiety and depression. Patients were evaluated using the Montreal Cognitive Assessment (MoCA), Frontal Assessment Battery (FAB), Hospital Anxiety and Depression Scale, ALS Functional Rating Scale-Revised, spirometry, and verbal fluency tests. Caregivers were asked to complete the ALS-FTD-Questionnaire (ALS-FTD-Q), a behavioral screen. We defined severe cognitive impairment (MoCA < 21 or FAB < 11), mild impairment (11 ≤ MoCA ≤ 25 or 11 ≤ FAB ≤ 15), and normal cognition (MoCA > 25 or FAB > 15). Severe and mild behavioral impairments and normal behavior were defined by the ALS-FTD-Q scores. In 145 ALS patients, better cognitive scores were correlated with earlier age at onset, whereas a worse behavioral score was associated with a longer disease duration and higher level of anxiety and depression. Around seventy percent of all ALS patients showed mild (40-45%) or severe cognitive impairment with cognitive impairment outnumbering behavioral impairment fivefold. Cognitive functions were more impaired in patients with age of onset over 65 years, while behavioral scores were not related to age. Considering the high prevalence of in particular cognitive impairment, and the diversity of impairments, the cognitive and behavioral aspects of Japanese ALS patients should be given more attention clinically.
(出版サイトへのリンク): ● Publication site (DOI): 10.1007/s00415-019-09655-9
(文献検索サイトへのリンク): ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 31955246; ● Summary page in Scopus @ Elsevier: 2-s2.0-85078622694

(DOI: 10.1007/s00415-019-09655-9, PubMed: 31955246, Elsevier: Scopus) N Hayashi, N Atsuta, D Yokoi, R Nakamura, M Nakatochi, M Katsuno, Yuishin Izumi, K Kanai, N Hattori, A Taniguchi, M Morita, O Kano, K Shibuya, S Kuwabara, N Suzuki, M Aoki, I Aiba, K Mizoguchi, M Oda, Ryuji Kaji and G Sobue :
Prognosis of Amyotrophic Lateral Sclerosis Patients Undergoing Tracheostomy Invasive Ventilation Therapy in Japan,
Journal of Neurology, Neurosurgery, and Psychiatry, Vol.91, No.3, 285-290, 2020.

(要約): The aim of this study is to describe and clarify the factors affecting the prognosis of Japanese patients with amyotrophic lateral sclerosis (ALS) undergoing tracheostomy invasive ventilation (TIV) therapy. We conducted a prospective longitudinal observational case-control study using a multicentre registry. ALS patients who started TIV therapy after registration (TIV group) and those who did not receive TIV (non-TIV group) were included. We compared the survival time between the TIV group and the non-TIV group using a propensity score matching analysis and evaluated the prognostic factors in the TIV group. From February 2006 to January 2018, 190 patients in the TIV group and 1093 patients in the non-TIV group were included in this study. The mean age of disease onset and usage rate of gastrostomy and non-invasive ventilation therapy differed between the groups. In the propensity score matching analysis using known prognostic factors, the median overall survival time of the TIV group was significantly greater than that of the non-TIV group (11.33 years vs 4.61 years; p<0.001). Analysis using the Cox proportional hazard model suggested that older age of onset and respiratory onset was an independent factor for poor prognosis after starting TIV therapy. We showed that there was a significant difference of approximately 7 years in life expectancy between Japanese ALS patients who did and did not receive TIV therapy.
(出版サイトへのリンク): ● Publication site (DOI): 10.1136/jnnp-2019-322213
(文献検索サイトへのリンク): ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 31937581; ● Summary page in Scopus @ Elsevier: 2-s2.0-85077977240

(DOI: 10.1136/jnnp-2019-322213, PubMed: 31937581, Elsevier: Scopus) Nagahisa Murakami, Wataru Sako, Shotaroh Haji, T Furukawa, Y Otomi, H Otsuka, Yuishin Izumi, Masafumi Harada and Ryuji Kaji :
Differences in Cerebellar Perfusion Between Parkinson's Disease and Multiple System Atrophy,
Journal of the Neurological Sciences, Vol.409, 116627, 2020.

(要約): Objective biomarkers are required for differential diagnosis of Parkinson's disease (PD), multiple system atrophy (MSA) and progressive supranuclear palsy (PSP). We aimed to determine if cerebellar blood flow, measured using N-isopropyl-[I] p-iodoamphetamine single photon emission computed tomography (I -IMP-SPECT), was useful for differentiating between PD, MSA and PSP. Twenty-four patients with PD, seventeen patients with MSA with predominant parkinsonian features (MSA-P), sixteenth patients with MSA with predominant cerebellar ataxia (MSA-C) and eight patients with PSP were enrolled. Twenty-seven normal controls' data were used for the calculation of z score. All patients underwent I -IMP-SPECT, and data were analyzed using a three-dimensional-stereotactic surface projection program. Cerebellar perfusion in MSA-P (MSA-P vs PD, P = .002; MSA-P vs PSP, P < .001) and MSA-C (MSA-C vs PD, P < .001; MSA-C vs PSP, P < .001) were significantly decreased compared with PD or PSP. There was no significant difference in perfusion between PD and PSP groups (P = .061). The area under the receiver operating characteristic curve for cerebellar perfusion between MSA-P and PD was 0.858. Our findings revealed that cerebellar perfusion by I-IMP-SPECT was useful for differentiating between PD and MSA-P.
(出版サイトへのリンク): ● Publication site (DOI): 10.1016/j.jns.2019.116627
(文献検索サイトへのリンク): ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 31865188; ● Summary page in Scopus @ Elsevier: 2-s2.0-85076518855

(DOI: 10.1016/j.jns.2019.116627, PubMed: 31865188, Elsevier: Scopus) Kengo Udaka, Shingen Nakamura, Shiroh Fujii, Ryosuke Miyamoto, Naoko Matsui, Shiyori Kawata, Taiki Hori, Junpei Murai, Ryohei Sumitani, Masahiro Oura, Kimiko Sogabe, Mamiko Takahashi, Takeshi Harada, Kumiko Kagawa, Yuishin Izumi, Masahiro Abe and Hirokazu Miki :
Successful treatment of progressive multifocal leukoencephalopathy with mirtazapine and mefloquine in refractory myeloma,
International Journal of Myeloma, Vol.10, No.1, 8-12, 2020. K Imamura, Yuishin Izumi, H Banno, R Uozumi, S Morita, N Egawa, T Ayaki, M Nagai, K Nishiyama, Y Watanabe, R Hanajima, R Oki, K Fujita, N Takahashi, T Ikeda, A Shimizu, A Morinaga, T Hirohashi, Y Fujii, R Takahashi and H Inoue :
Induced pluripotent stem cell-based Drug Repurposing for Amyotrophic lateral sclerosis Medicine (iDReAM) study: protocol for a phase I dose escalation study of bosutinib for amyotrophic lateral sclerosis patients,
BMJ Open, Vol.9, No.12, e033131, 2019.

(要約): Amyotrophic lateral sclerosis (ALS) is a progressive and severe neurodegenerative disease caused by motor neuron death. There have as yet been no fundamental curative medicines, and the development of a medicine for ALS is urgently required. Induced pluripotent stem cell (iPSC)-based drug repurposing identified an Src/c-Abl inhibitor, bosutinib, as a candidate molecular targeted therapy for ALS. The objectives of this study are to evaluate the safety and tolerability of bosutinib for the treatment of patients with ALS and to explore the efficacy of bosutinib on ALS. This study is the first clinical trial of administered bosutinib for patients with ALS. An open-label, multicentre phase I dose escalation study has been designed. The study consists of a 12-week observation period, a 1-week transitional period, a 12-week study treatment period and a 4-week follow-up period. After completion of the transitional period, subjects whose total ALS Functional Rating Scale-Revised (ALSFRS-R) score decreased by 1-3 points during the 12-week observation period receive bosutinib for 12 weeks. Three to six patients with ALS are enrolled in each of the four bosutinib dose levels (100, 200, 300 or 400 mg/day) to evaluate the safety and tolerability under a 3+3 dose escalation study design. Dose escalation and maximum tolerated dose are determined by the safety assessment committee comprising oncologists/haematologists and neurologists based on the incidence of dose-limiting toxicity in the first 4 weeks of the treatment at each dose level. A recommended phase II dose is determined by the safety assessment committee on completion of the 12-week study treatment in all subjects at all dose levels. The efficacy of bosutinib is also evaluated exploratorily using ALS clinical scores and biomarkers. This study received full ethical approval from the institutional review board of each participating site. The findings of the study will be disseminated in peer-reviewed journals and at scientific conferences. UMIN000036295; Pre-results, JMA-IIA00419; Pre-results.
(徳島大学機関リポジトリ): ● Metadata: 115248
(出版サイトへのリンク): ● Publication site (DOI): 10.1136/bmjopen-2019-033131
(文献検索サイトへのリンク): ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 31796494; ● Summary page in Scopus @ Elsevier: 2-s2.0-85076091804

(徳島大学機関リポジトリ: 115248, DOI: 10.1136/bmjopen-2019-033131, PubMed: 31796494, Elsevier: Scopus) Nobuaki Yamamoto, Yuki Yamamoto, Izumi Yamaguchi, Manabu Ishihara, Takeshi Miyamoto, Masaaki Korai, Kenji Shimada, Yasuhisa Kanematsu, Yuishin Izumi and Yasushi Takagi :
Cone beam-computed tomography angiography by intravenous contrast injection is reliable to evaluate patients with large vessel occlusion,
Journal of Clinical Neuroscience, Vol.70, 67-71, 2019.

(要約): Mechanical thrombectomy (MT) for acute ischemic stroke (AIS) patients due to emergent large vessel occlusion (ELVO) is standard treatment, the benefits, however, are highly time-sensitive. After patient eligibility for reperfusion therapy is determined by conventional radiological examinations, the time to be transferred from the department of radiological examination to angiography-suites is critical. We speculated that the time required for the diagnosis of AIS might be reduced if we could determine MT eligibility in patients with ELVO at angiography-suites. Modern angiography-suites with flat panel detectors can perform cone beam (CB)-CT. We performed CB-CTA using intravenous injection of contrast agent to evaluate occlusion sites, collateral score, and construction of vessels distal to occlusion sites and determined if CB-CTA could be useful to evaluate patients with ELVO. We included 15 patients with ELVO diagnosed by conventional MRI or CT/CTA, and investigated whether CB-CTA was reliable to diagnose occlusion sites. We also studied if collateral score on CB-CTA was associated with prognosis after successful reperfusion by MT by comparison between favorable (modified Rankin scale (mRS) 0-2), and unfavorable outcome group (mRS 3-6). There was strong agreement of occlusion sites between CB-CTA and conventional radiological examination (κ = 0.80). Collateral score determined by CB-CTA was significantly different between favorable outcome and unfavorable outcome group (median collateral score 2.3 v.s. 1.3, p = 0.040). Although prospective study of AIS patients at a radiography department is indispensable, CB-CTA performed in an angiography-suite might be useful to evaluate patients with ELVO.
(キーワード): Aged / Aged, 80 and over / Brain Ischemia / Carotid Artery Thrombosis / Computed Tomography Angiography / Contrast Media / Female / Humans / Infarction, Middle Cerebral Artery / Injections, Intravenous / Male / Middle Aged / Prognosis / Reperfusion / Retrospective Studies / Thrombectomy / Treatment Outcome
(出版サイトへのリンク): ● Publication site (DOI): 10.1016/j.jocn.2019.08.078
(文献検索サイトへのリンク): ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 31445814; ● Summary page in Scopus @ Elsevier: 2-s2.0-85070874852

(DOI: 10.1016/j.jocn.2019.08.078, PubMed: 31445814, Elsevier: Scopus) 和泉唯信, Ryosuke Oki, Satoshi Kuwabara, 梶龍兒 :
メコバラミン,
脳と神経 - 神経研究の進歩, Vol.71, No.11, 1261-1269, 2019年.

(要約): 高用量メコバラミンは臨床経験をとおして筋萎縮性側索硬化症(ALS)に対する有効性が示唆され，第Ⅱ/Ⅲ相試験(E0302-J081-761)において部分解析ではあるが発症1年以内のALS患者に対して生存期間延長とALS機能評価スケール(ALSFRS-R)合計点数の低下の抑制効果が認められた．今回われわれは発症1年以内のALS患者に対する高用量メコバラミン(E0302)の有効性・安全性の検証を目的として「高用量E0302の筋萎縮性側索硬化症に対する第Ⅲ相試験—医師主導治験—」(JETALS)を開始した．本治験は前向き，多施設共同，プラセボ対象，二重盲検，ランダム化比較第Ⅲ相試験であり，国内25施設が参加する．128例の被験者に対して16週にわたりE0302 50mgもしくはプラセボの週2回筋肉注射を行う．主要評価項目は割付日から16週目までのALSFRS-R合計点数の変化量である．症例登録期間は2017年11月∼2019年9月であり，2020年3月に治験終了予定である．有効性が確認され早期に承認されることが期待される．
(キーワード): Amyotrophic Lateral Sclerosis / Double-Blind Method / Humans / 日本 (Japan) / Prospective Studies / Vitamin B 12
(出版サイトへのリンク): ● Publication site (DOI): 10.11477/mf.1416201436
(文献検索サイトへのリンク): ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 31722312; ● Summary page in Scopus @ Elsevier: 2-s2.0-85074961295

(DOI: 10.11477/mf.1416201436, PubMed: 31722312, Elsevier: Scopus) Koji Fujita, Tomoyasu Matsubara, Ryosuke Miyamoto, Hiroyuki Sumikura, Toshiaki Takeuchi, Keiko Saladini Maruyama, Toshitaka Kawarai, Hiroyuki Nodera, Fukashi Udaka, Kodai Kume, Hiroyuki Morino, Hideshi Kawakami, Masato Hasegawa, Ryuji Kaji, Shigeo Murayama and Yuishin Izumi :
Co-morbidity of progressive supranuclear palsy and amyotrophic lateral sclerosis: a clinical-pathological case report.,
BMC Neurology, Vol.19, No.1, 168, 2019.

(要約): A 77-year-old man presented with gait disturbance for 2 years, consistent with PSP with progressive gait freezing. At 79 years old, he developed muscle weakness compatible with ALS. The disease duration was 5 years after the onset of PSP and 5 months after the onset of ALS. Neuropathological findings demonstrated the coexistence of PSP and ALS. Immunohistochemical examination confirmed 4-repeat tauopathy, including globose-type neurofibrillary tangles, tufted astrocytes, and oligodendroglial coiled bodies as well as TAR DNA-binding protein 43 kDa pathology in association with upper and lower motor neuron degeneration. Immunoblotting showed hyperphosphorylated full-length 4-repeat tau bands (64 and 68 kDa) and C-terminal fragments (33 kDa), supporting the diagnosis of PSP and excluding other parkinsonian disorders, such as corticobasal degeneration. Genetic studies showed no abnormalities in genes currently known to be related to ALS or PSP.
(徳島大学機関リポジトリ): ● Metadata: 114373
(出版サイトへのリンク): ● Publication site (DOI): 10.1186/s12883-019-1402-7
(文献検索サイトへのリンク): ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 31319800; ● Search Scopus @ Elsevier (PMID): 31319800; ● Search Scopus @ Elsevier (DOI): 10.1186/s12883-019-1402-7

(徳島大学機関リポジトリ: 114373, DOI: 10.1186/s12883-019-1402-7, PubMed: 31319800) Wataru Sako, Takashi Abe, Shotaroh Haji, Nagahisa Murakami, Yusuke Osaki, Yuishin Izumi, Masafumi Harada and Ryuji Kaji :
A method for differential diagnosis of parkinsonian syndromes,
Acta Neurologica Scandinavica, Vol.140, No.3, 229-235, 2019.

(要約): Neurological findings are important for the differential diagnosis of Parkinson's disease (PD), multiple system atrophy with predominant parkinsonian features (MSA-P), and progressive supranuclear palsy (PSP). There is currently no fast and reliable method to distinguish these patients. To address this, we propose a novel approach to measure midbrain and pons size using a longitudinal "one line" method from the mid-sagittal view. Structural images were acquired from 101 subjects who underwent 3.0 T MRI (20 controls, 44 PD, 20 MSA, 12 PSP, and 5 corticobasal syndrome). We measured the middle cerebellar peduncle (MCP), superior cerebellar peduncle (SCP), midbrain, and pons. Brainstem size was measured by area or length of the longitudinal axis, which we named the "one line" method. We conducted intraclass correlation coefficients to assess the extent of agreement and consistency among raters, and receiver operating characteristic curves were used to determine diagnostic accuracy. Intraclass correlation coefficients (ICC) of MCP width were excellent in sagittal and axial sections while those of SCP width were moderate. There were also excellent ICCs between raters for "one line" method of the midbrain and pons, while areas showed good ICCs. "One line" method and area of the midbrain were better than SCP width for the differential diagnosis of PSP from MSA-P and PD. In contrast, there was no clearly superior measurement for differentially diagnosing MSA-P. The "one line" method was comparable with area for inter-rater agreement and diagnostic accuracy even though this was a simple and fast way.
(キーワード): Aged / Diagnosis, Differential / Female / Humans / Magnetic Resonance Imaging / Male / Mesencephalon / Middle Aged / Multiple System Atrophy / Parkinsonian Disorders / Pons / Supranuclear Palsy, Progressive
(出版サイトへのリンク): ● Publication site (DOI): 10.1111/ane.13136
(文献検索サイトへのリンク): ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 31225648; ● Summary page in Scopus @ Elsevier: 2-s2.0-85067842485

(DOI: 10.1111/ane.13136, PubMed: 31225648, Elsevier: Scopus) Wataru Sako, Takashi Abe, Yuishin Izumi, Masafumi Harada and Ryuji Kaji :
Deterministic-tractography-based approach for diagnosis and disease monitoring of amyotrophic lateral sclerosis,
Clinical Neurology and Neurosurgery, Vol.181, 73-75, 2019.

(要約): Upper and lower motor neuron signs are required for the diagnosis of amyotrophic lateral sclerosis. The detection of upper motor neuron signs is key for the diagnosis, as quite a few patients with amyotrophic lateral sclerosis lack upper motor neuron signs during the course of disease. This study sought to investigate whether deterministic tractography of the corticospinal tract, reflecting upper motor neuron signs, could be a surrogate biomarker for amyotrophic lateral sclerosis. Fifteen patients with amyotrophic lateral sclerosis and ten controls underwent imaging on a 3.0 T MRI. The corticospinal tract was reconstructed using deterministic tractography, and the track number was calculated. We analyzed the differences between the groups and the relationship between the track number and disease severity, disease duration, progression rate or upper motor neuron signs. A reduction in the track number of the corticospinal tract was found in amyotrophic lateral sclerosis compared with controls (Student's t test, P = 0.008). The sensitivity and specificity were 0.67 and 0.9, respectively. The track number correlated with disease severity alone (r = 0.71, P = 0.003), and significantly associated with upper motor neuron signs (P = 0.004). These findings suggest that the deterministic-tractography-based approach is a potential biomarker for the diagnosis and disease monitoring of amyotrophic lateral sclerosis.
(出版サイトへのリンク): ● Publication site (DOI): 10.1016/j.clineuro.2019.04.015
(文献検索サイトへのリンク): ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 31009854; ● Summary page in Scopus @ Elsevier: 2-s2.0-85064459749

(DOI: 10.1016/j.clineuro.2019.04.015, PubMed: 31009854, Elsevier: Scopus) Nagahisa Murakami, Wataru Sako, Shotaroh Haji, Takahiro Furukawa, Yoichi Otomi, Hideki Otsuka, Yuishin Izumi, Masafumi Harada and Ryuji Kaji :
Potential Utility of 123I-MIBG Scintigraphy as a Predictor of Falls in Parkinson's Disease,
Frontiers in Neurology, Vol.10, 376, 2019.

(要約): Falls are associated with poor prognosis in patients with Parkinson's disease (PD). Although several factors related to falls were reported in patients with PD, objective predictors of falls are not identified. We aimed to determine whether I-meta-iodobenzylguanidine (MIBG) cardiac scintigraphy could be a useful biomarker to predict falls. Forty-five patients with PD were enrolled in this study. These subjects were followed up more than 5 years after MIBG scintigraphy and were divided into two groups: one with decreased uptake of MIBG and the other without decreased uptake of MIBG. The cut-off value for the delayed heart-to-mediastinum ratio was 1.8. Kaplan-Meier analysis and a log-rank test were performed to test the predictive power of MIBG cardiac scintigraphy for falls. Univariate analysis was selected because we did not have appropriate data for adjustment, such as motor and cognitive assessment. The group with decreased uptake of MIBG had a significantly higher incidence of falls than that without decreased uptake of MIBG ( = 0.022, log-rank test). Although the limitations of this study were lack of several key factors including motor and cognitive assessment, MIBG cardiac scintigraphy may be used to predict falls in patients with PD.
(徳島大学機関リポジトリ): ● Metadata: 114903
(出版サイトへのリンク): ● Publication site (DOI): 10.3389/fneur.2019.00376
(文献検索サイトへのリンク): ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 31031701; ● Summary page in Scopus @ Elsevier: 2-s2.0-85067834785

(徳島大学機関リポジトリ: 114903, DOI: 10.3389/fneur.2019.00376, PubMed: 31031701, Elsevier: Scopus) Yamamoto Yuki, Nobuaki Yamamoto, Yasuhisa Kanematsu, Masaaki Korai, Kenji Shimada, Yuishin Izumi and Yasushi Takagi :
The Claw Sign: An angiographic Predictor of Recanalization After Mechanical Thrombectomy for Cerebral Large Vessel Occlusion.,
Journal of Stroke & Cerebrovascular Diseases, Vol.28, No.6, 1555-1560, 2019.

(要約): Mechanical thrombectomy undoubtedly improves functional outcomes for patients with acute ischemic stroke. Although we have observed occlusion sites that protrude proximally into the vessel on angiography, termed the "claw sign," we have been unable to state its clinical significance. In this study, we aimed to determine whether the presence of a claw sign was related to recanalization success after mechanical thrombectomy. We retrospectively included 73 consecutive patients treated for acute cerebral large vessel occlusion by mechanical thrombectomy between January 2014 and December 2017. The angiographic claw sign was defined as a thrombus that protruded proximally by more than half the diameter of the parent artery. Claw sign positivity, clinical and etiological features, and outcomes were compared between groups with and without recanalization. The claw sign was observed in 29 of 73 (40%) patients and was positive significantly more frequently in those with recanalization (50.0%) than in those without recanalization (5.9%) (P < .01). By multivariate analysis, the claw sign was the only pretreatment parameter to predict successful recanalization (odds ratio, 12.50; 95% confidence interval, 1.50-103.00; P = .019). The presence of the claw sign might predict successful recanalization in patients undergoing mechanical thrombectomy for large vessel occlusion.
(キーワード): Aged / Aged, 80 and over / Angiography, Digital Subtraction / Cerebral Angiography / Cerebral Arteries / Cerebrovascular Circulation / Constriction, Pathologic / Female / Humans / Intracranial Thrombosis / Male / Middle Aged / Predictive Value of Tests / Retrospective Studies / Thrombectomy / Thrombolytic Therapy / Treatment Outcome / Vascular Patency
(徳島大学機関リポジトリ): ● Metadata: 114639
(出版サイトへのリンク): ● Publication site (DOI): 10.1016/j.jstrokecerebrovasdis.2019.03.007
(文献検索サイトへのリンク): ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 30930237; ● Search Scopus @ Elsevier (PMID): 30930237; ● Search Scopus @ Elsevier (DOI): 10.1016/j.jstrokecerebrovasdis.2019.03.007

(徳島大学機関リポジトリ: 114639, DOI: 10.1016/j.jstrokecerebrovasdis.2019.03.007, PubMed: 30930237) Wataru Sako, Takashi Abe, T Furukawa, R Oki, Shotaroh Haji, Nagahisa Murakami, Yuishin Izumi, Masafumi Harada and Ryuji Kaji :
Differences in the intra-cerebellar connections and graph theoretical measures between Parkinson's disease and multiple system atrophy,
Journal of the Neurological Sciences, Vol.400, 129-134, 2019.

(要約): Parkinson's disease (PD) does not present with motor symptoms until dopaminergic neuronal loss exceeds 50%. This might indicate that a network-level compensatory mechanism involving surviving regions in PD acts to reduce brain abnormalities. In contrast, there is no evidence of a compensatory mechanism in multiple system atrophy (MSA). We hypothesized that a comparison of these two diseases would help to identify compensatory effects in PD. We recruited 23 patients with PD, 11 patients with MSA, and 11 controls that showed an aging brain but no neurological deficits. All subjects underwent resting state functional magnetic resonance imaging (fMRI). Regions of interest were defined according to the motor network related to the basal ganglia and cerebellum. Network-level analyses were performed. Network-based statistical analyses revealed that functional connectivity in PD brains was reduced between cerebellar lobules IX on both sides and vermis X, as compared with MSA brains. Transitivity was reduced in MSA as compared with controls. We demonstrated that a part of the intra-cerebellar connectivity was reduced in PD, and that network segregation was reduced in MSA. However, there was no evidence of compensatory effects in PD.
(キーワード): Aged / Aged, 80 and over / Cerebellum / Female / Humans / Magnetic Resonance Imaging / Male / Middle Aged / Multiple System Atrophy / Nerve Net / Parkinson Disease
(出版サイトへのリンク): ● Publication site (DOI): 10.1016/j.jns.2019.03.022
(文献検索サイトへのリンク): ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 30928779; ● Summary page in Scopus @ Elsevier: 2-s2.0-85063409926

(DOI: 10.1016/j.jns.2019.03.022, PubMed: 30928779, Elsevier: Scopus) Hiroyuki Nodera, Y Osaki, Hiroki Yamazaki, A Mori, Yuishin Izumi and Ryuji Kaji :
Deep learning for waveform identification of resting needle electromyography signals,
Clinical Neurophysiology, Vol.130, No.5, 617-623, 2019.

(要約): Given the recent advent in machine learning and artificial intelligence on medical data analysis, we hypothesized that the deep learning algorithm can classify resting needle electromyography (n-EMG) discharges. Six clinically observed resting n-EMG signals were used as a dataset. The data were converted to Mel-spectrogram. Data augmentation was then applied to the training data. Deep learning algorithms were applied to assess the accuracies of correct classification, with or without the use of pre-trained weights for deep-learning networks. While the original data yielded the accuracy up to 0.86 on the test dataset, data-augmentation up to 200,000 training images showed significant increase in the accuracy to 1.0. The use of pre-trained weights (fine tuning) showed greater accuracy than "training from scratch". Resting n-EMG signals were successfully classified by deep-learning algorithm, especially with the use of data augmentation and transfer learning techniques. Computer-aided signal identification of clinical n-EMG testing might be possible by deep-learning algorithms.
(キーワード): Algorithms / Deep Learning / Electromyography / Humans / Muscle, Skeletal / Neural Networks, Computer
(出版サイトへのリンク): ● Publication site (DOI): 10.1016/j.clinph.2019.01.024
(文献検索サイトへのリンク): ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 30870796; ● Summary page in Scopus @ Elsevier: 2-s2.0-85062625222

(DOI: 10.1016/j.clinph.2019.01.024, PubMed: 30870796, Elsevier: Scopus) Fumiko Nakazeki, Itaru Tsuge, Takahiro Horie, Keiko Imamura, Kayoko Tsukita, Akitsu Hotta, Osamu Baba, Yasuhide Kuwabara, Tomohiro Nishino, Tetsushi Nakao, Masataka Nishiga, Hitoo Nishi, Yasuhiro Nakashima, Yuya Ide, Satoshi Koyama, Masahiro Kimura, Shuhei Tsuji, Motoko Naitoh, Shigehiko Suzuki, Yuishin Izumi, Toshitaka Kawarai, Ryuji Kaji, Takeshi Kimura, Haruhisa Inoue and Koh Ono :
MiR-33a is a therapeutic target in SPG4-related hereditary spastic paraplegia human neurons,
Clinical Science, Vol.133, No.4, 583-595, 2019.

(要約): Recent reports, including ours, have indicated that microRNA (miR)-33 located within the intron of sterol regulatory element binding protein (SREBP) 2 controls cholesterol homeostasis and can be a potential therapeutic target for the treatment of atherosclerosis. Here, we show that , which encodes a microtubule-severing protein called SPASTIN, was a novel target gene of in human. Actually, the miR-33 binding site in the 3'-UTR is conserved not in mice but in mid to large mammals, and it is impossible to clarify the role of on in mice. We demonstrated that inhibition of , a major form of in human neurons, via locked nucleic acid (LNA)-anti-miR ameliorated the pathological phenotype in hereditary spastic paraplegia (HSP)-SPG4 patient induced pluripotent stem cell (iPSC)-derived cortical neurons. Thus, miR-33a can be a potential therapeutic target for the treatment of HSP-SPG4.
(キーワード): 3' Untranslated Regions / Binding Sites / Cells, Cultured / Gene Expression Regulation / Genetic Therapy / Humans / 人工多能性幹細胞 (induced pluripotent stem cells) / MicroRNAs / Neural Stem Cells / Neurites / Neurogenesis / Oligonucleotides / Phenotype / Spastic Paraplegia, Hereditary / Spastin
(徳島大学機関リポジトリ): ● Metadata: 115067
(出版サイトへのリンク): ● Publication site (DOI): 10.1042/CS20180980
(文献検索サイトへのリンク): ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 30777884; ● Summary page in Scopus @ Elsevier: 2-s2.0-85062006049

(徳島大学機関リポジトリ: 115067, DOI: 10.1042/CS20180980, PubMed: 30777884, Elsevier: Scopus) Nobuaki Yamamoto, Yuki Yamamoto, Masaaki Korai, Kenji Shimada, Yasuhisa Kanematsu, Yuishin Izumi, Junichiro Satomi, Yasushi Takagi and Ryuji Kaji :
Simultaneous approach to tandem occlusion in acute ischemic stroke patients: Percutaneous Transluminal Angioplasty (PTA) using push wire of stent retriever,
Journal of Neuroendovascular Therapy, Vol.13, No.6, 257-261, 2019.

(出版サイトへのリンク): ● Publication site (DOI): 10.5797/jnet.cr.2018-0108
(文献検索サイトへのリンク): ● CiNii @ 国立情報学研究所 (CRID): 1390001288147947776; ● Search Scopus @ Elsevier (DOI): 10.5797/jnet.cr.2018-0108

(DOI: 10.5797/jnet.cr.2018-0108, CiNii: 1390001288147947776) T Matsubara, M Oda, T Takahashi, C Watanabe, Y Tachiyama, H Morino, H Kawakami, Ryuji Kaji, H Maruyama, S Murayama and Yuishin Izumi :
Amyotrophic lateral sclerosis of long clinical course clinically presenting with progressive muscular atrophy,
Neuropathology, Vol.39, No.1, 47-53, 2019.

(要約): Amyotrophic lateral sclerosis (ALS) primarily affects upper and lower motor neurons. Phosphorylated trans-activation response DNA-binding protein of 43 kDa (TDP-43) inclusion bodies are reportedly a pathological hallmark of sporadic ALS. Here, we present an atypical case of sporadic ALS that progressed very slowly, persisted for 19 years, and clinically appeared to only affect the lower motor neurons; however, upper motor neuron degeneration was detected at autopsy. Furthermore, no inclusion bodies positive for phosphorylated TDP-43, ubiquitin, fused in sarcoma, or superoxide dismutase-1 were detected in the central nervous system. We performed exome-sequencing data analysis but found no genetic disorders. This was therefore an unusual case of lower motor neuron-predominant ALS without TDP-43 pathology or known gene-disease associations. We also reviewed autopsied ALS cases that progressed slowly and had no phosphorylated TDP-43 or ubiquitin-positive inclusions and present the clinicopathological features of such cases. Based on these results, there may be a sporadic ALS subgroup that progresses slowly and shows no accumulation of phosphorylated TDP-43.
(キーワード): Amyotrophic Lateral Sclerosis / DNA-Binding Proteins / Disease Progression / Female / Humans / Inclusion Bodies / Middle Aged / Muscular Atrophy, Spinal
(徳島大学機関リポジトリ): ● Metadata: 113068
(出版サイトへのリンク): ● Publication site (DOI): 10.1111/neup.12523
(文献検索サイトへのリンク): ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 30511354; ● Search Scopus @ Elsevier (PMID): 30511354; ● Search Scopus @ Elsevier (DOI): 10.1111/neup.12523

(徳島大学機関リポジトリ: 113068, DOI: 10.1111/neup.12523, PubMed: 30511354) Hiroyuki Nodera, Kazuki Sogawa, Naoko Takamatsu, Shuji Hashiguchi, Miho Saito, Atsuko Mori, Yusuke Osaki, Yuishin Izumi and Ryuji Kaji :
Texture analysis of sonographic muscle images can distinguish myopathic conditions.,
The Journal of Medical Investigation : JMI, Vol.66, No.3,4, 237-247, 2019.

(要約): Given the recent technological advent of muscle ultrasound (US), classification of various myopathic conditions could be possible, especially by mathematical analysis of muscular fine structure called texture analysis. We prospectively enrolled patients with three neuromuscular conditions and their lower leg US images were quantitatively analyzed by texture analysis and machine learning methodology in the following subjects : Inclusion body myositis (IBM) [N=11] ; myotonic dystrophy type 1 (DM1) [N=19] ; polymyositis/dermatomyositis (PM-DM) [N=21]. Although three-group analysis achieved up to 58.8% accuracy, two-group analysis of IBM plus PM-DM versus DM1 showed 78.4% accuracy. Despite the small number of subjects, texture analysis of muscle US followed by machine learning might be expected to be useful in identifying myopathic conditions. J. Med. Invest. 66 : 237-240, August, 2019.
(キーワード): Adult / Aged / Aged, 80 and over / Dermatomyositis / Female / Humans / Machine Learning / Male / Middle Aged / Muscle, Skeletal / Myositis, Inclusion Body / Myotonic Dystrophy / Prospective Studies / Ultrasonography
(徳島大学機関リポジトリ): ● Metadata: 114035
(出版サイトへのリンク): ● Publication site (DOI): 10.2152/jmi.66.237
(文献検索サイトへのリンク): ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 31656281; ● Summary page in Scopus @ Elsevier: 2-s2.0-85074149880

(徳島大学機関リポジトリ: 114035, DOI: 10.2152/jmi.66.237, PubMed: 31656281, Elsevier: Scopus) Hiroyuki Nodera, Y Osaki, Hiroki Yamazaki, A Mori, Yuishin Izumi and Ryuji Kaji :
Classification of needle-EMG resting potentials by machine learning,
Muscle & Nerve, Vol.59, No.2, 224-229, 2019.

(要約): The diagnostic importance of audio signal characteristics in needle electromyography (EMG) is well established. Given the recent advent of audio-sound identification by artificial intelligence, we hypothesized that the extraction of characteristic resting EMG signals and application of machine learning algorithms could help classify various EMG discharges. Data files of 6 classes of resting EMG signals were divided into 2-s segments. Extraction of characteristic features (384 and 4,367 features each) was used to classify the 6 types of discharges using machine learning algorithms. Across 841 audio files, the best overall accuracy of 90.4% was observed for the smaller feature set. Among the feature classes, mel-frequency cepstral coefficients (MFCC)-related features were useful in correct classification. We showed that needle EMG resting signals were satisfactorily classifiable by the combination of feature extraction and machine learning, and this can be applied to clinical settings. Muscle Nerve 59:224-228, 2019.
(キーワード): Electromyography / Evoked Potentials, Motor / Female / Fourier Analysis / Humans / Linear Models / Machine Learning / Male / Muscle, Skeletal / Muscular Diseases / Needles / Rest / Signal Processing, Computer-Assisted
(出版サイトへのリンク): ● Publication site (DOI): 10.1002/mus.26363
(文献検索サイトへのリンク): ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 30353953; ● Summary page in Scopus @ Elsevier: 2-s2.0-85058702574

(DOI: 10.1002/mus.26363, PubMed: 30353953, Elsevier: Scopus) Yuishin Izumi, Ryosuke Miyamoto, Koji Fujita, Yuki Yamamoto, Hirotsugu Yamada, Tomoyasu Matsubara, Yuki Unai, Ai Tsukamoto, Naoko Takamatsu, Hiroyuki Nodera, Shinya Hayashi, Masaya Oda, Atsuko Mori, Yoshihiko Nishida, Shunsuke Watanabe, Hirohisa Ogawa, Hisanori Uehara, Shigeo Murayama, Masataka Sata and Ryuji Kaji :
Distinct Incidence of Takotsubo Syndrome Between Amyotrophic Lateral Sclerosis and Synucleinopathies: A Cohort Study.,
Frontiers in Neurology, Vol.9, 1099, 2018.

(要約): Takotsubo syndrome (TTS) is an acute cardiac syndrome characterized by regional left ventricular dysfunction with a peculiar circumferential pattern, which typically results in apical ballooning. Evidence indicates a pivotal role of catecholamines in TTS, and researchers have discussed multiple hypotheses on the etiology, including multivessel coronary spasm, myocardial stunning, excessive transient ventricular afterload, and cardiac sympathetic overactivity with local noradrenaline spillover. Although central nervous system disorders, such as stroke and epilepsy, are known to trigger TTS, the incidence and clinical features of TTS in neurodegenerative disorders are poorly understood. Here, we retrospectively examined TTS cases in a single-center cohort composed of 250 patients with amyotrophic lateral sclerosis (ALS) and 870 patients with synucleinopathies [582 patients with Parkinson's disease (PD), 125 patients with dementia with Lewy bodies (DLB), and 163 patients with multiple system atrophy (MSA)] and identified 4 (1.6%, including 2 women) cases with ALS and no cases with synucleinopathies. Two ALS patients underwent autopsy and the pathological findings were compatible with the chronological changes identified in catecholamine-induced cardiomyopathy. A literature review identified 16 TTS cases with ALS, 1 case each with PD and DLB, and no cases with MSA. When current and previous TTS cases with ALS were concatenated: 55% (11/20) were female; 35% (7/20) had a bulbar-onset and 45% (9/20) had a limb-onset; the mean age of TTS onset was 63.3 ± 9.0 years and the mean interval time from ALS onset to TTS development was 4.9 ± 3.0 years; no (0/16) patients developed TTS within 12 months after ALS onset; 50% (10/20) underwent artificial ventilations; the mortality was 17% (3/18); and most cases had precipitating factors, and TTS development was associated with gastrostomy, tracheostomy, or infections in 45% (9/20) of the patients. This study demonstrated that ALS is a considerable predisposing factor of TTS and that synucleinopathies rarely cause TTS. The distinct TTS incidence between ALS and synucleinopathies may be due to cardiac sympathetic overactivity in ALS and may also be affected by cardiac sympathetic denervation in synucleinopathies. Moreover, the etiology of TTS in ALS may be reasonably explained by the two-hit theory.
(徳島大学機関リポジトリ): ● Metadata: 113228
(出版サイトへのリンク): ● Publication site (DOI): 10.3389/fneur.2018.01099
(文献検索サイトへのリンク): ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 30619056; ● Search Scopus @ Elsevier (PMID): 30619056; ● Search Scopus @ Elsevier (DOI): 10.3389/fneur.2018.01099

(徳島大学機関リポジトリ: 113228, DOI: 10.3389/fneur.2018.01099, PubMed: 30619056) 村上永尚, 佐光亘, 土師正太郎, 古川貴大, 宇山直人, 音見暢一, 和泉唯信, 原田雅史, 梶龍兒 :
123I-MIBG心筋シンチグラフィーとパーキンソン病患者における転倒リスクの評価,
臨床神経学, Vol.58, No.Suppl., S213, 2018年. Yuishin Izumi, Hiroyuki Morino, Ryosuke Miyamoto, Yukiko Matsuda, Ryosuke Ohsawa, Takashi Kurashige, Yoshimitsu Shimatani, Ryuji Kaji and Hideshi Kawakami :
Compound heterozygote mutations in the SIGMAR1 gene in an oldest-old patient with amyotrophic lateral sclerosis.,
Geriatrics & Gerontology International, Vol.18, No.10, 1519-1520, 2018.

(出版サイトへのリンク): ● Publication site (DOI): 10.1111/ggi.13506
(文献検索サイトへのリンク): ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 30311446; ● Search Scopus @ Elsevier (PMID): 30311446; ● Search Scopus @ Elsevier (DOI): 10.1111/ggi.13506

(DOI: 10.1111/ggi.13506, PubMed: 30311446) Shunya Nakane, Koji Fujita, Shingo Azuma, Ryo Urushihara, Masaki Kamada, Masafumi Harada, Yuishin Izumi and Ryuji Kaji :
CSF cystatin C and diffusion tensor imaging parameters as biomarkers of upper motor neuron degeneration in amyotrophic lateral sclerosis.,
Clinical Neurology and Neurosurgery, Vol.172, 162-168, 2018.

(要約): MR findings indicated that decreased anisotropy, increased diffusion, and increased myo-inositol/creatine ratio were also significantly correlated with UMN involvement in patients with ALS. The CSF cystatin C levels were significantly lower in patients with ALS than in the other three groups. The reduction of CSF cystatin C levels was significantly correlated with clinical UMN involvement (r = -0.505, p = 0.023).
(キーワード): Adult / Aged / Aged, 80 and over / Amyotrophic Lateral Sclerosis / Biomarkers / Cystatin C / Diffusion Magnetic Resonance Imaging / Diffusion Tensor Imaging / Female / Humans / Magnetic Resonance Spectroscopy / Male / Middle Aged / Motor Neurons / Multimodal Imaging / Nerve Degeneration
(出版サイトへのリンク): ● Publication site (DOI): 10.1016/j.clineuro.2018.07.008
(文献検索サイトへのリンク): ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 30016754; ● Search Scopus @ Elsevier (PMID): 30016754; ● Search Scopus @ Elsevier (DOI): 10.1016/j.clineuro.2018.07.008

(DOI: 10.1016/j.clineuro.2018.07.008, PubMed: 30016754) Naoko Matsui, Hiroyuki Nodera, D Kuzume, N Iwasa, Y Unai, W Sakai, Y Miyazaki, H Yamazaki, Yusuke Osaki, A Mori, T Furukawa, A Tsukamoto-Miyashiro, Y Shimatani, M Yamasaki, Yuishin Izumi, S Kusunoki, Kokichi Arisawa and Ryuji Kaji :
Guillan-Barre syndrome in local area in Japan, 2006-2015: an epidemiological and clinical study of 108 patients,
European Journal of Neurology, Vol.25, No.5, 718-724, 2018.

(要約): Many epidemiological studies of Guillain-Barré syndrome (GBS) and Fisher syndrome (FS) have been conducted in Europe and America. In contrast, epidemiological studies are rare in Asia where the GBS subtypes differ from those in Western countries. This study was undertaken to clarify the incidence of GBS and FS in a local area in Japan as well as their seasonal trends. Seventy-one GBS and 37 FS patients were recorded from 2006 to 2015 in an area of approximately 1.5 million inhabitants in Japan. The incidence, seasonal trends and clinical features of GBS and FS were examined. The incidence rate of GBS was 0.42 cases per 100 000 person-years and that of FS was 0.22 cases per 100 000 person-years. The incidence of GBS increased with age and FS affected predominantly patients aged from 45 to 64 years old. There was some seasonal clustering of acute motor axonal neuropathy (AMAN) and FS in spring and summer, but it was not significant. AMAN and FS patients had a high frequency of preceding infection (AMAN, 68% gastrointestinal infection; FS, 65% upper respiratory infection). Antecedent respiratory infection was significantly associated with FS as an outcome. Serum antibodies to ganglioside GM1 were detected in 71% of AMAN patients and antibodies to GQ1b were detected in 81% of FS patients. Our study offers evidence of a lower incidence of GBS and a higher incidence of FS in a local area in Japan than in Western countries.
(出版サイトへのリンク): ● Publication site (DOI): 10.1111/ene.13569
(文献検索サイトへのリンク): ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 29337417; ● Summary page in Scopus @ Elsevier: 2-s2.0-85042582939

(DOI: 10.1111/ene.13569, PubMed: 29337417, Elsevier: Scopus) 山上圭, 古川貴大, 大崎裕亮, 村上永尚, 中道一生, 西條政幸, 松井尚子, 和泉唯信, 梶龍兒 :
未治療のサルコイドーシスに合併した進行性多巣性白質脳症,
神経感染症, Vol.23, No.1, 151-156, 2018年. Toshitaka Kawarai, Ryosuke Miyamoto, Eiji Nakagawa, Reiko Koichihara, Takashi Sakamoto, Hideo Mure, Ryoma Morigaki, Hidetaka Koizumi, Ryosuke Oki, Celeste Montecchiani, Carlo Caltagirone, Antonio Orlacchio, Ayako Hattori, Hideaki Mashimo, Yuishin Izumi, Takahiro Mezaki, Satoko Kumada, Makoto Taniguchi, Fusako Yokochi, Shinji Saitoh, Satoshi Goto and Ryuji Kaji :
Phenotype variability and allelic heterogeneity in KMT2B-Associated disease.,
Parkinsonism & Related Disorders, 2018.

(要約): We further demonstrate the allelic heterogeneity and phenotypic variations of KMT2B-associated disease. Haploinsufficiency is one of molecular pathomechanisms underlying the disease. Cardinal clinical features include combined dystonia accompanying mild psychomotor disability. Cerebellum would be affected in KMT2B-associated disease.
(キーワード): Dystonia
(出版サイトへのリンク): ● Publication site (DOI): 10.1016/j.parkreldis.2018.03.022
(文献検索サイトへのリンク): ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 29653907; ● Search Scopus @ Elsevier (PMID): 29653907; ● Search Scopus @ Elsevier (DOI): 10.1016/j.parkreldis.2018.03.022

(DOI: 10.1016/j.parkreldis.2018.03.022, PubMed: 29653907) Nobuaki Yamamoto, Junichiro Satomi, Yuki Yamamoto, Kenji Shono, Yasuhisa Kanematsu, Yuishin Izumi, Shinji Nagahiro and Ryuji Kaji :
Risk Factors of Neurological Deterioration in Patients with Cerebral Infarction due to Large Artery Atherosclerosis,
Journal of Stroke & Cerebrovascular Diseases, Vol.26, No.8, 1801-1806, 2017.

(要約): In some patients with acute ischemic stroke, neurological deterioration (ND) is observed, and it is difficult to predict at the time of admission. Especially in some patients with large-artery atherosclerosis (LAA), aggressive medical treatments and surgical interventions might be helpful to prevent ND. Therefore, we investigated factors associated with ND in patients with LAA. We studied patients with LAA who were admitted to our hospital. We divided them into 2 groups with (group 1) and without deterioration (group 2), and evaluated their medical records, risk factors, and radiological findings, such as number of diffusion-positive lesion and degree of stenosis. Our study population consisted of 171 patients; 71 (41.5%) did and 100 (58.5%) did not suffer deterioration. By univariate analysis, blood pressure (BP), heart rate, National Institutes of Health Stroke Scale (NIHSS) score, number of diffusion-positive lesion, count of red blood cell, high-density lipoprotein, and degree of stenosis differed significantly between the 2 groups. By multivariate analysis, systolic BP (170 mm Hg, odds ratio: 7.20, P <.001) was associated with ND. Furthermore, number of diffusion-weighted image (DWI)-positive lesion (8), degree of stenosis (>80.0%), and NIHSS score (4) were also independent factors associated with ND. High BP, severity of neurological deficit at the time of admission, and radiological findings, such as degree of stenosis and number of DWI-positive lesion, are independently associated with ND in patients with LAA.
(出版サイトへのリンク): ● Publication site (DOI): 10.1016/j.jstrokecerebrovasdis.2017.04.011
(文献検索サイトへのリンク): ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 28476508; ● Search Scopus @ Elsevier (PMID): 28476508; ● Search Scopus @ Elsevier (DOI): 10.1016/j.jstrokecerebrovasdis.2017.04.011

(DOI: 10.1016/j.jstrokecerebrovasdis.2017.04.011, PubMed: 28476508) Toshitaka Kawarai, Celeste Montecchiani, Ryosuke Miyamoto, Fabrizio Gaudiello, Carlo Caltagirone, Yuishin Izumi, Ryuji Kaji and Antonio Orlacchio :
Spastic paraplegia type 4: A novel SPAST splice site donor mutation and expansion of the phenotype variability.,
Journal of the Neurological Sciences, Vol.380, 92-97, 2017.

(要約): Mutations in SPG4/SPAST are the most frequent molecular aetiology in the autosomal dominant form of hereditary spastic paraplegia (HSP). Loss-of-function and haploinsufficiency in SPAST have been demonstrated and the pure form of spastic paraplegia is a main clinical manifestation. This study is to explore the novel SPAST splice site donor variant, c.1004+3A>C, in seven patients from two families, one from Italy and the other from Japan. Exon 6 is skipped out by the variant, leading to a premature termination of translation, p.Gly290Trpfs*5. Measurement of SPAST transcripts in lymphocytes demonstrated a reduction through nonsense-mediated mRNA decay (NMD). Intra- and inter-familial phenotypic variations were observed, including age-at-onset, severity of spasticity, and scoliosis. Our study demonstrated further evidence of allelic heterogeneity in SPG4, dosage effects through NMD, and broad clinical features of the SPAST mutation.
(出版サイトへのリンク): ● Publication site (DOI): 10.1016/j.jns.2017.07.011
(文献検索サイトへのリンク): ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 28870597; ● Search Scopus @ Elsevier (PMID): 28870597; ● Search Scopus @ Elsevier (DOI): 10.1016/j.jns.2017.07.011

(DOI: 10.1016/j.jns.2017.07.011, PubMed: 28870597) Wataru Sako, Nagahisa Murakami, Yuishin Izumi and Ryuji Kaji :
Usefulness of the superior cerebellar peduncle for differential diagnosis of progressive supranuclear palsy: A meta-analysis.,
Journal of the Neurological Sciences, Vol.378, 153-157, 2017.

(要約): Previous studies have reported the usefulness of superior cerebellar peduncle (SCP) abnormalities in diagnosing progressive supranuclear palsy. However, the results of these studies were heterogeneous. In the present meta-analysis, we aimed to establish more robust evidence of SCP abnormalities in progressive supranuclear palsy, and to determine the cause of the previously reported heterogeneity. We identified six studies on SCP size and three studies on apparent diffusion coefficient. Key features of each study were extracted and standardized differences in size and apparent diffusion coefficient values were calculated. There was some heterogeneity in terms of the reduction in SCP size in patients with progressive supranuclear palsy compared to those with Parkinson's disease. Moreover, age and Hoehn-Yahr stage negatively correlated with standardized mean difference in SCP size between patients with progressive supranuclear palsy and Parkinson's disease. There was homogenous agreement that the SCP was smaller in patients with progressive supranuclear palsy compared to those with multiple system atrophy. Finally, in terms of apparent diffusion coefficient, there was no significant difference between patients with progressive supranuclear palsy, Parkinson's disease, or multiple system atrophy. Together, these findings suggest that SCP size, when corrected for age and disease severity, could be a diagnostic tool for progressive supranuclear palsy.
(出版サイトへのリンク): ● Publication site (DOI): 10.1016/j.jns.2017.05.005
(文献検索サイトへのリンク): ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 28566154; ● Summary page in Scopus @ Elsevier: 2-s2.0-85019145607

(DOI: 10.1016/j.jns.2017.05.005, PubMed: 28566154, Elsevier: Scopus) Nagahisa Murakami, Keiko Imamura, Yuishin Izumi, Naohiro Egawa, Kayoko Tsukita, Takako Enami, Takuya Yamamoto, Toshitaka Kawarai, Ryuji Kaji and Haruhisa Inoue :
Proteasome impairment in neural cells derived from HMSN-P patient iPSCs.,
Molecular Brain, Vol.10, No.1, 2017.

(要約): Hereditary motor and sensory neuropathy with proximal dominant involvement (HMSN-P) is caused by a heterozygous mutation (P285L) in Tropomyosin-receptor kinase Fused Gene (TFG), histopathologically characterized by progressive spinal motor neuron loss with TFG cytosolic aggregates. Although the TFG protein, found as a type of fusion oncoprotein, is known to facilitate vesicle transport from endoplasmic reticulum (ER) to Golgi apparatus at ER exit site, it is unclear how mutant TFG causes motor neuron degeneration. Here we generated induced pluripotent stem cells (iPSCs) from HMSN-P patients, and differentiated the iPSCs into neural cells with spinal motor neurons (iPS-MNs). We found that HMSN-P patient iPS-MNs exhibited ubiquitin proteasome system (UPS) impairment, and HMSN-P patient iPS-MNs were vulnerable to UPS inhibitory stress. Gene correction of the mutation in TFG using the CRISPR-Cas9 system reverted the cellular phenotypes of HMSN-P patient iPS-MNs. Collectively, these results suggest that our cellular model with defects in cellular integrity including UPS impairments may lead to identification of pathomechanisms and a therapeutic target for HMSN-P.
(徳島大学機関リポジトリ): ● Metadata: 110142
(出版サイトへのリンク): ● Publication site (DOI): 10.1186/s13041-017-0286-y
(文献検索サイトへのリンク): ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 28196470; ● Search Scopus @ Elsevier (PMID): 28196470; ● Search Scopus @ Elsevier (DOI): 10.1186/s13041-017-0286-y

(徳島大学機関リポジトリ: 110142, DOI: 10.1186/s13041-017-0286-y, PubMed: 28196470) Wataru Sako, Takashi Abe, Yuishin Izumi, Hiroki Yamazaki, Naoko Matsui, Masafumi Harada and Ryuji Kaji :
Spontaneous brain activity in the sensorimotor cortex in amyotrophic lateral sclerosis can be negatively regulated by corticospinal fiber integrity.,
Neurological Sciences, Vol.38, No.5, 755-760, 2017.

(要約): Previous studies failed to detect reduced value of the amplitude of low frequency fluctuation (ALFF) derived from resting state functional magnetic resonance imaging in the primary motor cortex in amyotrophic lateral sclerosis (ALS) though primary motor cortex was mainly affected with ALS. We aimed to investigate the cause of masking the abnormality in the primary motor cortex in ALS and usefulness of ALFF for differential diagnosis among diseases showing muscle weakness. We enrolled ten patients with ALS and eleven disease controls showing muscle weakness. Voxel-wise analysis revealed that significant reduction of ALFF value was present in the right sensorimotor cortex in ALS. There was a significant negative correlation between ALFF value in the right sensorimotor cortex and fractional anisotropy (FA) value in the posterior limbs of the internal capsule (PLIC). For a diagnostic tool, the area under receiver operating characteristic curve improved if the ALS patients with disease duration >1 year were excluded. The present findings raised the possibility of usefulness of ALFF value in the sensorimotor cortex for differential diagnosis of ALS, and supported the notion that adjustment for FA value in the PLIC could improve accuracy.
(出版サイトへのリンク): ● Publication site (DOI): 10.1007/s10072-017-2831-y
(文献検索サイトへのリンク): ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 28150100; ● Search Scopus @ Elsevier (PMID): 28150100; ● Search Scopus @ Elsevier (DOI): 10.1007/s10072-017-2831-y

(DOI: 10.1007/s10072-017-2831-y, PubMed: 28150100) 山本雄貴, 松井尚子, 平松有, 宮﨑由道, 野寺裕之, 和泉唯信, 高嶋博, 梶龍兒 :
シャルコー・マリー・トウース病に類似した三頭酵素欠損症の成人例,
臨床神経学, Vol.57, No.2, 82-87, 2017年.

(要約): A 45-year-old man presented to us due to slowly progressive muscle weakness and sensory disturbances in his lower limbs since his 40's. He reported multiple episodes of exercise-induced severe muscle fatigue and brown urine in his childhood, which disappeared by age 20. A nerve conduction study showed peripheral axonal neuropathy and then Charcot-Marie-Tooth disease (CMT) was considered as the most likely diagnosis; however, exome sequencing failed to identify a mutation in the known genes of CMTs. Since age 55, he recurrently developed severe rhabdomyolysis that required hospitalization. On suspicion of lipid metabolism disorders, we performed serum acylcarnitine analysis, and which revealed mildly elevated long-chain fatty acids. We re-examined variants obtained via exome sequencing and found a mutation in HADHB. Mitochondrial trifunctional protein (MTP) deficiency is a rare autosomal recessive disorder of mitochondrial fatty acid beta-oxidation caused by HADHA or HADHB mutation. It can be a life-threatening multiorgan disorder with early infantile onset, but it can also present in childhood or adolescence with peripheral neuropathy and recurrent rhabdomyolysis. This case of adult-diagnosed MTP deficiency was characterized by slowly progressive peripheral neuropathy masquerading CMT in addition to muscular symptoms. MTP deficiency should be considered in patients with the combination of peripheral neuropathy and recurrent rhabdomyolysis.
(キーワード): Biomarkers / Cardiomyopathies / カルニチン (carnitine) / Charcot-Marie-Tooth Disease / Diagnosis, Differential / Disease Progression / Genetic Testing / Humans / Lipid Metabolism, Inborn Errors / 男性 (male) / Middle Aged / Mitochondrial Myopathies / Mitochondrial Trifunctional Protein / Mitochondrial Trifunctional Protein, beta Subunit / Mutation / Nervous System Diseases / Peripheral Nervous System Diseases / Recurrence / Rhabdomyolysis
(出版サイトへのリンク): ● Publication site (DOI): 10.5692/clinicalneurol.cn-000976
(文献検索サイトへのリンク): ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 28132977; ● Summary page in Scopus @ Elsevier: 2-s2.0-85017414707

(DOI: 10.5692/clinicalneurol.cn-000976, PubMed: 28132977, Elsevier: Scopus) 古川貴大, 松井尚子, 田中惠子, 和泉唯信, 梶龍兒 :
耳下腺炎を契機に発症し，脳病変のみを反復したシェーグレン症候群合併視神経脊髄炎関連疾患の一例,
臨床神経学, Vol.57, No.2, 77-81, 2017年.

(要約): A 33 year-old woman presented with intentional incontinence, motor aphasia, supranuclear gaze palsy, and spasticity after parotitis. Brain magnetic resonance images (MRI) showed abnormal signaling in long corticospinal tract involving internal capsules and cerebral peduncles, middle cerebellar peduncle, and frontal subcortical white matter lesions. She had a long history of dry eye and mouth. Immunoserological study showed that she was positive for anti-SS-A, aquaporin 4 (AQP4), and AQP5 antibodies. She clinically showed not only Sjögren's syndrome but also neuromyelitis optica spectrum disorder (NMOSD) without optic neuritis or myelitis. She responded to steroid followed by plasma exchange dramatically. Thereafter, the relapse of brain lesion was once detected while tapering of steroid, but her symptoms have been stable for several years after administration of immunosuppressant. This case suggested that salivary gland inflammation might be associated with the pathogenesis of NMOSD.
(キーワード): Adult / Autoantibodies / Biomarkers / 脳 (brain) / 女性 (female) / Humans / Immunosuppressive Agents / 磁気共鳴映像法 (magnetic resonance imaging) / Methylprednisolone / Neuromyelitis Optica / Parotitis / Plasma Exchange / Pulse Therapy, Drug / Recurrence / シェーグレン症候群 (Sjögren's syndrome) / Tacrolimus / Treatment Outcome
(出版サイトへのリンク): ● Publication site (DOI): 10.5692/clinicalneurol.cn-000924
(文献検索サイトへのリンク): ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 28132975; ● Summary page in Scopus @ Elsevier: 2-s2.0-85017467963

(DOI: 10.5692/clinicalneurol.cn-000924, PubMed: 28132975, Elsevier: Scopus) Kenji Shono, Junichiro Satomi, Yoshiteru Tada, Yasuhisa Kanematsu, Nobuaki Yamamoto, Yuishin Izumi, Ryuji Kaji, Masafumi Harada and Shinji Nagahiro :
Optimal Timing of Diffusion-Weighted Imaging to Avoid False-Negative Findings in Patients With Transient Ischemic Attack,
Stroke, Vol.48, No.7, 1990-1992, 2017.

(要約): We aimed to investigate the optimal timing of diffusion-weighted imaging (DWI) in patients with transient ischemic attack (TIA). Seventy-three consecutive patients with TIA underwent DWI on admission (initial DWI) and at 24 hours after admission (second DWI). Patients were divided into 2 groups based on initial DWI findings in relation to the second examination: false negative (group 1) and other (group 2). The probability of initial false-negative findings was determined for each hour from TIA onset to initial DWI. Multivariate analysis was used to evaluate the independent risk factors associated with false-negative findings on initial DWI. Of the 73 patients examined (56 men; mean age, 68 years), 9 (12%) were categorized into group 1. The latency from TIA onset to initial DWI was 1.7±0.6 hours for group 1 (range, 1-2.8 hours) and 3.3±2.6 hours for group 2 (range, 35 minutes to 12 hours). The probability of false-negative findings on initial DWI decreased in a time-dependent manner (25%, 21%, and 7% for 1, 2, and 3 hours, respectively), and no false-negative findings were observed on initial DWI performed at >3 hours from symptom onset. Short latency (2 hours) from TIA onset to initial DWI was an independent risk factor related to false-negative findings (odds ratio, 13.11; 95% confidence interval, 1.07-161.38; P=0.045). If the duration between TIA symptom onset and initial DWI is <2 hours, a repeat examination should be performed to minimize the risk of false-positive findings.
(キーワード): Aged / Aged, 80 and over / Diffusion Magnetic Resonance Imaging / False Negative Reactions / Female / Humans / Ischemic Attack, Transient / Male / Middle Aged / Retrospective Studies / Risk Factors / Sensitivity and Specificity / Time Factors
(出版サイトへのリンク): ● Publication site (DOI): 10.1161/STROKEAHA.117.014576
(文献検索サイトへのリンク): ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 28536173; ● Summary page in Scopus @ Elsevier: 2-s2.0-85019546161

(DOI: 10.1161/STROKEAHA.117.014576, PubMed: 28536173, Elsevier: Scopus) 山下雄也, 山崎博輝, 松井尚子, 宮﨑由道, 塚本愛, 西野一三, 鈴木重明, 西田善彦, 野寺裕之, 和泉唯信, 梶龍兒 :
複合的免疫治療が奏功した抗SRP抗体陽性壊死性ミオパチーの1例,
日本内科学会雑誌, Vol.105, No.8, 1443-1450, 2016年.

(要約): 症例は60歳代，男性．全身倦怠感，四肢脱力を主訴に受診．筋炎としステロイド単独で治療を開始したが，反応性は乏しく，筋病理・抗体検査にて抗SRP抗体陽性壊死性ミオパチー(anti-signal recognition particle immune-mediated necrotizing myopathy:anti-SRP iNM)と診断し，免疫グロブリン大量静注療法，免疫抑制薬を併用したところ，症状の改善を得た．積極的に自己抗体の測定を行うことが壊死性ミオパチー(immune-mediated necrotizing myopathy:iNM)の早期診断・治療に重要である．
(キーワード): 抗SRP抗体 / 壊死性ミオパチー / 免疫グロブリン大量静注療法 / 免疫抑制薬
(出版サイトへのリンク): ● Publication site (DOI): 10.2169/naika.105.1443
(文献検索サイトへのリンク): ● CiNii @ 国立情報学研究所 (CRID): 1390282681425704832; ● Search Scopus @ Elsevier (DOI): 10.2169/naika.105.1443

(DOI: 10.2169/naika.105.1443, CiNii: 1390282681425704832) Wataru Sako, Takashi Abe, Nagahisa Murakami, Yoshimichi Miyazaki, Yuishin Izumi, Masafumi Harada and Ryuji Kaji :
Imaging-based differential diagnosis between multiple system atrophy and Parkinson's disease.,
Journal of the Neurological Sciences, Vol.368, 104-108, 2016.

(要約): There are many tools for differentiating between multiple system atrophy with predominant parkinsonian features (MSA-P) and Parkinson's disease (PD). These include middle cerebellar peduncle (MCP) width, apparent diffusion coefficient (ADC) value of the putamen and cerebellum, and (123)I-metaiodobenzylguanidine (MIBG) myocardial scintigraphy images. We aimed to directly compare the above-mentioned methods, and to determine the optimal tool for differential diagnosis. Eleven patients with MSA-P and 36 patients with PD were enrolled. Of these, 7 patients with MSA-P and 14 patients with PD were chosen as background-matched subjects. We measured MCP width, ADC value of the putamen and cerebellum, and MIBG myocardial scintigraphy images. Area under curve (AUC) of receiver operating characteristic (ROC) was assessed to compare the above-mentioned methods. MCP width and ADC value of the putamen may be helpful for differentiating between MSA-P and PD relative to other methods in background-matched patients (MCP, AUC=0.95; putamen ADC, AUC=0.88; cerebellar ADC, AUC=0.70; MIBG, AUC=0.78). Similar AUCs were seen in all patients with different backgrounds. Our findings suggested that MCP width and ADC value of the putamen could be superior to ADC value of the cerebellum and MIBG uptake for differentiating between MSA-P and PD.
(キーワード): Area Under Curve / 小脳 (cerebellum) / Diagnosis, Differential / Female / Humans / Male / Middle Aged / Middle Cerebellar Peduncle / Multiple System Atrophy / パーキンソン病 (Parkinson's disease) / Putamen / ROC Curve
(出版サイトへのリンク): ● Publication site (DOI): 10.1016/j.jns.2016.06.061
(文献検索サイトへのリンク): ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 27538610; ● Summary page in Scopus @ Elsevier: 2-s2.0-84978114190

(DOI: 10.1016/j.jns.2016.06.061, PubMed: 27538610, Elsevier: Scopus) Yusuke Osaki, Koji Fujita, Takashi Abe, Masafumi Harada, Yuishin Izumi and Ryuji Kaji :
Mystery Case: Parkinsonism in a diabetic uremic patient.,
Neurology, Vol.86, No.22, e225-7, 2016.

(出版サイトへのリンク): ● Publication site (DOI): 10.1212/WNL.0000000000002713
(文献検索サイトへのリンク): ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 27242385; ● Summary page in Scopus @ Elsevier: 2-s2.0-84973577883

(DOI: 10.1212/WNL.0000000000002713, PubMed: 27242385, Elsevier: Scopus) Toshitaka Kawarai, Kanto Yamasaki, Atsuko Mori, Naoko Takamatsu, Yusuke Osaki, Chimeglkham Banzrai, Chimeglkham Banzrai, Ryosuke Miyamoto, Ryosuke Oki, Lucia Pedace, Antonio Orlacchio, Hiroyuki Nodera, Akihiro Hashiguchi, Yujiro Higuchi, Hiroshi Takashima, Yoshihiko Nishida, Yuishin Izumi and Ryuji Kaji :
MFN2 transcripts escaping from nonsense-mediated mRNA decay pathway cause Charcot-Marie-Tooth disease type 2A2,
Journal of Neurology, Neurosurgery, and Psychiatry, 2016.

(キーワード): Charcot-Marie-Tooth disease / MItofusin / nonsense-mediated mRNA decay
(出版サイトへのリンク): ● Publication site (DOI): 10.1136/jnnp-2015-312646
(文献検索サイトへのリンク): ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 27154191; ● Search Scopus @ Elsevier (PMID): 27154191; ● Search Scopus @ Elsevier (DOI): 10.1136/jnnp-2015-312646

(DOI: 10.1136/jnnp-2015-312646, PubMed: 27154191) Kaji Seiji, Toshitaka Kawarai, Miyamoto Ryosuke, Hiroyuki Nodera, Pedace Lucia, Orlacchio Antonio, Yuishin Izumi, Takahashi Ryosuke and Ryuji Kaji :
Late-onset spastic paraplegia type 10 (SPG10) family presenting with bulbar symptoms and fasciculations mimicking amyotrophic lateral sclerosis,
Journal of the Neurological Sciences, Vol.364, 45-49, 2016.

(要約): Pathogenic mutations in the KIF5A-SPG10 gene, encoding the kinesin HC5A, can be associated with autosomal dominant hereditary spastic paraplegia (ADHSP). It accounts for about 10% of the complicated forms of ADHSP. Peripheral neuropathy, distal upper limb amyotrophy, and cognitive decline are the most common additional clinical features. We examined a 66-year-old Japanese woman manifesting gait disturbance and spastic dysarthria for 6years with positive family history. She showed evidence of upper and lower motor neuron involvement and fasciculations, thus mimicking amyotrophic lateral sclerosis (ALS). Genetic analysis revealed a heterozygous variant in KIF5A (c.484C>T, p.Arg162Trp) in 2 symptomatic members. The mutation was also identified in 4 asymptomatic members, including 2 elderly members aged over 78years. Electromyography in the 2 symptomatic members revealed evidence of lower motor neuron involvement and fasciculation potentials in distal muscles. This report describes the first known Asian family with a KIF5A mutation and broadens the clinical and electrophysiological spectrum associated with KIF5A-SPG10 mutations. Given that our cases showed pseudobulbar palsy, fasciculation and altered penetrance, KIF5A-SPG10 might well be considered as a differential diagnosis of sporadic ALS.
(キーワード): SPG10 / ALS / fasciculation
(出版サイトへのリンク): ● Publication site (DOI): 10.1016/j.jns.2016.03.001
(文献検索サイトへのリンク): ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 27084214; ● Summary page in Scopus @ Elsevier: 2-s2.0-84960442703

(DOI: 10.1016/j.jns.2016.03.001, PubMed: 27084214, Elsevier: Scopus) Wataru Sako, Nagahisa Murakami, Yuishin Izumi and Ryuji Kaji :
The difference of apparent diffusion coefficient in the middle cerebellar peduncle among parkinsonian syndromes: Evidence from a meta-analysis.,
Journal of the Neurological Sciences, Vol.363, 90-94, 2016.

(要約): The measurement of middle cerebellar peduncle (MCP) width allows for differential diagnosis between Parkinson's disease (PD) and multiple system atrophy with predominant parkinsonian features (MSA-P). However, it remains controversial whether apparent diffusion coefficient (ADC) value in the MCP of MSA-P is elevated or not. In the present study, we aimed to assess the usefulness of ADC value in the MCP for differential diagnosis between PD and MSA-P. An on-line literature search yielded 5 eligible studies. We expressed between-group difference of ADC value as the standardized mean difference (SMD). The proportion of variation due to heterogeneity was computed and expressed as I(2). ADC in the MCP of MSA-P was significantly increased compared with PD with heterogeneous studies (P=0.0007, I(2)=81%). A meta-regression analysis of MSA-P was conducted for "UPDRS III", and revealed a significant correlation between UPDRS III and SMD (P=0.01). Our meta-regression analysis has clarified the contribution of severity of MSA-P to heterogeneity of the included studies for ADC in the MCP. This finding raised the possibility that ADC in the MCP depended on severity of MSA-P, and less severe patients with MSA-P should be mainly enrolled in future study to assess the ability for differential diagnostic tool.
(出版サイトへのリンク): ● Publication site (DOI): 10.1016/j.jns.2016.02.034
(文献検索サイトへのリンク): ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 27000228; ● Search Scopus @ Elsevier (PMID): 27000228; ● Search Scopus @ Elsevier (DOI): 10.1016/j.jns.2016.02.034

(DOI: 10.1016/j.jns.2016.02.034, PubMed: 27000228) Waka Sakai, Naoko Matsui, Mitsuyo Ishida, Takahiro Furukawa, Yoshimichi Miyazaki, Koji Fujita, Ryosuke Miyamoto, Nobuaki Yamamoto, Wataru Sako, Kenta Sato, Kazuya Kondo, Yoshihiko Nishida, Takao Mitsui, Yuishin Izumi and Ryuji Kaji :
Late-onset myasthenia gravis is predisposed to become generalized in the elderly,
eNeurologicalSci, Vol.2, 17-20, 2016.

(徳島大学機関リポジトリ): ● Metadata: 110923
(出版サイトへのリンク): ● Publication site (DOI): 10.1016/j.ensci.2016.02.004
(文献検索サイトへのリンク): ● Search Scopus @ Elsevier (DOI): 10.1016/j.ensci.2016.02.004

(徳島大学機関リポジトリ: 110923, DOI: 10.1016/j.ensci.2016.02.004) Wataru Sako, Takashi Abe, Yuishin Izumi, Masafumi Harada and Ryuji Kaji :
Fractional anisotropy in the supplementary motor area correlates with disease duration and severity of amyotrophic lateral sclerosis.,
Neurological Sciences, Vol.37, No.4, 573-577, 2016.

(要約): Amyotrophic lateral sclerosis (ALS) is progressive and fatal neurodegenerative disorder with upper and lower motor neuron signs. There are no biomarkers to track disease progression. To address this issue, we investigated regions in which fractional anisotropy (FA) values derived from diffusion weighted images correlated with both disease severity and duration in ALS patients. Fourteen patients with ALS were enrolled in this study. Voxel-based analysis revealed volume of interests (VOIs) showing significant correlation. Finally, Spearman rank correlation coefficient was assessed between FA value in each VOI and disease severity or duration. In the VOI of left supplementary motor area (SMA), FA value significantly correlated with disease severity and duration both (disease severity, rho = 0.59, p = 0.025; disease duration, rho = -0.69, p = 0.006). The present finding suggested the possibility that the abnormality in motor-related region including SMA could be a candidate for a biomarker to track disease progression.
(出版サイトへのリンク): ● Publication site (DOI): 10.1007/s10072-016-2487-z
(文献検索サイトへのリンク): ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 26809951; ● Summary page in Scopus @ Elsevier: 2-s2.0-84955300415

(DOI: 10.1007/s10072-016-2487-z, PubMed: 26809951, Elsevier: Scopus) Yoshimitsu Shimatani, Yuta Nakano, Naoko Tsuyama, Shigeo Murayama, Ryosuke Oki, Ryosuke Miyamoto, Nagahisa Murakami, Koji Fujita, Syunsuke Watanabe, Hisanori Uehara, Takashi Abe, Hiroyuki Nodera, Toshitaka Kawarai, Yuishin Izumi and Ryuji Kaji :
Extranodal NK/T-cell lymphoma, nasal type, manifesting as rapidly progressive dementia without any mass or enhancing brain lesion.,
Neuropathology, Vol.36, No.5, 456-463, 2016.

(要約): Among the many potential etiologies for rapidly progressive dementia (RPD), primary central nervous system extranodal NK/T-cell lymphoma, nasal-type (ENKL) is a rare entity. We present the first reported case of autopsy-proven RPD due to ENKL without any mass or enhancing lesion of the brain. A 54-year-old immunocompetent man presented with RPD, myoclonus and ataxia. The mini-mental state examination (MMSE) score was 22/30. His brain MRI revealed progressive brain atrophy without gadolinium enhancement or mass lesion. Five months after the initial evaluation, cognitive impairment further worsened with an MMSE score of 3/30. At the advanced stage, lumbar MRI showed swollen cauda equina with gadolinium enhancement. The number of Epstein-Barr virus (EBV) DNA in cerebrospinal fluid had gradually increased. Twelve months after onset, the patient died of respiratory failure. Pathological findings revealed that lymphoma cells had diffusely invaded the meninges, parenchyma of the brain, spinal cord and cauda equina. Cells were positive for CD3, CD56 and EBV-encoded small RNAs and negative for CD20. No evidence of malignancy was identified in the visceral organs. This report indicates that ENKL should be recognized as one of the rare causes of RPD. Early testing for EBV-DNA in cerebrospinal fluid and imaging of cauda equina would be useful diagnostic tools.
(キーワード): Brain / Brain Neoplasms / Cauda Equina / Dementia / Disease Progression / Humans / Immunocompetence / Lymphoma, Extranodal NK-T-Cell / Male / Middle Aged / Spinal Cord
(出版サイトへのリンク): ● Publication site (DOI): 10.1111/neup.12285
(文献検索サイトへのリンク): ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 26773724; ● Summary page in Scopus @ Elsevier: 2-s2.0-84989259948

(DOI: 10.1111/neup.12285, PubMed: 26773724, Elsevier: Scopus) Wataru Sako, Takashi Abe, Yuishin Izumi, Masafumi Harada and Ryuji Kaji :
The ratio of N-acetyl aspartate to glutamate correlates with disease duration of amyotrophic lateral sclerosis,
Journal of Clinical Neuroscience, Vol.27, 110-113, 2016.

(要約): Glutamate (Glu)-induced excitotoxicity has been implicated in the neuronal loss of amyotrophic lateral sclerosis. To test the hypothesis that Glu in the primary motor cortex contributes to disease severity and/or duration, the Glu level was investigated using MR spectroscopy. Seventeen patients with amyotrophic lateral sclerosis were diagnosed according to the El Escorial criteria for suspected, possible, probable or definite amyotrophic lateral sclerosis, and enrolled in this cross-sectional study. We measured metabolite concentrations, including N-acetyl aspartate (NAA), creatine, choline, inositol, Glu and glutamine, and performed partial correlation between each metabolite concentration or NAA/Glu ratio and disease severity or duration using age as a covariate. Considering our hypothesis that Glu is associated with neuronal cell death in amyotrophic lateral sclerosis, we investigated the ratio of NAA to Glu, and found a significant correlation between NAA/Glu and disease duration (r=-0.574, p=0.02). The "suspected" amyotrophic lateral sclerosis patients showed the same tendency as possible, probable and definite amyotrophic lateral sclerosis patients in regard to correlation of NAA/Glu ratio with disease duration. The other metabolites showed no significant correlation. Our findings suggested that glutamatergic neurons are less vulnerable compared to other neurons and this may be because inhibitory receptors are mainly located presynaptically, which supports the notion of Glu-induced excitotoxicity.
(出版サイトへのリンク): ● Publication site (DOI): 10.1016/j.jocn.2015.08.044
(文献検索サイトへのリンク): ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 26765768; ● Summary page in Scopus @ Elsevier: 2-s2.0-84952673779

(DOI: 10.1016/j.jocn.2015.08.044, PubMed: 26765768, Elsevier: Scopus) Shunya Nakane, Kaori Furutani, Masafumi Harada, Ryo Urushihara, Naoko Matsui, Yuishin Izumi and Ryuji Kaji :
Multimodal analysis based on high-field magnetic resonance and motor evoked potentials: A case report of multiple sclerosis,
Clinical & Experimental Neuroimmunology, Vol.8, No.1, 43-46, 2016.

(出版サイトへのリンク): ● Publication site (DOI): 10.1111/cen3.12352
(文献検索サイトへのリンク): ● Search Scopus @ Elsevier (DOI): 10.1111/cen3.12352

(DOI: 10.1111/cen3.12352) Masaki Kamata, Shunya Nakane, Naoko Matsui, Osamu Higuchi, Sakai Waka, Koji Fujita, Yuishin Izumi, Hidenori Matsuo and Ryuji Kaji :
Ocular myasthenia gravis with anti-muscle-specific tyrosine kinase antibodies: Two new cases and a systematic literature review,
Clinical & Experimental Neuroimmunology, Vol.7, No.2, 168-173, 2016.

(出版サイトへのリンク): ● Publication site (DOI): 10.1111/cen3.12296
(文献検索サイトへのリンク): ● Summary page in Scopus @ Elsevier: 2-s2.0-84961266632

(DOI: 10.1111/cen3.12296, Elsevier: Scopus) 山本伸昭, 和泉唯信, 山本雄貴, 垂髪祐樹, 梶龍兒, 里見淳一郎, 永廣信治 :
ASL1,
臨床神経学, Vol.56, No.3, 225, 2016年. 沖良祐, 内野彰子, 和泉唯信, 小川博久, 村山繁雄, 梶龍兒 :
約14年の経過でポストポリオ症候群が広範に進行した1剖検例,
臨床神経学, Vol.56, No.1, 12-16, 2016年.

(要約): 症例は死亡時74歳の男性である．小児期の急性灰白髄炎罹患後に左下肢麻痺が残存した．60歳頃より四肢筋力低下，72歳頃より呼吸機能障害・嚥下障害が進行し，発症約14年後に死亡した．神経病理学的には脊髄にポリオ後遺症と思われるplaque-like lesionのほか，脊髄全長にわたりグリオーシスを伴う前角細胞脱落を認めたが，Bunina小体やユビキチン・TDP43陽性封入体などamyotrophic lateral sclerosis(ALS)に特徴的とされる構造物は認めなかった．ポストポリオ症候群は稀に呼吸機能障害や嚥下障害が急速に進行して致死的となる場合があり，これらの病理所見はポストポリオ症候群による運動麻痺の進行と関連していると考えられた．
(出版サイトへのリンク): ● Publication site (DOI): 10.5692/clinicalneurol.cn-000761
(文献検索サイトへのリンク): ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 26616485; ● CiNii @ 国立情報学研究所 (CRID): 1390282680013781248; ● Summary page in Scopus @ Elsevier: 2-s2.0-84957620367

(DOI: 10.5692/clinicalneurol.cn-000761, PubMed: 26616485, CiNii: 1390282680013781248, Elsevier: Scopus) Hiroyuki Nodera, Naoko Takamatsu, Naoko Matsui, Atsuko Mori, Yuka Terasawa, Yoshimitsu Shimatani, Yusuke Osaki, Keiko Maruyama, Yuishin Izumi and Ryuji Kaji :
Intramuscular dissociation of echogenicity in the triceps surae characterizes sporadic inclusion body myositis,
European Journal of Neurology, Vol.23, No.3, 588-596, 2016.

(要約): Differential diagnosis of sporadic inclusion body myositis (s-IBM) and polymyositis (PM)/dermatomyositis (DM) is difficult and can affect proper disease management. Detection of heterogeneous muscular involvement in s-IBM by muscle sonography could be a unique diagnostic feature. Sonography of the lower leg and forearm was performed in patients with s-IBM, PM/DM and control subjects (n = 11 each). Echo intensities (EIs) of the adjacent muscles [medial head of the gastrocnemius versus soleus and the flexor digitorum profundus (FDP) versus flexor carpi ulnaris (FCU)] were scored by three blinded raters. The mean EIs of these muscles were compared using computer-assisted histogram analysis. Both evaluation methods showed high echoic signals in the gastrocnemius of patients with s-IBM. EIs were significantly different between the gastrocnemius and soleus in patients with s-IBM, but not in those with DM/PM and the controls. In the forearm, although the EI of the FDP was higher in the s-IBM group than in the other groups, the EI differences between the FDP and FCU did not differ significantly between disease groups. The difference in area under the curves to differentiate between s-IBM and DM/PM was greatest between the gastrocnemius-soleus EIs (0.843; P = 0.006). High echoic signals in the medial gastrocnemius compared with those of the soleus are suggestive of s-IBM over PM/DM.
(出版サイトへのリンク): ● Publication site (DOI): 10.1111/ene.12899
(文献検索サイトへのリンク): ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 26706399; ● Search Scopus @ Elsevier (PMID): 26706399; ● Search Scopus @ Elsevier (DOI): 10.1111/ene.12899

(DOI: 10.1111/ene.12899, PubMed: 26706399) Nobuaki Yamamoto, Junichiro Satomi, Yuishin Izumi, Yamamoto Yuki, Shinji Nagahiro and Ryuji Kaji :
Predictors of a favorable outcome after recanalization in patients with cerebral major vessel occlusion,
Journal of Stroke & Cerebrovascular Diseases, Vol.24, No.12, 2793-2799, 2015.

(要約): Although tissue plasminogen activator and endovascular treatment were reported to be useful for recanalization in patients with major vessel occlusion (MVO), the outcome in some patients with recanalization was unfavorable. We could detect prolongation of the ipsilateral posterior cerebral artery (PCA) to the ischemic side on magnetic resonance angiography in some patients (ipsilateral-PCA sign). We investigated the predictors including radiological findings for a favorable outcome after successful recanalization. We included 76 patients with MVO of the anterior circulation and documented recanalization by treatment. We divided our patients into 2 groups: group F (modified Rankin scale [mRS] score = 0-2) and group UF (mRS score = 3-6). We compared biomarkers between the groups. National Institutes of Health Stroke Scale (NIHSS) score before treatment in group F (8.5) was lower than that in group UF (16.0; P <.001). Sensitivity of the ipsilateral-PCA sign was commonly associated with group F (67.5% versus 19.4%, P <.001), and specificity of the sign was 80.6%. Absence of infarcts in the anterior cerebral artery (ACA) territory and ACA occlusion were also associated with a favorable outcome. In multivariate analysis, the ipsilateral-PCA sign and NIHSS score (≤ 10) were independent predictors of favorable outcome (odds ratio = 9.92, 95% confidence interval [CI] 2.71-36.23, P = .001; and odds ratio = 9.15, 95% CI 2.44-34.36, P = .001, respectively) The ipsilateral-PCA sign and low NIHSS score (≤ 10) were predictors of a favorable outcome in patients with MVO and documented recanalization by treatments.
(キーワード): magnetic resonance angiography / recanalization / endovascular recanalization / tissue-type plasminogen activator
(出版サイトへのリンク): ● Publication site (DOI): 10.1016/j.jstrokecerebrovasdis.2015.08.012
(文献検索サイトへのリンク): ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 26387040; ● Summary page in Scopus @ Elsevier: 2-s2.0-84949727124

(DOI: 10.1016/j.jstrokecerebrovasdis.2015.08.012, PubMed: 26387040, Elsevier: Scopus) Toshitaka Kawarai, Ryosuke Miyamoto, Atsuko Mori, Ryosuke Oki, Ai Tsukamoto-Miyashiro, Naoko Matsui, Yoshimichi Miyazaki, Antonio Orlacchio, Yuishin Izumi, Yoshihiko Nishida and Ryuji Kaji :
Late-onset spastic paraplegia: Aberrant SPG11 transcripts generated by a novel splice site donor mutation.,
Journal of the Neurological Sciences, Vol.359, No.1-2, 250-255, 2015.

(要約): We identified a novel homozygous mutation in the splice site donor (SSD) of intron 30 (c.5866+1G>A) in consanguineous Japanese SPG11 siblings showing late-onset spastic paraplegia using the whole-exome sequencing. Phenotypic variability was observed, including age-at-onset, dysarthria and pes cavus. Coding DNA sequencing revealed that the mutation affected the recognition of the constitutive SSD of intron 30, splicing upstream onto a nearby cryptic SSD in exon 30. The use of constitutive splice sites of intron 29 was confirmed by sequencing. The mutant transcripts are mostly subject to degradation by the nonsense-mediated mRNA decay system. SPG11 transcripts, escaping from the nonsense-mediated mRNA decay pathway, would generate a truncated protein (p.Tyr1900Phefs5X) containing the first 1899 amino acids and followed by 4 aberrant amino acids. This study showed a successful clinical application of whole-exome sequencing in spastic paraplegia and demonstrated a further evidence of allelic heterogeneity in SPG11. The confirmation of aberrant transcript by splice site mutation is a prerequisite for a more precise molecular diagnosis.
(出版サイトへのリンク): ● Publication site (DOI): 10.1016/j.jns.2015.10.045
(文献検索サイトへのリンク): ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 26671123; ● Search Scopus @ Elsevier (PMID): 26671123; ● Search Scopus @ Elsevier (DOI): 10.1016/j.jns.2015.10.045

(DOI: 10.1016/j.jns.2015.10.045, PubMed: 26671123) Tomokazu Nishikawa, Tetsuya Takahashi, Masahiro Nakamori, Naohisa Hosomi, Hirofumi Maruyama, Yoshimichi Miyazaki, Yuishin Izumi and Masayasu Matsumoto :
The identification of raft-derived tau-associated vesicles that are incorporated into immature tangles and paired helical filaments.,
Neuropathology and Applied Neurobiology, Vol.42, No.7, 639-653, 2015.

(要約): These observations suggest that clusters of raft-derived vesicles that resemble GVD bodies are substructures of pretangles other than PHFs. These tau kinase-bearing vesicles are likely involved in the modification of tau protein and in NFT formation. This article is protected by copyright. All rights reserved.
(徳島大学機関リポジトリ): ● Metadata: 115647
(出版サイトへのリンク): ● Publication site (DOI): 10.1111/nan.12288
(文献検索サイトへのリンク): ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 26501932; ● Summary page in Scopus @ Elsevier: 2-s2.0-84997674092

(徳島大学機関リポジトリ: 115647, DOI: 10.1111/nan.12288, PubMed: 26501932, Elsevier: Scopus) Ryosuke Miyamoto, Hiroyuki Sumikura, Toshiaki Takeuchi, Mitsuru Sanada, Koji Fujita, Toshitaka Kawarai, Hideo Mure, Ryoma Morigaki, Satoshi Goto, Shigeo Murayama, Yuishin Izumi and Ryuji Kaji :
Autopsy case of severe generalized dystonia and static ataxia with marked cerebellar atrophy.,
Neurology, Vol.85, No.17, 1522-1524, 2015.

(キーワード): Asphyxia / Atrophy / Autopsy / 脳 (brain) / Cerebellar Ataxia / 小脳 (cerebellum) / Dysphonia / Dystonic Disorders / Humans / 男性 (male) / Middle Aged / Prone Position
(出版サイトへのリンク): ● Publication site (DOI): 10.1212/WNL.0000000000002061
(文献検索サイトへのリンク): ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 26408497; ● Search Scopus @ Elsevier (PMID): 26408497; ● Search Scopus @ Elsevier (DOI): 10.1212/WNL.0000000000002061

(DOI: 10.1212/WNL.0000000000002061, PubMed: 26408497) Wataru Sako, Nagahisa Murakami, Yoshimichi Miyazaki, Takashi Abe, Masafumi Harada, Yuishin Izumi and Ryuji Kaji :
The effect of tremor onset on middle cerebellar peduncle of Parkinson's disease.,
Journal of the Neurological Sciences, Vol.358, No.1-2, 172-177, 2015.

(要約): The majority of studies of Parkinson's disease (PD) focused on basal ganglia initially; however, accumulating evidence suggests cerebellar involvement in pathophysiology. We aimed to investigate the effects of tremor onset on middle cerebellar peduncle (MCP) width of PD patients and of disease duration on differential diagnosis. We measured MCP width of 81 PD, 34 multiple system atrophy (MSA) and 16 normal controls, using MRI. A meta-analysis was performed including two previous and the present studies. We carried out correlation analysis between disease duration and MCP width separately in subgroup of PD with or without tremor onset. Receiver operating characteristic curves were analyzed. Our meta-analysis indicated that MCP width was significantly smaller in MSA relative to PD with homogeneous studies. There was significant correlation between disease duration and MCP width in PD without tremor onset. In contrast, there was no correlation observed in PD with tremor onset. Subclassification according to disease duration showed improved area under curve of PD vs. MSA with predominant parkinsonian features. MCP width could be a valuable tool for differential diagnosis. Our finding suggested that MCP was impaired in advanced stage of PD without tremor onset as part of the abnormality of the cerebellar system.
(出版サイトへのリンク): ● Publication site (DOI): 10.1016/j.jns.2015.08.1531
(文献検索サイトへのリンク): ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 26341153; ● Summary page in Scopus @ Elsevier: 2-s2.0-84956834073

(DOI: 10.1016/j.jns.2015.08.1531, PubMed: 26341153, Elsevier: Scopus) Takahiro Furukawa, Naoko Matsui, Koji Fujita, Hiroyuki Nodera, Fumitaka Shimizu, Katsuichi Miyamoto, Yukitoshi Takahashi, Takashi Kanda, Susumu Kusunoki, Yuishin Izumi and Ryuji Kaji :
CSF cytokine profile distinguishes multifocal motor neuropathy from progressive muscular atrophy.,
Neurology® Neuroimmunology & Neuroinflammation, Vol.2, No.5, e138, 2015.

(要約): The CSF cytokine profile of patients with MMN is distinct from that of patients with PMA and ALS. The similarity of the cytokine profiles between patients with PMA and ALS suggests that PMA shares common immunologic features with ALS in the CNS, even without clinical evidence of upper motor neuron involvement.
(徳島大学機関リポジトリ): ● Metadata: 109981
(出版サイトへのリンク): ● Publication site (DOI): 10.1212/NXI.0000000000000138
(文献検索サイトへのリンク): ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 26280014; ● Search Scopus @ Elsevier (PMID): 26280014; ● Search Scopus @ Elsevier (DOI): 10.1212/NXI.0000000000000138

(徳島大学機関リポジトリ: 109981, DOI: 10.1212/NXI.0000000000000138, PubMed: 26280014) Toshitaka Kawarai, Atsushi Tajima, Yukiko Kuroda, Naoki Saji, Antonio Orlacchio, Hideo Terasawa, Hirotaka Shimizu, Yasushi Kita, Yuishin Izumi, Takao Mitsui, Issei Imoto and Ryuji Kaji :
A homozygous mutation of VWA3B causes cerebellar ataxia with intellectual disability.,
Journal of Neurology, Neurosurgery, and Psychiatry, Vol.87, No.6, 656-662, 2015.

(要約): Mutated VWA3B was found to be likely associated with cerebellar degeneration with intellectual disability. Although a rare cause of cerebellar degeneration, these findings indicate a critical role for VWA3B in the apoptosis pathway in neuronal tissues.
(キーワード): cerebellar degeneration / ataxia / mutation / whole exome sequencing
(出版サイトへのリンク): ● Publication site (DOI): 10.1136/jnnp-2014-309828
(文献検索サイトへのリンク): ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 26157035; ● Summary page in Scopus @ Elsevier: 2-s2.0-84937596766

(DOI: 10.1136/jnnp-2014-309828, PubMed: 26157035, Elsevier: Scopus) Wataru Sako, Nagahisa Murakami, Yuishin Izumi and Ryuji Kaji :
Neurofilament light chain level in cerebrospinal fluid can differentiate Parkinson's disease from atypical parkinsonism: Evidence from a meta-analysis.,
Journal of the Neurological Sciences, Vol.352, No.1-2, 84-87, 2015.

(要約): A reliable test that facilitates the accurate diagnosis of Parkinson's and disorders will help with both, clinical management and therapeutic research. In this context, neurofilament light chain (NFL) is candidate for a biomarker in cerebrospinal fluid (CSF). A comprehensive literature search yielded 4 eligible studies. We expressed between-group difference of NFL concentration in CSF as the standardized mean difference. Four studies involved 166 Parkinson's disease (PD), 116 multiple system atrophy (MSA) and 73 progressive supranuclear palsy (PSP) patients. Patients with MSA showed higher concentration of NFL concentration in CSF than those with PD (standardized mean difference=1.60, P<0.0001). These studies were homogeneous (P=0.17). NFL in CSF in PSP was significantly elevated relative to PD with homogeneous studies (standardized mean difference=2.04, P<0.0001; P=0.99). The present meta-analysis suggested that NFL concentration in CSF in MSA and PSP was significantly increased relative to PD, and that this could help us to separate PD from atypical parkinsonian syndromes.
(出版サイトへのリンク): ● Publication site (DOI): 10.1016/j.jns.2015.03.041
(文献検索サイトへのリンク): ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 25868897; ● Summary page in Scopus @ Elsevier: 2-s2.0-84928368241

(DOI: 10.1016/j.jns.2015.03.041, PubMed: 25868897, Elsevier: Scopus) Nobuaki Yamamoto, Junichiro Satomi, Masafumi Harada, Yuishin Izumi, Shinji Nagahiro and Ryuji Kaji :
Is the Susceptibility Vessel Sign on 3-Tesla Magnetic Resonance T2*-Weighted Imaging a Useful Tool to Predict Recanalization in Intravenous Tissue Plasminogen Activator?,
Clinical Neuroradiology, 2014.

(要約): The aim of this study was to investigate the independent factors associated with the absence of recanalization approximately 24 h after intravenous administration of tissue-type plasminogen activator (IV TPA). The previous studies have been conducted using 1.5-Tesla (T) magnetic resonance imaging (MRI). We studied whether the characteristics of 3-T MRI findings were useful to predict outcome and recanalization after IV tPA. Patients with internal carotid artery (ICA) or middle cerebral artery (MCA) (horizontal portion, M1; Sylvian portion, M2) occlusion and treated by IV tPA were enrolled. We studied whether the presence of susceptibility vessel sign (SVS) at M1 and low clot burden score on T2*-weighted imaging (T2*-CBS) on 3-T MRI were associated with the absence of recanalization. A total of 49 patients were enrolled (27 men; mean age, 73.9 years). MR angiography obtained approximately 24 h after IV tPA revealed recanalization in 21 (42.9 %) patients. Independent factors associated with the absence of recanalization included ICA or proximal M1 occlusion (odds ratio, 69.6; 95 % confidence interval, 5.05-958.8, p = 0.002). In this study, an independent factor associated with the absence of recanalization may be proximal occlusion of the cerebral arteries rather than SVS in the MCA or low T2*-CBS on 3-T MRI.
(出版サイトへのリンク): ● Publication site (DOI): 10.1007/s00062-014-0363-x
(文献検索サイトへのリンク): ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 25516146; ● Search Scopus @ Elsevier (PMID): 25516146; ● Search Scopus @ Elsevier (DOI): 10.1007/s00062-014-0363-x

(DOI: 10.1007/s00062-014-0363-x, PubMed: 25516146) Wataru Sako, Nagahisa Murakami, Yuishin Izumi and Ryuji Kaji :
Val66Met polymorphism of brain-derived neurotrophic factor is associated with idiopathic dystonia.,
Journal of Clinical Neuroscience, Vol.22, No.3, 575-577, 2014.

(要約): The Val66Met (G196A; rs6265) single nucleotide polymorphism of brain-derived neurotrophic factor (BDNF) affects morphology and neuronal activity, and is expected to be associated with central nervous system disorders. However, it remains controversial whether Val66Met polymorphism is a risk factor for idiopathic dystonia. We aimed to clarify the impact of BDNF polymorphism on idiopathic dystonia. A literature search of PubMed was carried out. A random-effects model was employed for the meta-analysis. A pooled odds ratio (OR) was calculated along with 95% confidence intervals (CI) to reflect the risk of idiopathic dystonia in each genotype (GG, AG, AA) or minor allele. The proportion of variation due to heterogeneity was computed and expressed as I(2). Five case-control studies, comprising a total sample size of 1804 subjects (784 idiopathic dystonia patients, 1020 normal controls), were included in this meta-analysis. AA genotype was significantly more frequent in patients with idiopathic dystonia (OR=1.47, 95% CI 1.09-1.99, p=0.01, four studies, n=1716). This finding was derived from homogeneous studies (p=0.97, I(2)=0%). Our meta-analysis has revealed a significant overall effect of the AA genotype on the development of idiopathic dystonia.
(出版サイトへのリンク): ● Publication site (DOI): 10.1016/j.jocn.2014.08.014
(文献検索サイトへのリンク): ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 25523127; ● Search Scopus @ Elsevier (PMID): 25523127; ● Search Scopus @ Elsevier (DOI): 10.1016/j.jocn.2014.08.014

(DOI: 10.1016/j.jocn.2014.08.014, PubMed: 25523127) Nobuaki Yamamoto, Junichiro Satomi, Yoshiteru Tada, Masafumi Harada, Yuishin Izumi, Shinji Nagahiro and Ryuji Kaji :
The two-1 layered susceptibility vessel sign on 3-tesla T2*-weighted imaging is a predictive biomarker of stroke subtype,
Stroke, Vol.46, No.1, 269-271, 2014.

(要約): A susceptibility vessel sign (SVS) on 1.5-tesla (T)-T2*-weighted images may predict cardioembolism. It has also been detected in patients with large artery atherosclerosis. In patients with major vessel occlusion, the SVS was comprised 2 layers on 3T-T2*-weighted images. We assessed the efficacy of 2-layered SVS on 3T-T2*-weighted imaging scans for predicting cardioembolism. Our study included 132 patients who had ischemic stroke within the preceding 24 hours and presented with internal carotid artery or middle cerebral artery occlusion because of cardioembolism or large artery atherosclerosis. We compared 2-layered SVS and SVS on 3T-T2*-weighted imaging scans for their sensitivity, specificity, and diagnostic odds ratio for predicting cardioembolism. We enrolled 132 patients (72 men; mean age, 74.5 years); of these, 63 (47.7%) were presented with cardioembolism. Although the sensitivity of SVS and 2-layered SVS for cardioembolism and large artery atherosclerosis was not statistically different (74.6% and 58.0%, respectively), the sensitivity of 2-layered SVS was significantly higher in patients with cardioembolism (42.9%) than those with large artery atherosclerosis (2.9%; P<0.001). The specificity and diagnostic odds ratio for 2-layered SVS for cardioembolism were 97.1% and 25.1; for SVS they were 42.0% and 2.1, respectively. The specificity of 2-layered SVS for cardioembolism was high. It may be useful for predicting cardioembolism and for the management of patients with acute ischemic stroke.
(キーワード): imaging biomarker / 3-tesla magnetic resonance imaging / T2*-weighted imaging / susceptibility vessel sign / two-layered susceptibility vessel sign
(出版サイトへのリンク): ● Publication site (DOI): 10.1161/STROKEAHA.114.007227
(文献検索サイトへのリンク): ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 25477219; ● Summary page in Scopus @ Elsevier: 2-s2.0-84920283485

(DOI: 10.1161/STROKEAHA.114.007227, PubMed: 25477219, Elsevier: Scopus) 山本伸昭, 里見淳一郎, 寺澤由佳, 曽我部周, 中島公平, 佐藤泰仁, 板東一彦, 阿川昌仁, 浅野登, 本藤秀樹, 和泉唯信, 梶龍兒, 永廣信治 :
脳梗塞発症後早期からの抗血小板薬使用が予後に及ぼす影響の検討,
脳卒中, Vol.36, No.6, 419-424, 2014年.

(出版サイトへのリンク): ● Publication site (DOI): 10.3995/jstroke.36.419
(文献検索サイトへのリンク): ● CiNii @ 国立情報学研究所 (CRID): 1390282679616796928; ● Search Scopus @ Elsevier (DOI): 10.3995/jstroke.36.419

(DOI: 10.3995/jstroke.36.419, CiNii: 1390282679616796928) Nobuaki Yamamoto, Yuka Terasawa, Junichiro Satomi, Sakai Waka, Masafumi Harada, Yuishin Izumi, Shinji Nagahiro and Ryuji Kaji :
Predictors of neurologic deterioration in patients with small-vessel occlusion and infarcts in the territory of perforating arteries,
Journal of Stroke & Cerebrovascular Diseases, Vol.23, No.8, 2151-2155, 2014.

(要約): It is difficult to predict neurologic deterioration in patients with small-vessel occlusion (SVO), that is, small infarcts in the territory of cerebral perforating arteries. We reviewed 110 patients with SVO who were admitted to our hospital. We divided them into groups with (n = 32, group 1) and without deterioration (n = 78, group 2) and evaluated their medical records, risk factors, magnetic resonance imaging findings, grade of periventricular hyperintensity (PVH), maximum diameter of the infarct area, and the number of slices showing infarcts on diffusion-weighted images (DWI). Our study population consisted of 110 patients (71 males and 39 females; mean age 69.2 years): 32 (29%) did and 78 (71%) did not suffer deterioration. By univariate analysis, the age, current smoking, history of stroke, maximum diameter of the infarcted area, number of DWI slices with infarcts, frequency of PVH, and PVH grade based on Fazekas classification differed significantly between the 2 groups. By multivariate analysis, conventional risk factors other than PVH and history of stroke were not associated with neurologic deterioration (PVH grade ≥ 2 versus PVH grade ≤ 1, odds ratio 6.72, P = .006; with stroke versus without stroke, odds ratio .21, P = .049). We also found that higher the PVH grade, the worse the National Institutes of Health Stroke Scale score at the time of discharge. PVH and without history of stroke are independently associated with neurologic deterioration in patients with SVO.
(キーワード): Aged / Aged, 80 and over / Brain Infarction / Cerebral Arteries / Cerebral Ventricles / Diffusion Magnetic Resonance Imaging / Female / Humans / Intracranial Thrombosis / 磁気共鳴映像法 (magnetic resonance imaging) / Male / Middle Aged / Odds Ratio / Predictive Value of Tests / Risk Factors / 喫煙 (smoking) / PVH grade / neurologic deterioration / predictors / small vessel occlusion
(徳島大学機関リポジトリ): ● Metadata: 106332
(出版サイトへのリンク): ● Publication site (DOI): 10.1016/j.jstrokecerebrovasdis.2014.04.011
(文献検索サイトへのリンク): ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 25088163; ● Summary page in Scopus @ Elsevier: 2-s2.0-84908209055

(徳島大学機関リポジトリ: 106332, DOI: 10.1016/j.jstrokecerebrovasdis.2014.04.011, PubMed: 25088163, Elsevier: Scopus) Takahiro Furukawa, Naoko Matsui, Koji Fujita, Ai Miyashiro, Hiroyuki Nodera, Yuishin Izumi, Fumitaka Shimizu, Katsuichi Miyamoto, Yukitoshi Takahashi, Takashi Kanda, Susumu Kusunoki and Ryuji Kaji :
Increased proinflammatory cytokines in sera of patients with multifocal motor neuropathy.,
Journal of the Neurological Sciences, Vol.346, No.1-2, 75-79, 2014.

(要約): Proinflammatory cytokines may contribute to peripheral nerve demyelination in MMN.
(出版サイトへのリンク): ● Publication site (DOI): 10.1016/j.jns.2014.07.059
(文献検索サイトへのリンク): ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 25130929; ● Search Scopus @ Elsevier (PMID): 25130929; ● Search Scopus @ Elsevier (DOI): 10.1016/j.jns.2014.07.059

(DOI: 10.1016/j.jns.2014.07.059, PubMed: 25130929) 酒井和香, 松井尚子, 藤田浩司, 和泉唯信, 西田喜彦, 高橋利幸, 神林崇, 梶龍兒 :
抗利尿ホルモン分泌異常症候群で発症し，橋中心・橋外髄鞘崩壊症を合併した視神経脊髄炎関連疾患の1例,
臨床神経学, Vol.54, No.7, 556-560, 2014年.

(要約): A 36-year-old woman complained of general malaise. She presented with hyponatremia and plasma osmotic pressure was lower than urinary osmotic pressure. In addition, serum antidiuretic hormone level was higher than the measurement sensitivity. She was diagnosed with the syndrome of inappropriate antidiuretic hormone secretion (SIADH). She fell into a coma despite correction of serum sodium level. Brain magnetic resonance imaging (MRI) revealed high signal intensities in the cerebral cortex, striatum, thalamus, hypothalamus, midbrain, and pons in fluid-attenuated inversion recovery images. Spinal MRI revealed a longitudinally extending lesion in the cervical cord. Serum sample was positive for anti-aquaporin-4 antibody, supporting the diagnosis of neuromyelitis optica spectrum disorder (NMOSD) combined with central pontine and extrapontine myelinolysis. In patients with NMOSD, the immune reaction can gradually cause destructive changes of the hypothalamus and lead to unstable ADH secretion in the absence of immunomodulatory treatment.
(キーワード): Adult / Aquaporin 4 / Biomarkers / Brain / Humans / Inappropriate ADH Syndrome / Magnetic Resonance Imaging / Male / Methylprednisolone / Myelinolysis, Central Pontine / Neuromyelitis Optica / Plasma Exchange / Prednisolone / Pulse Therapy, Drug / Sodium / Treatment Outcome
(出版サイトへのリンク): ● Publication site (DOI): 10.5692/clinicalneurol.54.556
(文献検索サイトへのリンク): ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 25087556; ● Summary page in Scopus @ Elsevier: 2-s2.0-84906089774

(DOI: 10.5692/clinicalneurol.54.556, PubMed: 25087556, Elsevier: Scopus) Wataru Sako, Nagahisa Murakami, Yuishin Izumi and Ryuji Kaji :
The difference in putamen volume between MSA and PD: Evidence from a meta-analysis.,
Parkinsonism & Related Disorders, Vol.20, No.8, 873-877, 2014.

(要約): Six studies, comprising a sample size of 84 MSA and 180 PD, were included in this meta-analysis. The overall effect indicated that putamen volume in MSA was significantly more reduced than that in PD with heterogeneous studies (P = 0.0004, 6 studies, n = 264, I(2) = 87%). A subgroup analysis revealed that the category of "Hoehn-Yahr stage of PD" showed a significant subgroup difference with a significant subgroup summary effect (subgroup difference: P = 0.003).
(出版サイトへのリンク): ● Publication site (DOI): 10.1016/j.parkreldis.2014.04.028
(文献検索サイトへのリンク): ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 24844749; ● Search Scopus @ Elsevier (PMID): 24844749; ● Search Scopus @ Elsevier (DOI): 10.1016/j.parkreldis.2014.04.028

(DOI: 10.1016/j.parkreldis.2014.04.028, PubMed: 24844749) Yoshimichi Miyazaki, Wataru Sako, Kenta Sato, Yuishin Izumi and Ryuji Kaji :
MIBG Myocardial Scintigraphy can Predict the Occurrence of Wearing-off Phenomenon in Early-stage Parkinsons Disease,
Journal of Neurological Disorders, Vol.2, 154, 2014.

(出版サイトへのリンク): ● Publication site (DOI): 10.4172/2329-6895.1000154
(文献検索サイトへのリンク): ● Search Scopus @ Elsevier (DOI): 10.4172/2329-6895.1000154

(DOI: 10.4172/2329-6895.1000154) Ai Miyashiro, Naoko Matsui, Yoshimitsu Shimatani, Hiroyuki Nodera, Yuishin Izumi, Satoshi Kawabata, Tomihiro Imai, Masayuki Baba, Tetsuo Komori, Masahiro Sonoo, Takahiro Maezaki, Jun Kawamata, Takefumi Hitomi, Nobuo Kohara, Kimiyoshi Arimura, Shuji Hashimoto, Kokichi Arisawa, Susumu Kusunoki and Ryuji Kaji :
Are multifocal motor neuropathy patients underdiagnosed? An epidemiological survey in Japan,
Muscle & Nerve, Vol.49, No.3, 357-361, 2014.

(要約): Our objective was to do an epidemiologic survey of patients with multifocal motor neuropathy (MMN) in comparison with those with amyotrophic lateral sclerosis (ALS) in Japan. In this retrospective study, we examined 46 patients with MMN and 1,051 patients with ALS from major neuromuscular centers in Japan from 2005 to 2009. Diagnosis was based on the European Federation of Neurological Societies/Peripheral Nerve Society (EFNS/PNS) and the revised El Escorial criteria. The efficacy of intravenous immunoglobulin (IVIg) was also taken into consideration in the diagnosis of MMN. The ratio of MMN to ALS patients (0-0.10) varied among the centers, but mostly converged to 0.05. The prevalence was estimated to be 0.29 MMN patients and 6.63 ALS patients per 100,000 population. The frequency of MMN patients was around 1 out of 20 ALS patients, and MMN was possibly underdiagnosed in some centers.
(キーワード): Adolescent / Adult / Aged / Aged, 80 and over / Amyotrophic Lateral Sclerosis / Evoked Potentials, Motor / Female / Hospitals / Humans / 日本 (Japan) / Male / Middle Aged / Peripheral Nervous System Diseases / Retrospective Studies / Young Adult
(徳島大学機関リポジトリ): ● Metadata: 105906
(出版サイトへのリンク): ● Publication site (DOI): 10.1002/mus.23930
(文献検索サイトへのリンク): ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 24741683; ● Summary page in Scopus @ Elsevier: 2-s2.0-84893935930

(徳島大学機関リポジトリ: 105906, DOI: 10.1002/mus.23930, PubMed: 24741683, Elsevier: Scopus) Wataru Sako, Nagahisa Murakami, Yuishin Izumi and Ryuji Kaji :
MRI Can Detect Nigral Volume Loss in Patients with Parkinson's Disease: Evidence from a Meta-Analysis.,
Journal of Parkinson's Disease, 2014.

(要約): Background: Parkinson's disease (PD) involves the degeneration of dopaminergic neurons in substantia nigra compacta. However, it is still a contentious issue whether magnetic resonance imaging (MRI) can detect the nigral volume loss in PD patients. Objective: We synthesized the results of published research on SN volumetry using a meta-analysis method in order to clarify this issue. Methods: A comprehensive literature search yielded 8 eligible studies. Nigral size was expressed as the standardized mean difference (SMD) between normal controls and PD patients. In addition, subgroup analysis was performed in order to identify the best condition for nigral volumetry. The proportion of variation due to heterogeneity was computed and expressed as I2. Results: Eight studies involved 172 normal control and 193 PD patients. The overall effect indicated that nigral volume in PD was significantly smaller than normal controls with homogeneous studies (SMD = -0.65, P < 0.0001; I2 = 47%). Maximum of subgroup effect was observed in 'volumetry' among three approaches ('thickness': SMD = -0.35, P = 0.18, I2 = not available; 'area': SMD = -0.39, P = 0.14, I2 = 0%; 'volumetry': SMD = -0.82, P = 0.0006, I2 = 56%). The approach including T1-weighted images (T1WI) showed larger effect ('with T1WI': SMD = -1.11, P < 0.00001, I2 = 36%; 'without T1WI': SMD = -0.32, P = 0.04, I2 = 0%). Conclusions: These findings suggest that volumetry based on T1WI could be the most sensitive option to identify nigral volume loss in PD patients.
(出版サイトへのリンク): ● Publication site (DOI): 10.3233/JPD-130332
(文献検索サイトへのリンク): ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 24577503; ● Search Scopus @ Elsevier (PMID): 24577503; ● Search Scopus @ Elsevier (DOI): 10.3233/JPD-130332

(DOI: 10.3233/JPD-130332, PubMed: 24577503) Hiroyuki Nodera, Naoko Takamatsu, Yoshimitsu Shimatani, Atsuko Mori, Kenta Sato, Masaya Oda, Yuka Terasawa, Yuishin Izumi and Ryuji Kaji :
Thinning of cervical nerve roots and peripheral nerves in ALS as measured by sonography.,
Clinical Neurophysiology, Vol.125, No.9, 1906-1911, 2014.

(要約): Sonographic evaluation of nerve roots and peripheral nerves may be a useful disease marker in ALS to confirm the diagnosis and to potentially monitor the disease progression.
(出版サイトへのリンク): ● Publication site (DOI): 10.1016/j.clinph.2014.01.033
(文献検索サイトへのリンク): ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 24657162; ● Search Scopus @ Elsevier (PMID): 24657162; ● Search Scopus @ Elsevier (DOI): 10.1016/j.clinph.2014.01.033

(DOI: 10.1016/j.clinph.2014.01.033, PubMed: 24657162) Yohei Mukai, Yoshimitsu Shimatani, Wataru Sako, Kotaro Asanuma, Hiroyuki Nodera, Takashi Sakamoto, Yuishin Izumi, Tomoko Kohda, Shunji Kozaki and Ryuji Kaji :
Comparison between botulinum neurotoxin type A2 and type A1 by electrophysiological study in healthy individuals.,
Toxicon, Vol.81, 32-36, 2014.

(要約): Botulinum neurotoxin type A1 (BoNTs/A1) and type B (BoNT/B) have been used for treating hyperactive muscle contractions. In the present study, we compared the effect of botulinum neurotoxin subtype A2 (6.5 mouse LD50 units A2 neurotoxin, A2NTX) and onabotulinumtoxinA (10 mouse LD50 units BoNT/A1 product) by measuring the compound muscle action potentials (CMAPs) before and after administration. In total, 8 healthy subjects were examined in the present study. A2NTX was injected into the extensor digitorum brevis (EDB) muscle, followed by onabotulinumtoxinA injection into the contralateral EDB muscle after 16 weeks. The CMAP amplitudes from the EDB, abductor hallucis (AH), and abductor digiti minimi pedis (ADM) muscles were measured after each BoNT injection on days 1, 3, 7, 14, 28, 56, 84, and 112 to assess the effect of the toxin. On day 14, both A2NTX and onabotulinumtoxinA produced an approximately 70% decline in EDB CMAP amplitude compared to the baseline values; significant reduction of the CMAP continued through day 112. The CMAP amplitudes from neighboring muscles (AH and ADM) remained intact throughout the study period, except for a slight but significant drop at day 28 after onabotulinumtoxinA injection compared to A2NTX. The current findings indicate that small doses (6.5 units and 10 units) of A2NTX and onabotulinumtoxinA have at least comparable onset and duration of action, although similar clinical effects were obtained with lower dose using A2NTX.
(徳島大学機関リポジトリ): ● Metadata: 106136
(出版サイトへのリンク): ● Publication site (DOI): 10.1016/j.toxicon.2013.12.012
(文献検索サイトへのリンク): ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 24495439; ● Search Scopus @ Elsevier (PMID): 24495439; ● Search Scopus @ Elsevier (DOI): 10.1016/j.toxicon.2013.12.012

(徳島大学機関リポジトリ: 106136, DOI: 10.1016/j.toxicon.2013.12.012, PubMed: 24495439) Nobuaki Yamamoto, Yuka Terasawa, Junichiro Satomi, Ryoma Morigaki, Koji Fujita, Yuishin Izumi, Shinji Nagahiro and Ryuji Kaji :
Reversibility of ischemic findings on 3-tesla magnetic resonance T2(*)-weighted image after recanalization,
The Journal of Medical Investigation : JMI, Vol.61, No.1,2, 190-196, 2014.

(要約): Ischemic vessel signs (IVS) can be detected on 3-tesla T2(*)-weighted magnetic resonance images as a vessel enlargement at the territory of acute ischemia caused by major vessel occlusion or stenosis. Here, we studied changes in IVS before and after recanalization by the administration of intravenous recombinant tissue plasminogen activator (IV rtPA), carotid artery stenting or percutaneous transluminal angioplasty in patients with major vessel occlusion or stenosis. We performed magnetic resonance imaging for all patients treated by IV rtPA at the time of admission, shortly after and 24-72 hours after treatment with IV rtPA. We reviewed the IVS to assess its natural course of IVS by assessing patients who did not recanalize. IVS tended to disappear after recanalization. Conversely, in patients without recanalization, IVS did not disappear shortly after IV rtPA; rather, it disappeared 24-72 hours after IV rtPA, especially in the presence of complete infarction. Recanalization by IV rtPA or endovascular treatment contributed to improved clinical deficits or the prevention from further progression. IVS can be a parameter of misery perfusion and an important factor to detect the patients who have an indication of treatment for recanalization.
(キーワード): Administration, Intravenous / Aged / Aged, 80 and over / Angioplasty / Carotid Arteries / Carotid Stenosis / Diffusion Magnetic Resonance Imaging / Disease Progression / Female / Humans / 虚血 (ischemia) / Male / Middle Aged / Retrospective Studies / Stents / Time Factors / Tissue Plasminogen Activator / Treatment Outcome
(徳島大学機関リポジトリ): ● Metadata: 109553
(出版サイトへのリンク): ● Publication site (DOI): 10.2152/jmi.61.190
(文献検索サイトへのリンク): ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 24705765; ● Summary page in Scopus @ Elsevier: 2-s2.0-84897951917

(徳島大学機関リポジトリ: 109553, DOI: 10.2152/jmi.61.190, PubMed: 24705765, Elsevier: Scopus) Masaki Kamada, Yuishin Izumi, T Ayaki, Masataka Nakamura, Seiko Kagawa, Eiji Kudo, Wataru Sako, Hirofumi Maruyama, Y Nishida, Hideshi Kawakami, Hidefumi Ito and Ryuji Kaji :
Clinicopathologic features of autosomal recessive amyotrophic lateral sclerosis associated with optineurin mutation,
Neuropathology, Vol.34, No.1, 64-70, 2014.

(要約): We performed clinicopathological analyses of two amyotrophic lateral sclerosis (ALS) patients with homozygous Q398X optineurin (OPTN) mutation. Clinically, both patients presented signs of upper and lower motor neuron degeneration, but only Patient 1 showed gradual frontal dysfunction and extrapyramidal signs, and temporal lobe and motor cortex atrophy. Neuropathological examination of Patient 1 revealed extensive cortical and spinal motor neuron degeneration and widespread degeneration of the basal ganglia. Bilateral corticospinal tracts exhibited degeneration. Loss of spinal anterior horn cells (AHCs) and gliosis were observed, whereas posterior columns, Clarke's columns, intermediate lateral columns, and the Onuf's nucleus were spared. In the brainstem, moderate neuronal loss and gliosis were noted in the hypoglossal and facial motor nuclei. No Bunina bodies were found in the surviving spinal and brainstem motor neurons. Transactivation response (TAR) DNA-binding protein 43 (TDP-43)-positive neuronal and glial cytoplasmic inclusions were observed throughout the central nervous system. The Golgi apparatus in motor neurons of the brainstem and spinal cord was often fragmented. Immunoreactivity for OPTN was not observed in the brain and spinal cord, consistent with nonsense-mediated mRNA decay of OPTN. The TDP-43 pathology of Q398X was similar to that of an autosomal dominant E478G mutation. This result suggests that the loss-of-function, but not the proteinopathy itself, of OPTN results in TDP-43 deposits in neuronal and glial cytoplasm and Golgi apparatus fragmentation, leading to multisystem neurodegeneration.
(キーワード): Amyotrophic Lateral Sclerosis / Female / Genes, Recessive / Humans / Middle Aged / Mutation / Transcription Factor TFIIIA
(出版サイトへのリンク): ● Publication site (DOI): 10.1111/neup.12051
(文献検索サイトへのリンク): ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 23889540; ● Summary page in Scopus @ Elsevier: 2-s2.0-84892808067

(DOI: 10.1111/neup.12051, PubMed: 23889540, Elsevier: Scopus) Wataru Sako, Yoshimichi Miyazaki, Yuishin Izumi and Ryuji Kaji :
Which target is best for patients with Parkinson's disease? A meta-analysis of pallidal and subthalamic stimulation.,
Journal of Neurology, Neurosurgery, and Psychiatry, Vol.85, No.9, 982-986, 2014.

(要約): The effect of GPi DBS was similar to STN DBS except for depression, however, only three studies described depression as adverse events. We need additional randomised trials with direct comparison between targets based on unified scoring of adverse events.
(出版サイトへのリンク): ● Publication site (DOI): 10.1136/jnnp-2013-306090
(文献検索サイトへのリンク): ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 24444854; ● Summary page in Scopus @ Elsevier: 2-s2.0-84905592244

(DOI: 10.1136/jnnp-2013-306090, PubMed: 24444854, Elsevier: Scopus) Yuka Terasawa, Nobuaki Yamamoto, Ryoma Morigaki, Koji Fujita, Yuishin Izumi, Junichiro Satomi, Masafumi Harada, Shinji Nagahiro and Ryuji Kaji :
Brush sign on 3-T t2*-weighted MRI as a potential predictor of hemorrhagic transformation after tissue plasminogen activator therapy,
Stroke, Vol.45, No.1, 274-276, 2014.

(要約): The brush sign (BS) is the enlargement of medullary veins on 3-T T2*-weighted MRI seen in patients with ischemic stroke because of major cerebral artery occlusion. However, the clinical relevance of BS in patients with acute stroke remains unclear. We assessed the correlation between detecting BS with the development of hemorrhagic transformation after intravenous thrombolysis. We enrolled consecutive patients with M1 or M2 occlusion treated with intravenous tissue plasminogen activator. We classified the patients into 2 groups: the group positive for BS (P-BS) and the group negative for BS (N-BS). We investigated the differences in MRI findings and the clinical outcome between the 2 groups. The subjects consisted of 36 patients (19 men; mean age, 74.7 years). Twenty-one patients (58%) had M1 occlusion, and 15 (42%) had M2 occlusion. Twenty-five patients (69%) were classified into the P-BS group and 11 (31%) into the N-BS group. Recanalization was observed in 15 (60%) and 10 (90%) patients in the P-BS and N-BS groups, respectively (P=0.116). Hemorrhagic transformation on MRI was observed more frequently in the P-BS group than in the N-BS group (64% versus 18%; P=0.027). A good outcome (mRS, 0-1) at discharge was found in 24% of patients in the P-BS group and in 45% of patients in the N-BS group (P=0.152). A multivariate logistic regression analysis revealed that the presence of BS (odds ratio, 9.08; 95% confidence interval, 1.4-59.8; P=0.022) was independently associated with hemorrhagic transformation. BS may predict the development of hemorrhagic transformation in patients with acute stroke treated with intravenous tissue plasminogen activator.
(キーワード): Aged / Aged, 80 and over / Cerebral Hemorrhage / Disease Progression / Female / Fibrinolytic Agents / Humans / Image Processing, Computer-Assisted / Intracranial Embolism / Magnetic Resonance Imaging / Male / Middle Aged / Prognosis / Prospective Studies / Stroke / Thrombolytic Therapy / Tissue Plasminogen Activator / Treatment Outcome
(出版サイトへのリンク): ● Publication site (DOI): 10.1161/STROKEAHA.113.002640
(文献検索サイトへのリンク): ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 24172577; ● Summary page in Scopus @ Elsevier: 2-s2.0-85027928664

(DOI: 10.1161/STROKEAHA.113.002640, PubMed: 24172577, Elsevier: Scopus) Ryosuke Miyamoto, Hiroyuki Morino, Akio Yoshizawa, Yoshimichi Miyazaki, Hirofumi Maruyama, Nagahisa Murakami, Kei Fukada, Yuishin Izumi, Shinya Matsuura, Ryuji Kaji and Hideshi Kawakami :
Exome sequencing reveals a novel MRE11 mutation in a patient with progressive myoclonic ataxia.,
Journal of the Neurological Sciences, Vol.337, No.1-2, 219-223, 2013.

(要約): Progressive myoclonic ataxia (PMA) is a clinical syndrome defined as progressive ataxia and myoclonus and infrequent seizures in the absence of progressive dementia. Due to the extremely heterogeneous nature of PMA, a large proportion of PMA cases remain molecularly undiagnosed. The aim of this study was to clarify the molecular etiology of PMA. The patient was a 52-year-old female from consanguineous parents. She developed a jerking neck movement at age 9, which gradually expanded to her entire body. On physical examination at age 47, she exhibited generalized, spontaneous myoclonus that occurred continuously. She also presented with mild limb and truncal ataxia. An electroencephalogram revealed no abnormalities. A brain MRI displayed no atrophy of the cerebellum. Electrophysiological studies suggested myoclonus of a subcortical origin. For further evaluation, we performed exome sequencing, and we identified a novel homozygous missense mutation in the MRE11 gene (NM_005590:c.140C>T:p.A47V). Subsequently, we analyzed the expression of MRE11 and related proteins (RAD50 and NBS1) via Western blot, and they were markedly decreased compared to a healthy control. Mutations in the MRE11 gene have been known to cause an ataxia-telangiectasia-like (ATLD) disorder. Accumulating evidence has indicated that its wide phenotypic variations in ATLD correspond to genotypic differences. Interestingly, our case exhibited a relatively mild decrease in NBS1 compared to previously reported cases of a homozygous missense mutation, which may account for the milder phenotype in this patient. Moreover, together with a recently reported case of an MRE11 mutation, it is suggested that MRE11 mutations can present as PMA.
(キーワード): 脳 (brain) / DNA Mutational Analysis / DNA-Binding Proteins / Exome / Female / Humans / 磁気共鳴映像法 (magnetic resonance imaging) / Middle Aged / Mutation / Myoclonic Cerebellar Dyssynergia
(出版サイトへのリンク): ● Publication site (DOI): 10.1016/j.jns.2013.11.032
(文献検索サイトへのリンク): ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 24332946; ● Search Scopus @ Elsevier (PMID): 24332946; ● Search Scopus @ Elsevier (DOI): 10.1016/j.jns.2013.11.032

(DOI: 10.1016/j.jns.2013.11.032, PubMed: 24332946) Koji Fujita, Naoko Matsui, Yukitoshi Takahashi, Yasushi Iwasaki, Mari Yoshida, Tatsuhiko Yuasa, Yuishin Izumi and Ryuji Kaji :
Increased interleukin-17 in the cerebrospinal fluid in sporadic Creutzfeldt-Jakob disease: a case-control study of rapidly progressive dementia,
Journal of Neuroinflammation, Vol.10, 135, 2013.

(要約): Inflammatory responses in the cerebrospinal fluid (CSF) of patients with sporadic Creutzfeldt-Jakob disease (sCJD) remain elusive. We conducted a case-control study, in which 14 patients with sCJD, 14 with noninflammatory neurological disorders, and 14 with autoimmune encephalitis were enrolled. We used the suspension array system to measure the concentrations of 27 cytokines in CSF. The cytokine titers of the three groups were compared, and the correlation between the relevant cytokine titers and clinical parameters was investigated in the patients with sCJD. Levels of the two cytokines interleukin (IL)-1 receptor antagonist and IL-17 were significantly elevated in the patients with sCJD compared with those in the patients with noninflammatory neurological disorders: IL-17 levels in sCJD were approximately ten times higher than in the noninflammatory neurological disorders (mean, 35.46 vs. 3.45 pg/ml; P < 0.001) but comparable to that in encephalitis (mean, 32.16 pg/ml). In contrast, levels of classical proinflammatory cytokines such as IL-12(p70) and tumor necrosis factor-α were increased only in encephalitis. Although not significant, IL-17 titers tended to be higher in the patients with shorter disease duration before CSF sampling (r = -0.452; P = 0.104) and in those with lower CSF total protein concentrations (r = -0.473; P = 0.086). IL-17 is significantly increased in CSF in sCJD, which can be an early event in the pathogenesis of sCJD.
(キーワード): Aged / Case-Control Studies / Creutzfeldt-Jakob Syndrome / Dementia / Disease Progression / Female / Humans / Interleukin-17 / Male
(出版サイトへのリンク): ● Publication site (DOI): 10.1186/1742-2094-10-135
(文献検索サイトへのリンク): ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 24219883; ● Search Scopus @ Elsevier (PMID): 24219883; ● Search Scopus @ Elsevier (DOI): 10.1186/1742-2094-10-135

(DOI: 10.1186/1742-2094-10-135, PubMed: 24219883) Yuka Terasawa, Yusuke Osaki, Toshitaka Kawarai, Tatsurou Sugimoto, Antonio Orlacchio, Takashi Abe, Yuishin Izumi and Ryuji Kaji :
Increasing and persistent DWI changes in a patient with Hereditary Diffuse Leukoencephalopathy with Spheroids.,
Journal of the Neurological Sciences, 2013.

(要約): We report a case with genetically confirmed hereditary diffuse leukoencephalopathy with spheroids with distinctive MRI features. A 52-year-old woman with a family history of juvenile dementia presented with an 18-month history of progressive cognitive decline. Longitudinal magnetic resonance imaging studies of the brain revealed increasing and persistent white matter hyperintensities on diffusion-weighted images. Linear high intensity signal along axonal fibers arisen from the cerebral cortex was also shown. Finding of subcortical calcifications was noted on brain CT scan. Sequence analysis of CSF1R showed a novel missense mutation c.2467C>T (p.Ala823Val). Persistent and increasing diffusion on magnetic resonance image, presumably reflecting intramyelinic oedema in regions of neurodegeneration, is a distinctive feature observed in this case. The presence of this unique finding can be a diagnostic clue in the early stage of the disease.
(キーワード): Hereditary Diffuse Leukoencephalopathy with Spheroids (HDLS) / Diffusion-weighted imaging (DWI) / colony stimulating factor 1 receptor (CSF1R)
(出版サイトへのリンク): ● Publication site (DOI): 10.1016/j.jns.2013.08.027
(文献検索サイトへのリンク): ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 24094860; ● Search Scopus @ Elsevier (PMID): 24094860; ● Search Scopus @ Elsevier (DOI): 10.1016/j.jns.2013.08.027

(DOI: 10.1016/j.jns.2013.08.027, PubMed: 24094860) Syunya Nakane, Koji Fujita, Yoshiko Shibuta, Naoko Matsui, Masafumi Harada, Ryo Urushihara, Yoshihiko Nishida, Yuishin Izumi and Ryuji Kaji :
Successful treatment of stiff person syndrome with sequential use of tacrolimus,
Journal of Neurology, Neurosurgery, and Psychiatry, Vol.84, No.10, 1177-1180, 2013.

(キーワード): Aged / Autoantibodies / Brain / Dose-Response Relationship, Drug / Drug Administration Schedule / Evoked Potentials, Motor / Female / Follow-Up Studies / Glutamate Decarboxylase / Humans / Immunosuppressive Agents / Magnetic Resonance Spectroscopy / Male / Middle Aged / Motor Cortex / Neurologic Examination / Stiff-Person Syndrome / Tacrolimus / Transcranial Magnetic Stimulation / gamma-Aminobutyric Acid
(出版サイトへのリンク): ● Publication site (DOI): 10.1136/jnnp-2013-305425
(文献検索サイトへのリンク): ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 23715915; ● Search Scopus @ Elsevier (PMID): 23715915; ● Search Scopus @ Elsevier (DOI): 10.1136/jnnp-2013-305425

(DOI: 10.1136/jnnp-2013-305425, PubMed: 23715915) Miyashiro Ai, Sugihara Katsunobu, Toshitaka Kawarai, Miyamoto Ryosuke, Yuishin Izumi, Morino Hiroyuki, Maruyama Hirofumi, Orlacchio Antonio, Kawakami Hideshi and Ryuji Kaji :
Oromandibular dystonia associated with SCA36,
Movement Disorders, Vol.28, No.4, 558-559, 2013.

(キーワード): dystonia / spinocerebellar ataxia 36 / botulinum A toxin
(出版サイトへのリンク): ● Publication site (DOI): 10.1002/mds.25304
(文献検索サイトへのリンク): ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 23390045; ● Summary page in Scopus @ Elsevier: 2-s2.0-84876101146

(DOI: 10.1002/mds.25304, PubMed: 23390045, Elsevier: Scopus) Toshitaka Kawarai, Pasco Matthew D. Paul, Teleg A. Rosalia, Masaki Kamada, Sakai Waka, Komei Shimozono, Makoto Mizuguchi, Tabuena Daisy, Orlacchio Antonio, Yuishin Izumi, Satoshi Goto, Lee V. Lillian and Ryuji Kaji :
Application of long-range polymerase chain reaction in the diagnosis of X-linked dystonia-parkinsonism,
Neurogenetics, Vol.14, No.2, 167-169, 2013.

(キーワード): dystonia / genetic testing / long-range PCR
(出版サイトへのリンク): ● Publication site (DOI): 10.1007/s10048-013-0357-x
(文献検索サイトへのリンク): ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 23435702; ● Search Scopus @ Elsevier (PMID): 23435702; ● Search Scopus @ Elsevier (DOI): 10.1007/s10048-013-0357-x

(DOI: 10.1007/s10048-013-0357-x, PubMed: 23435702) Koji Fujita, W Sakai, Masafumi Harada, Mika Sakaki, Hideo Mure, Shinji Nagahiro, Yuishin Izumi and Ryuji Kaji :
Basal ganglia hyperintensity on T1-weighted imaging of a patient with central nervous system metastasis producing carcinoembryonic antigens,
Internal Medicine, Vol.52, No.3, 381-383, 2013.

(要約): We herein report unusual basal ganglia hyperintense lesions on noncontrast T1-weighted magnetic resonance imaging in a patient with central nervous system metastasis from lung adenocarcinoma that was treated with gefitinib. T2*-weighted magnetic resonance imaging showed no hypointense lesions, thereby excluding the possibility of calcification or haemorrhage. A stereotactic brain biopsy of the left basal ganglia lesions revealed atypical cells, some of which formed a glandular lumen with a micropapillary pattern. These cells were immunopositive for markers of lung adenocarcinoma, thereby confirming the diagnosis of metastasis. We speculate that proteins, including carcinoembryonic antigens from the adenocarcinoma cells in the basal ganglia, may have contributed to the hyperintensity observed on noncontrast T1-weighted magnetic resonance imaging.
(キーワード): Adenocarcinoma / Basal Ganglia / Brain Neoplasms / Carcinoembryonic Antigen / Female / Humans / Lung Neoplasms / Magnetic Resonance Imaging / Middle Aged
(出版サイトへのリンク): ● Publication site (DOI): 10.2169/internalmedicine.52.8835
(文献検索サイトへのリンク): ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 23370750; ● Summary page in Scopus @ Elsevier: 2-s2.0-84873503009

(DOI: 10.2169/internalmedicine.52.8835, PubMed: 23370750, Elsevier: Scopus) Naoko Matsui, Ai Miyashiro, Yoshimitsu Shimatani, Hiroyuki Nodera, Yuishin Izumi, Satoshi Kuwabara, Masayuki Baba, Tetsuo Komori, Masahiro Sonoo, Takahiro Mezaki, Jun Kawamata, Takefumi Hitomi, Tomihiro Imai, Nobuo Kohara, Kimiyoshi Arimura, Kokichi Arisawa, Susumu Kusunoki and Ryuji Kaji :
Diagnostic spectrum of multifocal motor neuropathy,
Clinical & Experimental Neuroimmunology, Vol.4, No.2, 210-215, 2013.

(出版サイトへのリンク): ● Publication site (DOI): 10.1111/cen3.12025
(文献検索サイトへのリンク): ● Search Scopus @ Elsevier (DOI): 10.1111/cen3.12025

(DOI: 10.1111/cen3.12025) Hiroyuki Ishiura, Wataru Sako, Mari Yoshida, Toshitaka Kawarai, Osamu Tanabe, Jun Goto, Yuji Takahashi, Hidetoshi Date, Jun Mitsui, Budrul Ahsan, Yaeko Ichikawa, Atsushi Iwata, Hiide Yoshino, Yuishin Izumi, Koji Fujita, Kouji Maeda, Satoshi Goto, Hidetaka Koizumi, Ryoma Morigaki, Masako Ikemura, Naoko Yamauchi, Shigeo Murayama, A Garth Nicholson, Hidefumi Ito, Gen Sobue, Masanori Nakagawa, Ryuji Kaji and Shoji Tsuji :
The TRK-fused gene is mutated in hereditary motor and sensory neuropathy with proximal dominant involvement.,
American Journal of Human Genetics, Vol.91, No.2, 320-329, 2012.

(要約): Hereditary motor and sensory neuropathy with proximal dominant involvement (HMSN-P) is an autosomal-dominant neurodegenerative disorder characterized by widespread fasciculations, proximal-predominant muscle weakness, and atrophy followed by distal sensory involvement. To date, large families affected by HMSN-P have been reported from two different regions in Japan. Linkage and haplotype analyses of two previously reported families and two new families with the use of high-density SNP arrays further defined the minimum candidate region of 3.3 Mb in chromosomal region 3q12. Exome sequencing showed an identical c.854C>T (p.Pro285Leu) mutation in the TRK-fused gene (TFG) in the four families. Detailed haplotype analysis suggested two independent origins of the mutation. Pathological studies of an autopsied patient revealed TFG- and ubiquitin-immunopositive cytoplasmic inclusions in the spinal and cortical motor neurons. Fragmentation of the Golgi apparatus, a frequent finding in amyotrophic lateral sclerosis, was also observed in the motor neurons with inclusion bodies. Moreover, TAR DNA-binding protein 43 kDa (TDP-43)-positive cytoplasmic inclusions were also demonstrated. In cultured cells expressing mutant TFG, cytoplasmic aggregation of TDP-43 was demonstrated. These findings indicate that formation of TFG-containing cytoplasmic inclusions and concomitant mislocalization of TDP-43 underlie motor neuron degeneration in HMSN-P. Pathological overlap of proteinopathies involving TFG and TDP-43 highlights a new pathway leading to motor neuron degeneration.
(キーワード): Base Sequence / Chromosomes, Human, Pair 3 / DNA-Binding Proteins / Exome / Genetic Linkage / Genetic Predisposition to Disease / Golgi Apparatus / Haplotypes / Hereditary Sensory and Motor Neuropathy / Humans / Inclusion Bodies / 日本 (Japan) / Molecular Sequence Data / Motor Neurons / Pedigree / Point Mutation / Polymorphism, Single Nucleotide / Proteins / Sequence Analysis, DNA
(出版サイトへのリンク): ● Publication site (DOI): 10.1016/j.ajhg.2012.07.014
(文献検索サイトへのリンク): ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 22883144; ● Search Scopus @ Elsevier (PMID): 22883144; ● Search Scopus @ Elsevier (DOI): 10.1016/j.ajhg.2012.07.014

(DOI: 10.1016/j.ajhg.2012.07.014, PubMed: 22883144) Ryosuke Miyamoto, Etsuro Ohta, Toshitaka Kawarai, Hidetaka Koizumi, Wataru Sako, Yuishin Izumi, Fumiya Obata and Ryuji Kaji :
Broad spectrum of dystonia associated with a novel thanatosis-associated protein domain-containing apoptosis-associated protein 1 mutation in a Japanese family with dystonia 6, torsion.,
Movement Disorders, Vol.27, No.10, 1324-1325, 2012.

(キーワード): dystonia / DYT6 / Deep Brain Stimulation / DNA mutation / genotype-phenotype correlations
(出版サイトへのリンク): ● Publication site (DOI): 10.1002/mds.25106
(文献検索サイトへのリンク): ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 22821615; ● Summary page in Scopus @ Elsevier: 2-s2.0-84866267286

(DOI: 10.1002/mds.25106, PubMed: 22821615, Elsevier: Scopus) Koji Fujita, Tatsuhiko Yuasa, Yukitoshi Takahashi, Keiko Tanaka, Wataru Sako, Hidetaka Koizumi, Yasushi Iwasaki, Mari Yoshida, Yuishin Izumi and Ryuji Kaji :
Antibodies to N-methyl-D-aspartate glutamate receptors in Creutzfeldt-Jakob disease patients.,
Journal of Neuroimmunology, Vol.251, No.1-2, 90-93, 2012.

(要約): Psychiatric symptom can be a prominent feature early in Creutzfeldt-Jakob disease (CJD), which is also common in autoantibody-mediated limbic encephalitis. We hypothesized that anti-neuronal autoantibodies, especially those against N-methyl-D-aspartate glutamate receptors (NMDAR), can also be associated with CJD. Thirteen patients with CJD and 13 patients with limbic encephalitis were enrolled. Immunohistochemistry demonstrated that serum of CJD patients reacted with neuronal components of the rat hippocampus, indicating that those samples contained anti-neuronal antibodies. Enzyme-linked immunosorbent assay revealed that titers of antibodies against peptides of GluN2B subunit of NMDAR were significantly elevated in the serum and cerebrospinal fluid of CJD patients.
(キーワード): Aged / Aged, 80 and over / Animals / Autoantibodies / Creutzfeldt-Jakob Syndrome / 女性 (female) / Hippocampus / Humans / Limbic Encephalitis / 男性 (male) / Middle Aged / Rats / Receptors, N-Methyl-D-Aspartate
(出版サイトへのリンク): ● Publication site (DOI): 10.1016/j.jneuroim.2012.06.010
(文献検索サイトへのリンク): ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 22809875; ● Summary page in Scopus @ Elsevier: 2-s2.0-84865619727

(DOI: 10.1016/j.jneuroim.2012.06.010, PubMed: 22809875, Elsevier: Scopus) Kotaro Ogaki, Yuanzhe Li, Naoki Atsuta, Hiroyuki Tomiyama, Manabu Funayama, Hazuki Watanabe, Ryoichi Nakamura, Hideo Yoshino, Seiji Yato, Asako Tamura, Yutaka Naito, Akira Taniguchi, Koji Fujita, Yuishin Izumi, Ryuji Kaji, Nobutaka Hattori and Gen Sobue :
Analysis of C9orf72 repeat expansion in 563 Japanese patients with amyotrophic lateral sclerosis.,
Neurobiology of Aging, Vol.33, No.10, 2527.e11-6, 2012.

(要約): Recently, a hexanucleotide repeat expansion in C9orf72 was identified as the most common cause of both sporadic and familial amyotrophic lateral sclerosis (ALS) and frontotemporal dementia in Western populations. We analyzed 563 Japanese patients with ALS (552 sporadic and 11 familial) using fluorescent fragment-length analysis of C9orf72 and repeat-primed polymerase chain reaction analysis. Haplotype analysis was performed for 42 single nucleotide polymorphisms in patients with C9orf72 repeat expansion. C9orf72 repeat expansion was found in 2 patients with sporadic ALS (2/552 = 0.4%) and no patients with familial ALS (0/11 = 0%). In the probands' families, 1 primary progressive aphasia patient and 1 asymptomatic 76-year-old individual exhibited C9orf72 repeat expansion. All of the patients with the C9orf72 repeat expansion carried the 20-single nucleotide polymorphism consensus risk haplotype. The frequency of the C9orf72 repeat expansion among Japanese patients is much lower than in Western populations. The existence of a 76-year-old asymptomatic carrier supported the notion of incomplete penetrance. The C9orf72 mutation should be analyzed in sporadic ALS patients after determining their family histories not only of frontotemporal dementia but also of primary progressive aphasia.
(キーワード): Adult / Age of Onset / Aged / Aged, 80 and over / Amyotrophic Lateral Sclerosis / Asian Continental Ancestry Group / DNA Repeat Expansion / Female / Gene Frequency / Haplotypes / Humans / Male / Middle Aged / Mutation / Neuropsychological Tests / Penetrance / Polymorphism, Single Nucleotide / Proteins
(出版サイトへのリンク): ● Publication site (DOI): 10.1016/j.neurobiolaging.2012.05.011
(文献検索サイトへのリンク): ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 22727276; ● Search Scopus @ Elsevier (PMID): 22727276; ● Search Scopus @ Elsevier (DOI): 10.1016/j.neurobiolaging.2012.05.011

(DOI: 10.1016/j.neurobiolaging.2012.05.011, PubMed: 22727276) Ryosuke Miyamoto, Satoshi Goto, Wataru Sako, Ai Miyashiro, Isabelle Kim, Fabienne Escande, Masafumi Harada, Ryoma Morigaki, Koutaro Asanuma, Yoshifumi Mizobuchi, Shinji Nagahiro, Yuishin Izumi and Ryuji Kaji :
Generalized dystonia in a patient with a novel mutation in the GLUD1 gene,
Movement Disorders, Vol.27, No.9, 1198-1199, 2012.

(キーワード): Adolescent / Deep Brain Stimulation / Dystonic Disorders / Electroencephalography / Epilepsy, Tonic-Clonic / Female / Glutamate Dehydrogenase / Humans / Hyperinsulinism / Mutation / Polymerase Chain Reaction
(出版サイトへのリンク): ● Publication site (DOI): 10.1002/mds.25081
(文献検索サイトへのリンク): ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 22730017; ● Summary page in Scopus @ Elsevier: 2-s2.0-84864777670

(DOI: 10.1002/mds.25081, PubMed: 22730017, Elsevier: Scopus) Yuka Terasawa, Koji Fujita, Yuishin Izumi and Ryuji Kaji :
Early detection of familial Creutzfeldt-Jakob disease on diffusion-weighted imaging before symptom onset.,
Journal of the Neurological Sciences, Vol.319, No.1-2, 130-132, 2012.

(要約): Familial Creutzfeldt-Jakob disease (CJD) with V180I shows different clinical characteristics from classical CJD and is difficult to diagnose in the early stage. We report a CJD180 patient in whom results of diffusion-weighted imaging (DWI) led us to suspect CJD before symptoms started. A 68-year-old woman presented to our hospital with headache and nausea and underwent magnetic resonance imaging. DWI showed cortical hyperintensity. Three months later, cognitive function started to decline and CJD180 was diagnosed following genetic examination. In the early stage, ADC values were not decreased and single positron emission computed tomography demonstrated a decreased pattern like Alzheimer disease.
(キーワード): Aged / Brain / Creutzfeldt-Jakob Syndrome / Diffusion Magnetic Resonance Imaging / Disease Progression / Early Diagnosis / Female / Headache / Humans / Nausea
(出版サイトへのリンク): ● Publication site (DOI): 10.1016/j.jns.2012.04.004
(文献検索サイトへのリンク): ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 22640903; ● Search Scopus @ Elsevier (PMID): 22640903; ● Search Scopus @ Elsevier (DOI): 10.1016/j.jns.2012.04.004

(DOI: 10.1016/j.jns.2012.04.004, PubMed: 22640903) Koji Fujita, Tatsuhiko Yuasa, Osamu Watanabe, Yukitoshi Takahashi, Shuji Hashiguchi, Katsuhito Adachi, Yuishin Izumi and Ryuji Kaji :
Voltage-gated potassium channel complex antibodies in Creutzfeldt-Jakob disease.,
Journal of Neurology, Vol.259, No.10, 2249-2250, 2012.

(キーワード): Autoantibodies / Autoantigens / Creutzfeldt-Jakob Syndrome / Humans / 男性 (male) / Middle Aged / Potassium Channels, Voltage-Gated
(出版サイトへのリンク): ● Publication site (DOI): 10.1007/s00415-012-6554-y
(文献検索サイトへのリンク): ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 22638567; ● Search Scopus @ Elsevier (PMID): 22638567; ● Search Scopus @ Elsevier (DOI): 10.1007/s00415-012-6554-y

(DOI: 10.1007/s00415-012-6554-y, PubMed: 22638567) Yoshimichi Miyazaki, Wataru Sako, Koutaro Asanuma, Yuishin Izumi, T Miki and Ryuji Kaji :
Efficacy of zolpidem for dystonia: a study among different subtypes,
Frontiers in Neurology, Vol.3, No.58, 2012.

(要約): Although there are some newly developed options to treat dystonia, its medical treatment is not always satisfactory. Zolpidem, an imidazopyridine agonist with a high affinity on benzodiazepine subtype receptor BZ1 (ω1), was found to improve clinical symptoms of dystonia in a limited number of case reports. To investigate what subtype of dystonia is responsive to the therapy, we conducted an open label study to assess the efficacy of zolpidem (5-20 mg) in 34 patients suffering from miscellaneous types of dystonia using the Burke-Fahn-Marsden Dystonia Rating Scale (BFMDRS). Patients were entered into the study if they had been refractory to other medications as evaluated by BFMDRS (no change in the previous two successive visits). After zolpidem therapy, the scores in the patients as a whole were decreased from 7.2 ± 7.9 to 5.5 ± 5.0 (P = 0.042). Patients with generalized dystonia, Meige syndrome/blepharospasm, and hand dystonia improved in the scale by 27.8, 17.8, and 31.0%, respectively, whereas no improvement was found in cervical dystonia patients. Overall response rate among patients were comparable to that of trihexyphenidyl. Zolpidem may be a therapeutic option for generalized dystonia, Meige syndrome, and hand dystonia including musician's. Drowsiness was the dose-limiting factor.
(徳島大学機関リポジトリ): ● Metadata: 114906
(出版サイトへのリンク): ● Publication site (DOI): 10.3389/fneur.2012.00058
(文献検索サイトへのリンク): ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 22529836; ● Summary page in Scopus @ Elsevier: 2-s2.0-84865851195

(徳島大学機関リポジトリ: 114906, DOI: 10.3389/fneur.2012.00058, PubMed: 22529836, Elsevier: Scopus) Yukiko Kuroda, Wataru Sako, Satoshi Goto, Tomoyo Sawada, Daisuke Uchida, Yuishin Izumi, Tetsuya Takahashi, Noriko Kagawa, Masayasu Matsumoto, Mitsuru Matsumoto, Ryosuke Takahashi, Ryuji Kaji and Takao Mitsui :
Parkin interacts with Klokin1 for mitochondrial import and maintenance of membrane potential,
Human Molecular Genetics, Vol.21, No.5, 991-1003, 2012.

(要約): Parkin is a multifunctional protein, including maintaining mitochondrial homeostasis. Recent evidence suggests that Parkin is recruited from the cytoplasm to damaged mitochondria with low membrane potential. We found that intracellular localization of Parkin changed with cellular growth phase. Parkin was preferentially localized in the mitochondria of cultured cells. The mitochondria with large amounts of Parkin showed preserved membrane potentials even during treatment with carbonyl cyanide m-chlorophenylhydrazone. Here we report a novel protein named Klokin 1 that transports Parkin to the mitochondria. Klokin 1 was localized to the mitochondria and enhanced mitochondrial expression of Parkin. Klokin 1 enhanced cell viability in Parkin-silenced cells. Klokin 1 expression was enhanced in the brains of Parkin-deficient mice but not in an autopsied PARK2 brain. Our findings indicate that mitochondrial Parkin prevents mitochondrial depolarization and that Klokin 1 may compensate for Parkin deficiency.
(キーワード): Amino Acid Sequence / Animals / Base Sequence / Brain / COS Cells / Carbonyl Cyanide m-Chlorophenyl Hydrazone / Cell Proliferation / Cell Survival / Cercopithecus aethiops / HeLa Cells / Humans / Membrane Potential, Mitochondrial / Mice / Mitochondria / Molecular Sequence Data / N-Acetylgalactosaminyltransferases / Protein Isoforms / Ubiquitin-Protein Ligases
(出版サイトへのリンク): ● Publication site (DOI): 10.1093/hmg/ddr530
(文献検索サイトへのリンク): ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 22082830; ● Summary page in Scopus @ Elsevier: 2-s2.0-84863059295

(DOI: 10.1093/hmg/ddr530, PubMed: 22082830, Elsevier: Scopus) Wataru Sako, Hidefumi Ito, Mari Yoshida, Hidetaka Koizumi, Masaki Kamada, Koji Fujita, Yoshio Hashizume, Yuishin Izumi and Ryuji Kaji :
Nuclear factor B expression in patients with sporadic amyotrophic lateral sclerosis and hereditary amyotrophic lateral sclerosis with optineurin mutations,
Clinical Neuropathology, Vol.31, No.6, 418-423, 2011.

(要約): Nuclear factor κ B (NF-κB) is involved in the pathogenesis of a number of neurodegenerative disorders with neuroinflammation. In order to clarify the role of NF-κB in ALS, immunohistochemical studies with an antibody that recognizes the p65 subunit of NF-κB were performed on the spinal anterior horn of 4 patients with sporadic ALS (sALS), 1 patient with optineurin-mutated ALS (OPTN-ALS), and 3 normal controls (NC). In patients with sALS or OPTN-ALS, the expression pattern of NF-κB was altered when compared to that of NC; NF-κB immunoreactivity tended to be absent from neuronal nucleus and was increased in microglia. The down-regulation of NF-κB in neuronal nucleus might contribute to a loss of neuroprotection, or neurons with nuclear NF-κB might be lost immediately after its activation. The microglial induction of NF-κB might contribute to neuroinflammation. In conclusion, NF-κB signaling pathway could have a key role in the pathomechanism of ALS.
(キーワード): Aged / Aged, 80 and over / Amyotrophic Lateral Sclerosis / Blotting, Western / Female / Humans / 免疫組織化学 (immunohistochemistry) / Male / Middle Aged / NF-kappa B / 脊髄 (spinal cord) / Transcription Factor TFIIIA
(出版サイトへのリンク): ● Publication site (DOI): 10.5414/NP300493
(文献検索サイトへのリンク): ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 22762947; ● Summary page in Scopus @ Elsevier: 2-s2.0-84871831437

(DOI: 10.5414/NP300493, PubMed: 22762947, Elsevier: Scopus) 和泉唯信, 中村和己, 永廣信治 :
行政的な「高次脳機能障害」の診断,
四国医学雑誌, Vol.67, 29-34, 2011年.

(要約): Diagnostic criteria of the administrative higher brain dysfunction are defined. Young people between the period of entering school and starting work occasionally suffer from brain damage. Although the patient may seem to recover, memory and attention disturbances may continue. As a result, higher brain dysfunction may interfere with return to school, and reinstatement is difficult.Patients diagnosed with higher brain dysfunction by these diagnostic criteria can continue rehabilitation and achieve functional restoration. In the Tokushima University Hospital, many patients with cerebrovascular disease, brain tumor, or traffic injury(in that order)consulted about higher brain dysfunction.
(キーワード): higher brain dysfunction / diagnostic criteria
(徳島大学機関リポジトリ): ● Metadata: 110349
(文献検索サイトへのリンク): ● CiNii @ 国立情報学研究所 (CRID): 1050583647830831104

(徳島大学機関リポジトリ: 110349, CiNii: 1050583647830831104) 宮﨑由道, 高松直子, 宮城愛, 寺澤由佳, 松井尚子, 浅沼光太郎, 和泉唯信, 梶龍兒 :
筋エコーにより筋炎の関与が判明した右房拡張症の一例,
神経超音波医学, Vol.24, No.1, 12-14, 2011年.

(要約): 症例は45歳女性で，全身倦怠感を主訴にした．42歳時に動悸症状を自覚し，44歳時に全身倦怠感を強く自覚し，近医の心電図で心房細動を指摘された．聴診では心雑音や過剰心音はなく，肺音は清，頸動脈雑音を認めなかった．頸部，四肢近位部にごく軽度の筋力低下を認め，Gowers徴候は明らかでなかった．24時間心電図検査で頻発する発作性心房細動を認め，モニター心電図で最大約7秒の洞停止を確認した．心エコーでは右房の著明な拡張，左房の軽度拡張を認めた．三尖弁に軽度逆流を認めたが，逆流の程度からは右房拡張の直接原因とは考え難かった．僧帽弁に異常は認めず，左室収縮能は保たれていた．膠原病関連疾患としての筋炎，サルコイドーシスなどの鑑別目的に筋エコー検査を施行した．特発性右房拡張症中に，全身性筋炎を伴う心筋炎を原因とした一群の存在の可能性があり，スクリーニング検査として，筋エコー検査は侵襲性が少なく，簡便で，またペースメーカー導入後も使用でき有用であった．
(キーワード): *Methylprednisolone(治療的利用) *病的拡張症(病因,超音波診断,薬物療法) *筋炎(合併症,超音波診断,薬物療法) *超音波診断 *パルス療法(薬物療法) *心房拡張(病因,超音波診断,薬物療法) ヒト中年(45~64) 女
(出版サイトへのリンク): ● Publication site (DOI): 10.2301/neurosonology.24.12
(文献検索サイトへのリンク): ● CiNii @ 国立情報学研究所 (CRID): 1390282679397005184; ● Search Scopus @ Elsevier (DOI): 10.2301/neurosonology.24.12

(DOI: 10.2301/neurosonology.24.12, CiNii: 1390282679397005184) Koji Fujita, Masafumi Harada, Tatsuhiko Yuasa, Makoto Sasaki, Yuishin Izumi and Ryuji Kaji :
Temporal evolution of sporadic Creutzfeldt-Jakob disease monitored by 3-Tesla MR spectroscopy.,
Journal of Neurology, Vol.258, No.7, 1368-1370, 2011.

(キーワード): Aged / Aspartic Acid / Choline / Creutzfeldt-Jakob Syndrome / Disease Progression / 女性 (female) / Humans / Magnetic Resonance Spectroscopy / 男性 (male)
(出版サイトへのリンク): ● Publication site (DOI): 10.1007/s00415-011-5939-7
(文献検索サイトへのリンク): ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 21327850; ● Search Scopus @ Elsevier (PMID): 21327850; ● Search Scopus @ Elsevier (DOI): 10.1007/s00415-011-5939-7

(DOI: 10.1007/s00415-011-5939-7, PubMed: 21327850) Masafumi Harada, Naomi Morita, Masaaki Uno, Junichiro Satomi, Yuishin Izumi, Koutaro Asanuma, Hiromu Nishitani, Ryuji Kaji and Shinji Nagahiro :
Incidence and clinical correlation of intracranial hemorrhages observed by 3-tesla gradient echo T2*-weighted images following intravenous thrombolysis with recombinant tissue plasminogen activator,
Cerebrovascular Diseases, Vol.29, No.6, 571-575, 2010.

(要約): The purpose of this study was to determine the incidence and clinical correlation of intracranial hemorrhages (ICHs) detected by 3-tesla gradient echo T(2)*-weighted images after intravenous recombinant tissue plasminogen activator (rt-PA) administration. We included 43 consecutive patients with anterior-circulation ischemia who underwent MRI studies before and after thrombolysis. Each hemorrhage was classified as a hemorrhagic infarction (HI) or parenchymal hemorrhage (PH) according to the European Cooperative Acute Stroke Study definition. The clinical outcome was defined as an improvement (> or =4-point reduction) or deterioration (> or =4-point increase) based on a comparison between the initial and the 30-day NIHSS scores. The incidence of ICHs was 58%, and the HI rate was 52%; both were higher than the rates reported in the literature. Most of the patients with HI improved clinically, and these patients had second MRAs that showed recanalization. None of the patients with PH demonstrated improvement. Three-tesla MRI may reveal a higher frequency of HI type hemorrhages than lower-field MRIs, and HI may be a predictor of good recovery by reflecting the presence of recanalization. The rate of PH in our study was low compared to other studies, probably due to the lower dosage of rt-PA.
(キーワード): Acute Disease / Aged / Brain / Brain Ischemia / Cerebral Hemorrhage / Diffusion Magnetic Resonance Imaging / Echo-Planar Imaging / Female / Humans / Image Processing, Computer-Assisted / Injections, Intravenous / Male / Middle Aged / Recombinant Proteins / Stroke / Thrombolytic Therapy / Tissue Plasminogen Activator
(出版サイトへのリンク): ● Publication site (DOI): 10.1159/000306644
(文献検索サイトへのリンク): ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 20375500; ● Search Scopus @ Elsevier (PMID): 20375500; ● Search Scopus @ Elsevier (DOI): 10.1159/000306644

(DOI: 10.1159/000306644, PubMed: 20375500) Naoko Matsui, Yuishin Izumi, Hiroyuki Azuma and Ryuji Kaji :
Neurological manifestations in hereditary hemorrhagic telangiectasia type 1: a familial case in Japan,
Journal of Tokushima National Hospital, Vol.2010, No.1, 11-14, 2010.

(キーワード): Hereditary hemorrhagic telangiectasia (HHT) / HHT type 1 (HHT1) / endoglin / pulmonary arteriovenous malformations (PAVMs) / cerebroarteriovenous malformations (CAVMs)
(文献検索サイトへのリンク): ● CiNii @ 国立情報学研究所 (CRID): 1523106605998613120

(CiNii: 1523106605998613120) 宮﨑由道, 向井洋平, 浅沼光太郎, 和泉唯信, 梶龍兒 :
脳死様状態を呈したGuillain-Barre症候群の1例,
臨床脳波, Vol.52, No.2, 123-125, 2010年.

(要約): 脳死様状態を呈した劇症型GBSの症例を救命しえた．GBSの中に，急性に脳死様状態を呈し，α昏睡をきたす劇症型GBSの一群の存在が示唆された．脳死様状態を呈する劇症型GBSでは死亡症例も多く，厳重な全身管理が必要である．(著者抄録)
(キーワード): Immunoglobulins(治療的利用) アルファリズム活動電位血漿交換 *脳死(病因,診断,治療) 脳幹聴覚誘発電位 *Guillain-Barre症候群(合併症,診断,治療) 絞扼反射閉じ込め症候群(病因,診断,治療) 神経伝導速度ヒト高齢者(65~79) 男
(文献検索サイトへのリンク): ● CiNii @ 国立情報学研究所 (CRID): 1521417755873818112

(CiNii: 1521417755873818112) Yoshimichi Miyazaki, Ai Miyashiro, Yoshimitsu Simatani, Naoko Matsui, Koutaro Asanuma, Yuishin Izumi and Ryuji Kaji :
A case of cryptococcal meningitis successfully treated with liposomal amphotericin-B, Fulcytosine, and Voriconazole,
Journal of Tokushima National Hospital, Vol.1, 31-34, 2010.

(要約): クリプトコッカス性髄膜炎の59歳男性症例について検討した．発熱と頭痛を主訴とし，風邪と診断さたが，嘔吐，意識障害，歩行困難の症状が出現し，発症から16日目に入院となった．入院時に意識障害と強い傾眠傾向が認められた．右眼の対光反射が鈍く，瞳孔径の左右差が認められた．顕著な頸部硬直も認められた．ウイルス関連抗原抗体は陰性であった．脳脊髄液はキサントクロミーを呈しており，脳脊髄液圧，脳脊髄液中の細胞数と蛋白濃度の上昇，脳脊髄液中の糖濃度低下が認められた．May-Giemsa染色および墨汁染色では莢膜を有する菌体が多数確認された．Cryptococcus抗原の256倍上昇が示された．頭部のガドリニウム造影MRI検査で脳溝に沿った造影像を認めた．クリプトコッカス性髄膜炎と診断し，liposomal amphotericin-Bおよびfulcytosineによる2剤療法を開始した．臨床検査結果および脳脊髄液検査結果は徐々に改善したが，入院45日目に左顔面麻痺が出現した．MRI検査から新しい病変が確認され，造影MRI検査で造影病変の拡大を認めた．Voriconazole追加による3剤療法を開始した．脳脊髄液検査結果および臨床症状の改善を示し，入院180日目に退院となった．左顔面麻痺も徐々に改善した．
(キーワード): *Amphotericin B(治療的利用,毒性・副作用) *Flucytosine(治療的利用) Gadolinium(診断的利用) 真菌抗原(血液) MRI 多剤併用療法低カリウム血症(化学的誘発) 髄液 *髄膜炎-クリプトコッカス(薬物療法) *Voriconazole(治療的利用) 髄液検査ヒト中年(45~64) 男
(文献検索サイトへのリンク): ● CiNii @ 国立情報学研究所 (CRID): 1523951030929400320

(CiNii: 1523951030929400320) 宇野昌明, 森田奈緒美, 原田雅史, 和泉唯信, 中根俊成, 永廣信治 :
Stroke MRIと血栓溶解療法,
脳と循環, Vol.13, No.2, 125-132, 2008年. 宇野昌明, 鈴江淳彦, 西京子, 森田奈緒美, 原田雅史, 和泉唯信, 中根俊成, 永廣信治 :
徳島大学病院stroke centerでの脳卒中医療の現状 -特にstroke MRIの有用性-,
脳卒中の外科, Vol.35, No.6, 427-431, 2007年.

(要約): After the stroke care unit of Tokushima University hospital was established in November 1999, stroke MRI (diffusion-, perfusion-weighted image, MRA) was performed to initially evaluate stroke patients, except for SAH. Since April 2004, 3 tesla MRI has been used for stroke MRI, and T2^* weighted image was added to routine study of stroke MRI. 3 tesla stroke MRI can reduce examination time and also take functional MR images, which yield important information for diagnosis and treatment decisions. The combination of our stroke center and rehabilitation hospital is a key factor in improving patients' outcomes for acute rehabilitation and improving quality of life.
(キーワード): stroke / strobe care unit / MRI
(出版サイトへのリンク): ● Publication site (DOI): 10.2335/scs.35.427
(文献検索サイトへのリンク): ● CiNii @ 国立情報学研究所 (CRID): 1571135652241229952; ● Search Scopus @ Elsevier (DOI): 10.2335/scs.35.427

(DOI: 10.2335/scs.35.427, CiNii: 1571135652241229952) 河北直也, 藤田浩司, 三ツ井貴夫, 和泉唯信, 鈴江淳彦, 宇野昌明, 佐藤浩一, 永廣信治, 山田博胤, 森田奈緒美, 梶龍兒 :
3 Tesla T2 *強調MRIで中大脳動脈内塞栓子を呈した若年性脳塞栓症の1例,
脳卒中, Vol.29, No.3, 469-473, 2007年.

(キーワード): cerebral embolism / 3 Tesla T2^*-weighted image / patent foramen ovale / atrial septal aneurysm
(出版サイトへのリンク): ● Publication site (DOI): 10.3995/jstroke.29.469
(文献検索サイトへのリンク): ● CiNii @ 国立情報学研究所 (CRID): 1573387451037736320; ● Search Scopus @ Elsevier (DOI): 10.3995/jstroke.29.469

(DOI: 10.3995/jstroke.29.469, CiNii: 1573387451037736320) 宇野昌明, 原田雅史, 森田奈緒美, 西京子, 松原俊二, 中根俊成, 和泉唯信, 藤田浩司, 永廣信治 :
3T-MRIによるstroke MRIの有用性と問題点,
脳卒中, Vol.29, No.6, 824-829, 2007年.

(出版サイトへのリンク): ● Publication site (DOI): 10.3995/jstroke.29.824
(文献検索サイトへのリンク): ● Search Scopus @ Elsevier (DOI): 10.3995/jstroke.29.824

(DOI: 10.3995/jstroke.29.824) 松井尚子, 中根俊成, 和泉唯信, 永廣信治, 西田善彦, 梶龍兒 :
健常者に発症し治療に難渋したクリプトコッカス髄膜脳炎の1例,
神経治療学, Vol.24, 497-502, 2007年. 原田雅史, 森田奈緒美, 西谷弘, 宇野昌明, 永廣信治, 中根俊成, 和泉唯信, 梶龍兒 :
1.5 Tesla Stroke Unit MRI: 画像診断の新展開,
分子脳血管病, Vol.6, 258-263, 2007年. H Morino, Toshitaka Kawarai, Yuishin Izumi, T Kazuta, M Oda, O Komure, F Udaka, M Kameyama, S Nakamura and H Kawakami :
A single nucleotide polymorphism of dopamine transporter gene is associated with Parkinson's disease.,
Annals of Neurology, Vol.47, No.4, 528-531, 2000.

(要約): We identified two polymorphisms out of all coding regions of the dopamine transporter gene. One existed in exon 9 (1215A/G) and another in exon 15 (1898T/C). The 1215G was significantly less frequent among patients with Parkinson's disease than the controls. Although the polymorphism caused no amino acid substitution, we concluded that it was associated with decreasing the susceptibility to Parkinson's disease through mechanisms other than the protein function of dopamine transporter.
(キーワード): Aged / Carrier Proteins / DNA Mutational Analysis / Dopamine Plasma Membrane Transport Proteins / Electrophoresis, Capillary / Exons / Female / Humans / Linkage Disequilibrium / Male / Membrane Glycoproteins / Membrane Transport Proteins / Middle Aged / Nerve Tissue Proteins / Parkinson Disease / Polymorphism, Single Nucleotide / Polymorphism, Single-Stranded Conformational
(文献検索サイトへのリンク): ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 10762168; ● Search Scopus @ Elsevier (PMID): 10762168

(PubMed: 10762168)

MISC

和泉唯信 :
巻頭言 Next Stage,
老年精神医学雑誌, Vol.34, No.7, 623-624, 2023年. 和泉唯信 :
筋萎縮性側索硬化症の病態解明・治療法開発への試み,
四国医学雑誌, Vol.78, No.1-2, 45-50, 2022年.

(要約): I graduated from Tokushima University in 1995 and trained at Hiroshima University and Sumitomo Hospital. In2000, Professor Ryuji Kaji was appointed as the first professor of the Department of Neurology, Tokushima University. In 2001, I graduated from Hiroshima University Graduate School and returned to Tokushima University. At the Department of Neurology, Tokushima University, we have been investigating natural history, neurophysiology including neuromuscular sonology, MRI, liquid biomarkers, genes, neuropathology, iPS cells, and new treatments as research on amyotrophic lateral sclerosis(ALS)(Tokushima ALS Research). We have examined the effect of methylcobalamin on ALS as a new therapeutic candidate. A phase Ⅲ study, Japanese Early-stage Trial of ultra-high dose methylcobalamin for ALS(JETALS), was carried out. Patients with ALS diagnosed within1year of onset by the updated Awaji criteria were initially enrolled. Of those, patients fulfilling the following criteria after12‐week observation were eligible for randomization :1- or 2-point decrease in ALS Functional Rating Scale Revised (ALSFRS-R)total score, a percent forced vital capacity over 60%, no history of noninvasive respiratory support and tracheostomy, and being ambulant. Methylcobalamin 50 mg or placebo was intramuscularly injected twice weekly for 16 weeks. The primary endpoint was change in ALSFRS-R total score from baseline to week 16. As a result, the least-squares mean difference in ALSFRS-R total score at week 16 of the randomized period was 1．97 points greater with methylcobalamin than placebo. The incidence of adverse events was similar between the two groups. In the future, we plan to work on elucidating the pathophysiology of ALS, developing more powerful treatments for ALS, and dealing with non-motor symptoms of ALS.
(キーワード): amyotrophic lateral sclerosis / ALS / methylcobalamin
(文献検索サイトへのリンク): ● CiNii @ 国立情報学研究所 (CRID): 1520574181164653696

(CiNii: 1520574181164653696) 和泉唯信, 沖良祐, 桑原聡, 梶龍兒 :
【ALS 2019】メコバラミン,
神経研究の進歩, Vol.71, No.11, 1261-1269, 2019年.

(文献検索サイトへのリンク): ● CiNii @ 国立情報学研究所 (CRID): 1523951030731320960

(CiNii: 1523951030731320960) 高松直子, 寺澤由佳, 佐藤健太, 和泉唯信, 梶龍兒 :
ALSの超音波所見,
神経超音波医学, Vol.23, 58, 2010年.

(キーワード): *筋萎縮性側索硬化症(超音波診断); 超音波診断; 脊髄神経根(超音波診断) / ヒト (Homo sapiens)

寺澤由佳, 高松直子, 佐藤健太, 和泉唯信, 梶龍兒 :
CIDPにおける頸部脊髄神経根内のHiS sign,
神経超音波医学, Vol.23, 58, 2010年.

(キーワード): 頸椎(超音波診断); 超音波診断; *脊髄神経根(超音波診断); *多発性根神経障害-慢性炎症性脱髄性(超音波診断) / ヒト; 男; 女

坂東美佳, 山本伸昭, 寺澤由佳, 和泉唯信, 梶龍兒, 里見淳一郎, 永廣信治 :
進行性に増悪をきたし血管内治療を施行した右内頸動脈閉塞の1例,
四国医学雑誌, Vol.66, No.3-4, 101-106, 2010年.

(キーワード): *頸動脈疾患(画像診断,外科的療法); MRI; 超音波診断; ステント; SPECT; *動脈閉塞性疾患(画像診断,外科的療法); *内頸動脈(画像診断,外科的療法); 脳血管造影; 血管形成術; 病勢悪化 / ヒト; 高齢者(65∼79); 男
(徳島大学機関リポジトリ): ● Metadata: 110323

(徳島大学機関リポジトリ: 110323) Yoshiko Shibuta, Hiroyuki Nodera, Atsuko Nodera, Takahiro Okita, Kotaro Asanuma, Yuishin Izumi and Ryuji Kaji :
Utility of recovery cycle with two conditioning pulses for detection of impaired axonal slow potassium current in ALS.,
Clinical Neurophysiology, Vol.121, No.12, 2117-2120, 2010.

(要約): Slow potassium current (I(Ks)) is important in controlling nerve excitability and its impairment is known in various neurological diseases, including amyotrophic lateral sclerosis (ALS). I(Ks) gives rise to the late subexcitability phase of the recovery cycle, which can be amplified by the use of multiple conditioning pulses. The clinical utility of this technique has not previously been explored.
(キーワード): Action Potentials / 成人教育経営 (adult education administration) / Aged / Aged, 80 and over / Amyotrophic Lateral Sclerosis / Axons / Case-Control Studies / Electric Stimulation / Electromyography / Female / Humans / Male / Middle Aged / Potassium Channels
(出版サイトへのリンク): ● Publication site (DOI): 10.1016/j.clinph.2010.05.015
(文献検索サイトへのリンク): ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 20538517; ● Search Scopus @ Elsevier (PMID): 20538517; ● Search Scopus @ Elsevier (DOI): 10.1016/j.clinph.2010.05.015

(DOI: 10.1016/j.clinph.2010.05.015, PubMed: 20538517) 高井繁美, 楊河宏章, 宮本登志子, 明石晃代, 井上弘美, 久米亜紀子, 田島壮一郎, 佐藤千穂, 西条伴香, 井本淳一郎, 鈴木あかね, 山上真樹子, 浦川典子, 下村智子, 片島るみ, 苛原稔, 和泉唯信, 梶龍兒, 西田善彦, 橋本和典, 近藤彰, 櫻木章司, 宇都宮正登, 川島周, 徳島治験ネットワーク :
「徳島治験ネットワーク」における治験の共同実施について国際共同治験実施の現状,
四国医学雑誌, Vol.66, No.1-2, 48, 2010年.

(キーワード): 国際協力; 神経系疾患(治療); 精神障害(治療); *臨床試験; 治験コーディネーター / Site Management Organization / ヒト (Homo sapiens)

Wataru Sako, Nagahisa Murakami, Yoshimichi Miyazaki, Yuishin Izumi and Ryuji Kaji :
On-period unified Parkinson's disease rating scale before surgery correlates with differences in outcomes between pallidal and subthalamic stimulation: a meta-analysis.,
Neurological Sciences, Vol.37, No.1, 135-137, 2015.

(出版サイトへのリンク): ● Publication site (DOI): 10.1007/s10072-015-2376-x
(文献検索サイトへのリンク): ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 26335017; ● Summary page in Scopus @ Elsevier: 2-s2.0-84955645742

(DOI: 10.1007/s10072-015-2376-x, PubMed: 26335017, Elsevier: Scopus) Ryosuke Miyamoto, Toshitaka Kawarai, Ryosuke Oki, Shinichi Matsumoto, Yuishin Izumi and Ryuji Kaji :
Lack of C9orf72 expansion in 406 sporadic and familial cases of idiopathic dystonia in Japan.,
Movement Disorders, Vol.30, No.10, 1430-1431, 2015.

(キーワード): dystonia / C9orf72 / prevalence of mutation / expansion mutation
(出版サイトへのリンク): ● Publication site (DOI): 10.1002/mds.26310
(文献検索サイトへのリンク): ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 26173439; ● Summary page in Scopus @ Elsevier: 2-s2.0-84941136467

(DOI: 10.1002/mds.26310, PubMed: 26173439, Elsevier: Scopus) Ryosuke Miyamoto, Hidetaka Koizumi, Hiroyuki Morino, Toshitaka Kawarai, Hirofumi Maruyama, Yohei Mukai, Ai Miyashiro, Wataru Sako, Yuishin Izumi, Hideshi Kawakami and Ryuji Kaji :
DYT6 in Japan-genetic screening and clinical characteristics of the patients.,
Movement Disorders, Vol.29, No.2, 278-280, 2013.

(出版サイトへのリンク): ● Publication site (DOI): 10.1002/mds.25745
(文献検索サイトへのリンク): ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 24227593; ● Summary page in Scopus @ Elsevier: 2-s2.0-84894236517

(DOI: 10.1002/mds.25745, PubMed: 24227593, Elsevier: Scopus) Toshio Inui, Toshitaka Kawarai, Koji Fujita, Kazuyuki Kawamura, Takao Mitsui, Antonio Orlacchio, Masaki Kamada, Takashi Abe, Yuishin Izumi and Ryuji Kaji :
A new CSF1R mutation presenting with an extensive white matter lesion mimicking primary progressive multiple sclerosis.,
Journal of the Neurological Sciences, 2013.

(要約): HDLS (Hereditary Diffuse Leukodystrophy with Spheroids) is a hereditary leukodystrophy whose main clinical manifestations include parkinsonism, spasticity, and ataxia. Genetic defects in the colony-stimulating factor 1 receptor (CSF1R) gene have been reported in many HDLS cases. The present report describes a new missense mutation Arg777Gln involving exon 18 of the CSF1R gene in a sporadic patient presenting with tumor-like lesions mimicking primary progressive multiple sclerosis. The patient was initially diagnosed with a progressive variant of multiple sclerosis and received inadequate treatments. Although most HDLS cases have a positive family history, this disease should also be suspected in sporadic patients showing unusual white matter lesions at MRI.
(出版サイトへのリンク): ● Publication site (DOI): 10.1016/j.jns.2013.08.020
(文献検索サイトへのリンク): ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 24034409; ● Search Scopus @ Elsevier (PMID): 24034409; ● Search Scopus @ Elsevier (DOI): 10.1016/j.jns.2013.08.020

(DOI: 10.1016/j.jns.2013.08.020, PubMed: 24034409) 瓦井俊孝, 佐治直樹, 寺澤英夫, 清水洋孝, 喜多也寸志, 田嶋敦, 井本逸勢, 和泉唯信, 梶龍兒 :
精神発育遅滞を伴う家族性小脳変性症の臨床遺伝学的研究の具体的事例,
難病と在宅ケア, Vol.18, No.8, 45-47, 2012年. Koji Fujita, Mari Yoshida, Wataru Sako, Kouji Maeda, Yoshio Hashizume, Satoshi Goto, Gen Sobue, Yuishin Izumi and Ryuji Kaji :
Brainstem and spinal cord motor neuron involvement with optineurin inclusions in proximal-dominant hereditary motor and sensory neuropathy,
Journal of Neurology, Neurosurgery, and Psychiatry, Vol.82, No.12, 1402-1403, 2011.

(キーワード): Brain Stem / Hereditary Sensory and Motor Neuropathy / Humans / Inclusion Bodies / 男性 (male) / Middle Aged / Motor Neurons / 脊髄 (spinal cord) / Transcription Factor TFIIIA
(出版サイトへのリンク): ● Publication site (DOI): 10.1136/jnnp-2011-300783
(文献検索サイトへのリンク): ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 21836032; ● Summary page in Scopus @ Elsevier: 2-s2.0-80855123814

(DOI: 10.1136/jnnp-2011-300783, PubMed: 21836032, Elsevier: Scopus) Hirofumi Maruyama, Hiroyuki Morino, Hidefumi Ito, Yuishin Izumi, Hidemasa Kato, Yasuhito Watanabe, Yoshimi Kinoshita, Masaki Kamada, Hiroyuki Nodera, Hidenori Suzuki, Osamu Komure, Shinya Matsuura, Keitaro Kobatake, Nobutoshi Morimoto, Koji Abe, Naoki Suzuki, Masashi Aoki, Akihiro Kawata, Takeshi Hirai, Takeo Kato, Kazumasa Ogasawara, Asao Hirano, Toru Takumi, Hirofumi Kusaka, Koichi Hagiwara, Ryuji Kaji and Hideshi Kawakami :
Mutations of optineurin in amyotrophic lateral sclerosis.,
Nature, Vol.465, No.7295, 223-226, 2010.

(要約): Amyotrophic lateral sclerosis (ALS) has its onset in middle age and is a progressive disorder characterized by degeneration of motor neurons of the primary motor cortex, brainstem and spinal cord. Most cases of ALS are sporadic, but about 10% are familial. Genes known to cause classic familial ALS (FALS) are superoxide dismutase 1 (SOD1), ANG encoding angiogenin, TARDP encoding transactive response (TAR) DNA-binding protein TDP-43 (ref. 4) and fused in sarcoma/translated in liposarcoma (FUS, also known as TLS). However, these genetic defects occur in only about 20-30% of cases of FALS, and most genes causing FALS are unknown. Here we show that there are mutations in the gene encoding optineurin (OPTN), earlier reported to be a causative gene of primary open-angle glaucoma (POAG), in patients with ALS. We found three types of mutation of OPTN: a homozygous deletion of exon 5, a homozygous Q398X nonsense mutation and a heterozygous E478G missense mutation within its ubiquitin-binding domain. Analysis of cell transfection showed that the nonsense and missense mutations of OPTN abolished the inhibition of activation of nuclear factor kappa B (NF-kappaB), and the E478G mutation revealed a cytoplasmic distribution different from that of the wild type or a POAG mutation. A case with the E478G mutation showed OPTN-immunoreactive cytoplasmic inclusions. Furthermore, TDP-43- or SOD1-positive inclusions of sporadic and SOD1 cases of ALS were also noticeably immunolabelled by anti-OPTN antibodies. Our findings strongly suggest that OPTN is involved in the pathogenesis of ALS. They also indicate that NF-kappaB inhibitors could be used to treat ALS and that transgenic mice bearing various mutations of OPTN will be relevant in developing new drugs for this disorder.
(キーワード): Adolescent / Adult / Aged / Aged, 80 and over / Amino Acid Sequence / Amyotrophic Lateral Sclerosis / Asian Continental Ancestry Group / Base Sequence / 子ども (children) / Codon, Nonsense / Consanguinity / Cytoplasm / DNA-Binding Proteins / Exons / Female / Humans / 近代日本 (modern Japan) / Male / Middle Aged / Mutant Proteins / Mutation / Mutation, Missense / NF-kappa B / Pedigree / Polymorphism, Single Nucleotide / Protein Transport / Sequence Deletion / Superoxide Dismutase / Transcription Factor TFIIIA / Young Adult
(出版サイトへのリンク): ● Publication site (DOI): 10.1038/nature08971
(文献検索サイトへのリンク): ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 20428114; ● Search Scopus @ Elsevier (PMID): 20428114; ● Search Scopus @ Elsevier (DOI): 10.1038/nature08971

(DOI: 10.1038/nature08971, PubMed: 20428114)

総説・解説

山﨑博輝, 髙松直子, 和泉唯信 :
検査から見る神経疾患横隔膜のエコー検査,
Clinical Neuroscience, Vol.41, No.9, 1244-1246, 2023年9月. 和泉唯信 :
⑤神経難病4)筋萎縮性側索硬化症,
BRAIN NURSING 2023年夏季増刊急性期から在宅まで活用できる!! 脳神経内科疾患と看護，平野照之監修, 146-148, 2023年8月. 松井尚子, 大東いずみ, 和泉唯信 :
重症筋無力症と胸腺摘出,
脳神経内科, Vol.98, No.6, 823-828, 2023年6月. 松井尚子, 田中恵子, 和泉唯信 :
スティッフパーソン症候群,
脳と神経 - 神経研究の進歩, Vol.75, No.6, 749-754, 2023年6月.

(文献検索サイトへのリンク): ● CiNii @ 国立情報学研究所 (CRID): 1520578282911297280

(CiNii: 1520578282911297280) 松井尚子, 和泉唯信 :
多巣性運動ニューロパチー(MMN),
最新ガイドラインに基づく神経疾患診療指針, 337-340, 2023年5月. 和泉唯信, 沖良祐, 桑原聡, 梶龍兒 :
【ALS-どこまでわかり,どこまで治るか】現在の治療とケア高用量メチルコバラミン,
Clinical Neuroscience, Vol.41, No.3, 388-391, 2023年3月. 今村恵子, 和泉唯信, 髙橋良祐, 井上治久 :
【ALS-どこまでわかり,どこまで治るか】開発中の治療ボスチニブ-ALSに対するSrc/c-Ab1阻害薬の動向,
Clinical Neuroscience, Vol.41, No.3, 408-411, 2023年3月. 和泉唯信, 鎌田正紀, 梶龍兒 :
【日本発の神経疾患-発見の歴史からのメッセージ】遺伝性疾患 Optineurin 臨床の歴史,
Clinical Neuroscience, Vol.41, No.1, 92-94, 2023年1月. 大崎裕亮, 和泉唯信 :
ニューロパチーからみたRFC1遺伝子関連スペクトラム障害,
脳と神経 - 神経研究の進歩, Vol.74, No.11, 1281-1286, 2022年11月.

(出版サイトへのリンク): ● Publication site (DOI): 10.11477/mf.1416202228
(文献検索サイトへのリンク): ● CiNii @ 国立情報学研究所 (CRID): 1390012556788804992; ● Search Scopus @ Elsevier (DOI): 10.11477/mf.1416202228

(DOI: 10.11477/mf.1416202228, CiNii: 1390012556788804992) 松井尚子, 田中恵子, 和泉唯信 :
Stiff-person syndrome, Progressive encephalomyelitis with rigidity and myoclonus,
免疫性神経疾患(第2版), Vol.80, No.5, 355-360, 2022年5月. 和泉唯信 :
筋萎縮性側索硬化症,
今日の治療指針私はこう治療している Today's Theraphy 2022，福井次矢他編, 337-340, 2022年1月. 和泉唯信, 高原実香, 丸山博文 :
認知機能低下,
medicina, Vol.50, No.4 suppl, 337-340, 2022年. 山﨑博輝, 高松直子, 和泉唯信 :
圧迫性神経障害，慢性炎症性脱髄性多発神経炎,
Clinical Neuroscience, Vol.40, No.2, 186-191, 2022年. 沖良祐, 藤田浩司, 和泉唯信, 梶龍兒 :
高用量メチルコバラミン,
難病と在宅ケア, Vol.27, No.4, 10-14, 2021年7月.

(文献検索サイトへのリンク): ● CiNii @ 国立情報学研究所 (CRID): 1521417756163133440

(CiNii: 1521417756163133440) 和泉唯信, 藤田浩司 :
筋萎縮性側索硬化症(ALS)治療の現状と目指すべきもの,
難病と在宅ケア, Vol.27, No.4, 5-9, 2021年7月.

(文献検索サイトへのリンク): ● CiNii @ 国立情報学研究所 (CRID): 1524232505930155904

(CiNii: 1524232505930155904) 大崎裕亮, 和泉唯信 :
ALSの診断基準:Awaji基準までの変遷を中心に,
難病と在宅ケア, Vol.27, No.3, 40-44, 2021年6月.

(文献検索サイトへのリンク): ● CiNii @ 国立情報学研究所 (CRID): 1523669555953827840

(CiNii: 1523669555953827840) 大崎裕亮, 高松直子, 和泉唯信 :
筋電図検査における検査技師の役割は何か(医師の立場から),
臨床神経生理学, Vol.49, No.2, 85-88, 2021年4月.

(要約): 筋電図検査は患者個別に最適化を要し, その最適化には検査特性や神経筋疾患の病態に関する専門的知識が求められる．筋電図検査が神経筋疾患の診療に有効であるためには, 少なくとも専門知識を持った監督者が検査実施現場に配置される必要がある．その監督業務を担うための技能取得が, 今後ますます検査技師に求められていく可能性がある．厚生労働省はタスク・シフティング等医療勤務環境改善推進事業において, 検査業務を医師から技師に移していく方針を掲げているためである．本稿では, 筋電図検査における検査技師の役割は何かという問いに対して本学会内での議論を活発化させることを目的として, 筋電図検査実施体制について当院での体制を例示し, 現状とタスク・シフトが求められている時流を踏まえた理想像について述べる．
(出版サイトへのリンク): ● Publication site (DOI): 10.11422/jscn.49.85
(文献検索サイトへのリンク): ● CiNii @ 国立情報学研究所 (CRID): 1390006076308478976; ● Search Scopus @ Elsevier (DOI): 10.11422/jscn.49.85

(DOI: 10.11422/jscn.49.85, CiNii: 1390006076308478976) 伊藤聖, 織田雅也, 和泉唯信 :
特集認知症治療の新展開 Ⅶ．中山間地での連携型認知症疾患医療センター,
日本内科学会雑誌, Vol.109, No.8, 1546-1551, 2020年8月.

(キーワード): 認知症疾患医療センター / 専門医療相談 / 鑑別診断 / 医療連携
(出版サイトへのリンク): ● Publication site (DOI): 10.2169/naika.109.1546
(文献検索サイトへのリンク): ● CiNii @ 国立情報学研究所 (CRID): 1390007515115314688; ● Search Scopus @ Elsevier (DOI): 10.2169/naika.109.1546

(DOI: 10.2169/naika.109.1546, CiNii: 1390007515115314688) 和泉唯信, 臼木貴子, 宮内吉男 :
特集認知症治療の新展開 Ⅵ．認知症初期集中支援チーム,
日本内科学会雑誌, Vol.109, No.8, 1539-1545, 2020年8月.

(キーワード): 認知症初期集中支援チーム / 新オレンジプラン
(出版サイトへのリンク): ● Publication site (DOI): 10.2169/naika.109.1539
(文献検索サイトへのリンク): ● CiNii @ 国立情報学研究所 (CRID): 1390007515115738752; ● Search Scopus @ Elsevier (DOI): 10.2169/naika.109.1539

(DOI: 10.2169/naika.109.1539, CiNii: 1390007515115738752) 山本雄貴, 和泉唯信 :
【放射線科医が知っておくべき脳血管障害診療 update】静脈洞血栓症を見落とさないための症候と画像所見の特徴,
臨床画像, Vol.36, No.4, 110-119, 2020年4月.

(出版サイトへのリンク): ● Publication site (DOI): 10.18885/ci.0000000271
(文献検索サイトへのリンク): ● CiNii @ 国立情報学研究所 (CRID): 1390853649427687680; ● Search Scopus @ Elsevier (DOI): 10.18885/ci.0000000271

(DOI: 10.18885/ci.0000000271, CiNii: 1390853649427687680) 和泉唯信, 沖良祐, 梶龍兒 :
【ALS(筋萎縮性側索硬化症)治療の最前線】ALSの早期診断法開発と臨床試験,
医学のあゆみ, Vol.272, No.6, 517-521, 2020年2月.

(キーワード): 筋萎縮性側索硬化症(ALS) / メコバラミン / 医師主導治験 / updatedAwaji基準
(文献検索サイトへのリンク): ● CiNii @ 国立情報学研究所 (CRID): 1524232505765577856

(CiNii: 1524232505765577856) 山﨑博輝, 高松直子, 和泉唯信 :
異常筋萎縮,
Clinical Neuroscience, Vol.38, No.11, 1446-1448, 2020年. 和泉唯信, 島かさ音, 藤田浩司 :
神経疾患治療ノートビタミンB12欠乏,
Clinical Neuroscience, Vol.38, No.4, 510-512, 2020年. 沼田周助, 宮本亮介, 和泉唯信 :
ファール病,
精神科治療学増刊号知っておきたい稀な精神症候・症候群―症例から学ぶ―, Vol.34, 307-309, 2019年10月. 和泉唯信, 沖良祐, 今村惠子, 井上治久, 梶龍兒 :
新しい薬剤によるALSの治療戦略について,
難病と在宅ケア, Vol.25, No.5, 13-18, 2019年8月.

(文献検索サイトへのリンク): ● CiNii @ 国立情報学研究所 (CRID): 1523669555900181888

(CiNii: 1523669555900181888) 和泉唯信, 沖良祐, 梶龍兒 :
ALSに対する治験の最新情報-2 高用量E0302の筋萎縮性側索硬化症に対する第III相試験,
神経治療学, Vol.36, No.4, 465-470, 2019年7月. 高松直子, 野寺裕之, 和泉唯信 :
始めてみよう!神経筋超音波,
神経治療学, Vol.36, No.3, 176-182, 2019年.

(出版サイトへのリンク): ● Publication site (DOI): 10.15082/jsnt.36.3_176
(文献検索サイトへのリンク): ● CiNii @ 国立情報学研究所 (CRID): 1390845702326300928; ● Search Scopus @ Elsevier (DOI): 10.15082/jsnt.36.3_176

(DOI: 10.15082/jsnt.36.3_176, CiNii: 1390845702326300928) 和泉唯信, 山本伸昭 :
【健康長寿を目指して】脳卒中，認知症にならないために,
四国医学雑誌, Vol.75, No.1-2, 17-22, 2019年.

(文献検索サイトへのリンク): ● CiNii @ 国立情報学研究所 (CRID): 1050020697876206592

(CiNii: 1050020697876206592) 和泉唯信, 沖良祐, 桑原聡, 梶龍兒 :
高用量E0302 の筋萎縮性側索硬化症に対する第Ⅲ相試験,
神経治療学, Vol.36, 465-470, 2019年.

(出版サイトへのリンク): ● Publication site (DOI): 10.15082/jsnt.36.4_465
(文献検索サイトへのリンク): ● CiNii @ 国立情報学研究所 (CRID): 1390848250106299648; ● Search Scopus @ Elsevier (DOI): 10.15082/jsnt.36.4_465

(DOI: 10.15082/jsnt.36.4_465, CiNii: 1390848250106299648) 石田光代, 松井尚子, 高橋美和, 杉原治美, 和泉唯信, 西田善彦, 梶龍兒 :
就労可能な神経難病患者における共通特性の検討,
日本難病医療ネットワーク学会機関誌, Vol.5, No.2, 50-55, 2018年11月. 瓦井俊孝, 宮本亮介, 村上永尚, 小泉英貴, 小泉英貴, 佐光亘, 向井洋平, 佐藤健太, 松本真一, 坂本崇, 和泉唯信, 梶龍兒 :
ジストニア遺伝子とその機能解明,
臨床神経学, Vol.53, No.6, 419-429, 2013年6月.

(要約): Identification of causative genes for hereditary dystonia and elucidation of their functions are crucial for better understanding of dystonia pathogenesis. As seen in other hereditary neurologic disorders, intra- and inter-familial clinical variations have been demonstrated in hereditary dystonia. Asymptomatic carriers can be found due to alterations in penetrance, generally reduced in succeeding generations. Current known dystonia genes include those related to dopamine metabolism, transcription factor, cytoskeleton, transport of glucose and sodium ion, etc. It has been reported that effects of deep brain stimulation can vary significantly depending on genotype. Accumulation of genotype-outcome correlations would contribute to treatment decisions for dystonia patients.
(キーワード): ジストニア / 病因
(出版サイトへのリンク): ● Publication site (DOI): 10.5692/clinicalneurol.53.419
(文献検索サイトへのリンク): ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 23782819; ● Summary page in Scopus @ Elsevier: 2-s2.0-84879578823

(DOI: 10.5692/clinicalneurol.53.419, PubMed: 23782819, Elsevier: Scopus) 藤田浩司, 和泉唯信, 梶龍兒 :
[Inflammatory mechanisms in amyotrophic lateral sclerosis].,
脳と神経 - 神経研究の進歩, Vol.64, No.3, 273-278, 2012年3月.

(要約): Neuroinflammation is a pathological hallmark in human amyotrophic lateral sclerosis (ALS) patients and in the transgenic models of the disease. The importance of glial cell activation and pro-inflammatory cytokines in ALS has been confirmed by numerous studies. For instance, tumor necrosis factor- (TNF-), a major pro-inflammatory cytokine, activates microglia and cause neurotoxicity in motor neurons. More recently, the relationship of nuclear factor-B (NF-B) and motor neuron degeneration has garnered attention since optineurin (OPTN) mutations were reported in familial ALS. OPTN negatively regulates TNF--induced NF-B activation, but OPTN mutations can lead to dysinhibition of NF-B-induced neurotoxicity. Notably, OPTN-positive inclusions are observed not only in familial ALS with OPTN mutation but also in sporadic ALS and in familial ALS with SOD1 and fused in sarcoma mutations, suggesting that OPTN- and NF-B-related pathways are relevant to the general pathomechanisms of ALS. In this review, we discuss inflammatory aspects of ALS comprising the roles of cytokines, glial cells, and T cells.
(キーワード): Amyotrophic Lateral Sclerosis / Animals / Chemokines / 細胞質分裂 (cytokinesis) / Humans / 炎症 (inflammation) / NF-kappa B / Transcription Factor TFIIIA
(文献検索サイトへのリンク): ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 22402721; ● Search Scopus @ Elsevier (PMID): 22402721

(PubMed: 22402721) 織田雅也, 和泉唯信, 梶龍兒 :
家族性ALSの原因遺伝子,
脳と神経 - 神経研究の進歩, Vol.63, No.2, 165-170, 2011年2月.

(要約): Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by progressive muscle weakness that reflects degeneration of motor neurons in the primary motor cortex, corticospinal tracts, brainstem, and spinal cord. Most ALS cases are sporadic, but about 5%-10% are familial. The majority of familial ALS (FALS) cases follow an autosomal dominant inheritance pattern, and include the following mutations: ALS1, Cu/Zn superoxide dismutase (SOD1); ALS3; ALS4, senataxin; ALS6, fused in sarcoma (FUS); ALS7; ALS8, vesicle-associated membrane protein; ALS9, angiogenin; ALS10, TAR DNA-binding protein (TARDBP); and ALS11/FIG4. Some of these gene mutations are rarely seen in sporadic ALS cases. ALS2/alsin and ALS5 show an autosomal recessive inheritance pattern. Recently, mutations in the gene encoding optineurin, earlier reported to be a causative gene for primary open-angle glaucoma, have also been found in patients with ALS. It has also been demonstrated that a mutation in the D-amino acid oxidase gene is associated with classic adult-onset FALS. However, these genetic defects occur in only about 20%-30% FLAS cases, while most genes causing FALS remain unknown.
(キーワード): D-アミノ酸酸化酵素 (D-amino acid oxidase) / DNA-Binding Proteins / Flavoproteins / Pancreatic Ribonuclease / Superoxide Dismutase / 眼球蛋白質 / *筋萎縮性側索硬化症 / 変異 / Guanine Nucleotide Exchange Factors / RNA Helicases / *遺伝的素因(疾患) / RNA-Binding Protein FUS / 小胞輸送蛋白質 / Angiogenin / Alsin / TDP-43 Protein / SETX Protein / VAPB Protein / FIG4 Protein / Mouse Optn Protein / ヒト (Homo sapiens)
(出版サイトへのリンク): ● Publication site (DOI): 10.11477/mf.1416100841
(文献検索サイトへのリンク): ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 21301041; ● CiNii @ 国立情報学研究所 (CRID): 1390002209990929664; ● Search Scopus @ Elsevier (PMID): 21301041; ● Search Scopus @ Elsevier (DOI): 10.11477/mf.1416100841

(DOI: 10.11477/mf.1416100841, PubMed: 21301041, CiNii: 1390002209990929664) 宮崎由道, 高松直子, 宮城愛, 寺澤由佳, 松井尚子, 浅沼光太郎, 和泉唯信, 梶龍兒 :
筋エコーにより筋炎の関与が判明した右房拡張症の一例,
神経超音波医学, Vol.23, 106, 2010年4月.

(キーワード): *筋炎(合併症,超音波診断); *心筋炎(合併症,超音波診断); 超音波診断; *心房(超音波診断) / ヒト; 中年(45∼64); 女

講演・発表

橘このか, 宮本亮介, 武藤浩平, 福本竜也, 松原知康, 山内翔葵, 中森正博, 目崎高広, 向井洋平, 山城正喬, 鈴木啓生, 梶龍兒, 森野豊之, 和泉唯信 :
本邦におけるANO3ジストニア (DYT-ANO3) の臨床的特徴,
第65回日本神経学会学術大会/AOCN2024, 2024年6月. 山内翔葵, 橘このか, 宮本亮介, 村瀬永子, 武藤浩平, 福本竜也, 桑野由紀, Nazere Keyoumu, 梶龍兒, 森野豊之, 和泉唯信 :
本邦におけるVPS16ジストニア (DYT-VPS16) の臨床的特徴,
第65回日本神経学会学術大会/AOCN2024, 2024年6月. Keyoumu Nazere, Konoka Tachibana, Yuki Kuwano, Ryosuke Miyamoto, Ryuji Kaji, Yuishin Izumi and Hiroyuki Morino :
The identification and functional analysis of novel variants in ADCY5- related movement disorders,
第65回日本神経学会学術大会/AOCN2024, May 2024. Yuki Matsumoto, Shotaro Haji, Masafumi Harada, Wataru Sako, Yuki Kanazawa, Yuishin Izumi, Taniguchi Yo, Ono Masaharu and Bito Yoshitaka :
Quantitative Parameter Mapping of Brain Structure and Components in Parkinsons Disease and Progressive Supranuclear Palsy,
RSNA2023 (Radiological Society of North America), Chicago, Nov. 2023. Yusuke Osaki, Hiroyuki Nodera, Ryosuke Miyamoto, Hiroyuki Morino, M Chan, Ryuji Kaji and Yuishin Izumi :
Peripheral nerve excitability abnormality in spinocerebellar ataxia type 6,
Neuroscience 2023, Nov. 2023. Shotaro Haji, Koji Fujita, Ryosuke Oki, Yusuke Osaki, Hiroyuki Morino, S Nagano, N Atsuta, Y Kanazawa, Y Matsumoto, A Arisawa, H Kawai, S Sakaguchi, K Yagi, T Hamatani, M Harada, G Sobue and Yuishin Izumi :
An Exploratoruy Trial of EPI-589 in Amyotrophic Lateral Sclerosis (EPIC-ALS),
Pan-Asian Consortium for Treatment and Research in ALS (PACTALS), Kuala Lumpur, Sep. 2023. Naoko Matsui, Tanaka Keiko, Yamamoto Yohei, Saika Reiko, Iizuka Takahiro, Matsui Makoto, Kokichi Arisawa, Ryuji Kaji, Kuwabara Satoshi and Yuishin Izumi :
Prevalence, clinical profiles, and prognosis of Stiff-person syndrome in Japanese nationwide survey,
The 9th Congress of the European Academy of Neurology (EAN), Jul. 2023. Joji Fujikawa, Ryoma Morigaki, Kazuhisa Miyake, Taku Matsuda, Hiroshi Koyama, Teruo Oda, Nobuaki Yamamoto, Yuishin Izumi, Hideo Mure, Satoshi Goto and Yasushi Takagi :
Cranial geometry in patients with dystonia,
The 13th Scientific meeting of Asian Australasian Society for Stereotactic and Functional Neurosurgery (AASSFN 2023), Osaka, Apr. 2023. NAKANISHI Hiroshi, Ryoma Morigaki, Nobuaki Yamamoto, Joji Fujikawa, Teruo Oda, OMAE Hiroshi, Yuishin Izumi and Yasushi Takagi :
The effect of Rikaba, a hybrid physical exercise salon for Parkinson's disease patients,
The 13th Scientific meeting of Asian Australasian Society for Stereotactic and Functional Neurosurgery (AASSFN 2023), Osaka, Apr. 2023. Inoue Haruhisa, Imamura Keiko, Yuishin Izumi, Nagai Makiko, Nishiyama Kazutoshi, Watanabe Yasuhiro, Hanajima Ritsuko, Egawa Naohiro, Ayaki Takashi, Oki Ryosuke, Koji Fujita, Morinaga Akiko, Hirohashi Tomoko, Fujii Yosuke, Uozumi Ryuji, Morita Satoshi and Takahashi Ryosuke :
A phase I dose escalation study of bosutinib for amyotrophic lateral sclerosis: Induced pluripotent stem cell-based Drug Repurposing for Amyotrophic Lateral Sclerosis Medicine (iDReAM) study,
XXV World Congress of Neurology, Oct. 2021. Yuishin Izumi, Oki Ryosuke, Kuwabara Satoshi and Ryuji Kaji :
Phase 3 trial of Ultra-high dose Methylcobalamin in early-stage amyotrophic lateral sclerosisImpact of spreading covid19 infection,
XXV World Congress of Neurology, Oct. 2021. Yuishin Izumi, Oki Ryosuke, Kuwabara Satoshi and Ryuji Kaji :
Efficacy and Safety of Ultra-high dose Methylcobalamin in Early stage Amyotrophic Lateral Sclerosis: Results of a randomized, double-blind, phase 3 trial (JETALS),
XXV World Congress of Neurology, Oct. 2021. Shotaro Haji, R Oki, Koji Fujita, Yusuke Osaki, S Nagano, N Atsuta, Y Kanazawa, Y Matsumoto, A Arisawa, H Kawai, Y Sato, S Sakaguchi, K Yaki, T Hamatani, Hiroaki Yanagawa, Masafumi Harada, G Sobue and Yuishin Izumi :
EPI-589 early phase 2 investigator-initiated clinical trial for ALS (EPIC-ALS): protocol for an exploratory study,
Pan-Asia Consortium for Treatment and Research in ALS (PACTALS) 2021 NAGOYA, Nagoya, Sep. 2021. R Oki, Yuishin Izumi, Koji Fujita, Y Sato, S Sakaguchi, K Yagi, A Matsushita, K Maeda, Hiroaki Yanagawa and Ryuji Kaji :
Management of phase 3 clinical trial for ALS during the COVID-19 pandemic,
Pan-Asia Consortium for Treatment and Research in ALS (PACTALS) 2021 NAGOYA, Nagoya, Sep. 2021. Hiroki Yamazaki, N Takamatsu, Koji Fukushima, Takeshi Yoshida, Yusuke Osaki and Yuishin Izumi :
Application of nerve ultrasound for early diagnosis of ALS focus on brachial plexus,
Pan-Asia Consortium for Treatment and Research in ALS (PACTALS) 2021 NAGOYA, Nagoya, Sep. 2021. Koji Fukushima, N Takamatsu, Hiroki Yamazaki, Yusuke Osaki, Takeshi Yoshida, K Sugie and Yuishin Izumi :
The specificity of faciculations in brainstem and thoracic region detected by muscle ultrasonography in ALS, A comparative muscle ultrasonographic investigation of 100 ALS patients and 100 non-ALS patients,
Pan-Asia Consortium for Treatment and Research in ALS (PACTALS) 2021 NAGOYA, Nagoya, Sep. 2021. Yuishin Izumi, R Oki, S Kuwabara and Ryuji Kaji :
Safety and efficacy in a randomized, double-bling, phase 3 trial of ultra-high dose methylcobalamin in early-stage patients with ALS,
Pan-Asia Consortium for Treatment and Research in ALS (PACTALS) 2021 NAGOYA, Nagoya, Sep. 2021. Yoshiteru Tada, Toshitaka Fujihara, Kenji Shimada, Nobuaki Yamamoto, Hiroki Yamazaki, Yuishin Izumi, Masafumi Harada, Yasuhisa Kanematsu and Yasushi Takagi :
Peri-ictal normal arterial spin labeling imaging in patients with seizures,
13 回アジア・オセアニアてんかん学会(13th AOEC), Jun. 2021. Yuki Yamamoto, Nobuaki Yamamoto, K Kuroda, Yasuhisa Kanematsu, Masaaki Korai, Kenji Shimada, Yuishin Izumi and Yasushi Takagi :
High White Blood Cell Count is a Risk Factor for Contrast-Induced Nephropathy following Mechanical Thrombectomy,
The 5th European Stroke Organization Conference, ESOC 2019, Milan, May 2019. Nobuaki Yamamoto, Yuki Yamamoto, Masaaki Korai, Kenji Shimada, Yasuhisa Kanematsu, Yuishin Izumi, Yasushi Takagi and Ryuji Kaji :
Hyperintense Signals on Arterial Spin-Labeled Imaging as a predictor for favorable outcome after Late Time Window Thrombectomy,
The 5th European Stroke Organization Conference, ESOC 2019, Milan, May 2019. Wataru Sako, Takashi Abe, Yuishin Izumi, Masafumi Harada and Ryuji Kaji :
Difference in glutamate concentration in the thalamus between Parkinsons disease and multiple system atrophy,
XX III World Congress of Neurology, Sep. 2017. Toshitaka Kawarai, Ryosuke Miyamoto, Hideo Mure, Ryoma Morigaki, Orlacchio Antonio, Koichihara Reiko, Nakagawa Eiji, Takashi Sakamoto, Yuishin Izumi, Satoshi Goto and Ryuji Kaji :
Haploinsufficiency of KMT2B causes myoclonus-dystonia with impaired psychomotor ability,
The MDS 21th International Congress of Parkinsons Disease and Movement Disorders, Jun. 2017.

(キーワード): KMT2B / dystonia

Orlacchio Antonio, Montecchiani Celeste, Ryosuke Miyamoto, Mearini Marzia, DOnofrio Laura, Marialuisa Miele, Gaudiello Fabrizio, Yuishin Izumi, Caltagirone Carlo, Ryuji Kaji and Toshitaka Kawarai :
Spastic Paraplegia Type 4: a Novel SPAST Splice Site Donor Mutation and Expansion of the Phenotype Variability,
The MDS 21th International Congress of Parkinsons Disease and Movement Disorders, Jun. 2017.

(キーワード): Spastic Paraplegia / Phenotype Variability

Wataru Sako, 村上永尚, 元浜啓介, Yuishin Izumi and Ryuji Kaji :
Istradefylline improves motor symptoms in Parkinsons disease: A meta-analysis,
The Movement Disorder Society 21th International Congress of Parkinson's Disease and Movement Disorders, Vancouver, Jun. 2017. Nobuaki Yamamoto, Junichiro Satomi, Yuishin Izumi, Shinji Nagahiro and Ryuji Kaji :
Usefulness of 3-tesla magnetic resonance arterial spin-labeled imaging for diagnosis of cranial dural arteriovenous fistula,
European Stroke Organization Conference, May 2017. Nobuaki Yamamoto, Junichiro Satomi, Yuishin Izumi, Shinji Nagahiro and Ryuji Kaji :
Predictors of a favorable outcome after recanalization In patients with cerebral major vessel occlusion,
International Symposium on Thrombectomy and Acute Stroke Therapy, Oct. 2016. Toshitaka Kawarai, Ryosuke Miyamoto, Kuroda Yukiko, Omoto Masatoshi, Ueyama Morio, Murakami Nagahisa, Takahiro Furukawa, Oki Ryosuke, Hiroyuki Nodera, Orlacchio Antonio, Hashiguchi Akihiro, Higuchi Yujiro, Takashima Hiroshi, Kanda Takashi, Yuishin Izumi, Nagai Yoshitaka, Takao Mitsui and Ryuji Kaji :
A Homozygous loss-of-function mutation in DNAJA3 causes Hereditary Motor and Sensory Neuropathy with Spastic Paraplegia (HMSN type V),
The MDS 20th International Congress of Parkinsons Disease and Movement Disorders, Jun. 2016.

(キーワード): DNAJA3 / Hereditary Motor and Sensory Neuropathy

Wataru Sako, Takashi Abe, Murakami Nagahisa, Miyazaki Yoshimichi, Yuishin Izumi, Masafumi Harada and Kaji Ryuji :
Imaging-based differential diagnosis between multiple system atrophy and Parkinsons disease,
he Movement Disorder Society 20th International Congress of Parkinson's Disease and Movement Disorders, Jun. 2016. Toshitaka Kawarai, Ryosuke Miyamoto, Kuroda Yukiko, Omoto Masatoshi, Ueyama Morio, Murakami Nagahisa, Takahiro Furukawa, Oki Ryosuke, Hiroyuki Nodera, Orlacchio Antonio, Hashiguchi Akihiro, Higuchi Yujiro, Takashima Hiroshi, Kanda Takashi, Yuishin Izumi, Nagai Yoshitaka, Mitsui Takao and Kaji Ryuji :
A Homozygous loss-of-function mutation in DNAJA3 causes Hereditary Motor and Sensory Neuropathy with Spastic Paraplegia (HMSN type V),
The 13th International Congress of Human Genetics (ICHG2016), Apr. 2016. Naoko Matsui, Takahiro Furukawa, Koji Fujita, Hiroyuki Nodera, Fumitaka Shimizu, Katsuichi Miyamoto, Yukitoshi Takahashi, Takashi Kanda, Susumu Kusunoki, Yuishin Izumi and Ryuji Kaji :
CSF cytokine profile distinguishes multifocal motor neuropathy from progressive muscular atrophy,
1st Asia-Pacific School of Neuroimmunology, Vol.2, No.5, e138, Tokyo, Aug. 2015.

(出版サイトへのリンク): ● Publication site (DOI): 10.1212/NXI.0000000000000138
(文献検索サイトへのリンク): ● Summary page in Scopus @ Elsevier: 2-s2.0-85011964802

(DOI: 10.1212/NXI.0000000000000138, Elsevier: Scopus) Takahiro Furukawa, Naoko Matsui, Kaji Fujita, Hiroyuki Nodera, Fumitaka Shimizu, Katsuyuki Miyamoto, Yukitoshi Takahashi, Takashi Kanda, Susumu Kusunoki, Yuishin Izumi and Ryuji Kaji :
CSF cytokine profile distinguishes multifocal motor neuropathy from progressive muscular atrophy,
1st Congress of the European Academy of Neurology, Vol.2, No.5, 138, Berlin, Jul. 2015.

(出版サイトへのリンク): ● Publication site (DOI): 10.1212/NXI.0000000000000138
(文献検索サイトへのリンク): ● Summary page in Scopus @ Elsevier: 2-s2.0-85011964802

(DOI: 10.1212/NXI.0000000000000138, Elsevier: Scopus) Nobuaki Yamamoto, Junichiro Satomi, Yuishin Izumi, Shinji Nagahiro and Ryuji Kaji :
Is the susceptibility vessel sign on 3-tesla magnetic resonance T2*-weighted imaging a useful tool to predict recanalization?,
European Stroke Conference 2015, Vienna, Austria, May 2015. Takashi Abe, Toshitaka Kawarai, Obama Y, Irahara I, Kaji Seiji, Ryosuke Miyamoto, Sakai Waka, Tsukamoto-Miyashiro Ai, Naoko Matsui, Yuishin Izumi, Ryuji Kaji and Masafumi Harada :
Retrospective review of MRI and MRS findings in hereditary diffuse leukoencephalopathy with spheroids and elderly asymptomatic carrier of causative gene, colony stimulating factor-1 receptor: a single institution study.,
ASNR 53rd Annual Meeting & The Foundation of the ASNR Symposium, Apr. 2015. Kaji Seiji, Ryosuke Miyamoto, Osaki Yusuke, Hiroyuki Nodera, Toshitaka Kawarai, Yuishin Izumi and Ryuji Kaji :
Late-Onset Spastic Paraplegia Type 10 (SPG10) Family Presenting with Bulbar Symptoms - Primary Lateral Sclerosis (PLS) Mimic.,
The 67th AAN Annual Meeting of American Anademy of Neurology, Apr. 2015. Nobuaki Yamamoto, Yuka Terasawa, Junichiro Satomi, Ryoma Morigaki, Koji Fujita, Masafumi Harada, Yuishin Izumi, Shinji Nagahiro and Ryuji Kaji :
Reversibility of ischemic findings on 3-tesla magnetic resonance T2*-weighted image after recanalization,
European Stroke Conference 2014, Nice, France, May 2014. Sakai Waka, Naoko Matsui, Yuishin Izumi and Ryuji Kaji :
Clinical difference between myasthenia gravis patients with an onset age of 50-64 and over 65,
European Federation of Neurological Societies (EFNS) 2012, Stockholm, Sep. 2012. 寺澤由佳, 山本伸昭, 和泉唯信, 梶龍兒, 里見淳一郎, 永廣信治 :
当院におけるt-PA実施100例の検討,
第14回徳島脳卒中研究会, 徳島, 2012年2月. Yoshimichi Miyazaki, Wataru Sako, Koutaro Asanuma, Yuishin Izumi and Ryuji Kaji :
Open-label trial of zolpidem for dystonia: differential effects among subtypes.,
The XXth World Congress of Neurology, Morocco, Nov. 2011. Yoshimichi Miyazaki, Wataru Sako, Koutaro Asanuma, Yuishin Izumi and Ryuji Kaji :
Zolpidem therapy in dystonia,
The Movement Disorder Society's 14th International Congress of Parkinson's disease and Movement Disorders, Buenos Aires, May 2010. Locsin Leah Anne Christine Bollos, Youichi Otomi, 岡田直子, Tomoki Matsushita, Hideki Otsuka, Ryosuke Kasai, Shoichiro Takao, Koji Fujita, Yuishin Izumi, Takayoshi Shinya, Hitoshi Ikushima and Masafumi Harada :
Comparative Imaging of Creutzfeldt-Jakob Disease: Two Cases with and without CCD,
第141回日本医学放射線学会中国・四国地方会, Dec. 2024. 木原直輝, 宮本亮介, 橘このか, 松原知康, 藤田浩司, 森野豊之, 和泉唯信 :
異常行動，失文法を呈しCSF1R 遺伝子の新規バリアントを認めたALSP/HDLSの1例,
第115回日本神経学会中国・四国地方会, 2024年6月. 木原直輝, 山﨑博輝, 黒田一駿, 福本竜也, 松原知康, 土師正太郎, 宮本亮介, 山本伸昭, 藤田浩司, 松井尚子, 和泉唯信 :
卵巣奇形腫の診断までに時間を要した抗 NMDA 受容体脳炎の1例,
第15回四国神経懇話会, 2024年2月. 森垣龍馬, 三宅一央, 宮本亮介, 大前博司, 松田拓, 小山広士, 和泉唯信, 髙木康志 :
GPi-DBSが著効した外転型痙攣性発声障害の一例,
第63回日本定位機能外科学会, 2024年2月. 橘このか, 宮本亮介, 武藤浩平, 福本竜也, 山内翔葵, 中森正博, 梶龍兒, 森野豊之, 和泉唯信 :
家族間で異なる表現型を呈したANO3ジストニアの1家系,
第114回日本神経学会中国・四国地方会, 2023年12月. 松本唯, 中瀧理仁, 石本良祐, 一宮俊文, 野田尚吾, 前田拓也, 増田太利志, 𠮷田朋広, 青井駿, 山田直輝, 富岡有紀子, 梅原英裕, 土師正太郎, 藤田浩司, 和泉唯信, 沼田周助 :
ADの灰白質体積と神経心理検査および髄液アミロイドβの関連性の検討,
【第42回日本認知症学会学術総会, 2023年11月. 松本唯, 中瀧理仁, 石本良祐, 一宮俊文, 野田尚吾, 前田拓也, 増田太利志, 𠮷田朋広, 青井駿, 山田直輝, 富岡有紀子, 梅原英裕, 土師正太郎, 藤田浩司, 和泉唯信, 沼田周助 :
認知症の灰白質体積と神経心理検査および髄液アミロイドβの関連性の検討,
第45回日本生物学的精神医学会年会, 2023年11月. 中村信元, 手束宏明, 山上圭, 和泉唯信, 西條早希, 前田悠作, 住谷龍平, 大浦雅博, 曽我部公子, 高橋真美子, 藤井志朗, 原田武志, 三木浩和 :
免疫再構築症候群により急速な経過で死亡に至ったHIV関連進行性多巣性白質脳症の一剖検例,
日本エイズ学会誌, Vol.25, No.4, 461, 2023年11月.

(キーワード): *AIDS(合併症,薬物療法,病理学) *白質脳症-進行性多巣性(病因,薬物療法,病理学) *剖検 *免疫再構築症候群(病因,病理学) ヒト中年(45∼64) 男

山上圭, 松原知康, 山﨑博輝, 藤田浩司, 原田雅史, 中道一生, 齋藤祐子, 村山繁雄, 和泉唯信 :
小脳・脳幹部優位のHIV関連進行性多巣性白質脳症を呈し呼吸不全で死亡した51歳男性例,
第27回日本神経感染症学会総会・学術大会, 2023年10月. 松井尚子, 望月歩, 武藤浩平, 山本雄貴, 和泉唯信 :
当院における難治MG例の検討,
第35回日本神経免疫学会学術集会, 2023年9月. 松井尚子, 和泉唯信 :
Stiff-person症候群の現状と課題,
第35回日本神経免疫学会学術集会, 2023年9月. 和泉唯信 :
筋萎縮性側索硬化症に対する超高用量ビタミンB12の効果,
第34回日本末梢神経学会学術集会, 2023年9月. 土師正太郎, 佐光亘, 村上永尚, 大崎裕亮, 和泉唯信 :
メタ解析から見えるパーキンソン病のプラセボ効果の要因,
第53回日本神経精神薬理学会年会, 2023年9月. 和泉唯信 :
筋萎縮性側索硬化症の治療法開発,
第53回日本神経精神薬理学会年会, 2023年9月. 山上圭, 松原知康, 藤田浩司, 西田善彦, 齋藤祐子, 村山繁雄, 和泉唯信 :
行動異常を呈した高齢発症認知症の77歳男性の剖検例,
第64回日本神経病理学会総会学術研究会, 2023年7月. 和泉唯信, 松原知康, 織田雅也, 藤田浩司, 宮本亮介, 山上圭, 渡辺千種, 立山義朗, 齋藤祐子, 村山繁雄 :
Tokushima ALS Researchの臨床・病理実証研究,
第64回日本神経病理学会総会学術研究会, 2023年7月. 山﨑博輝, 髙松直子, 和泉唯信 :
筋疾患に対する超音波検査のアプローチ,
第42回日本脳神経超音波学会総会, 2023年6月. 山内翔葵, 宮本亮介, 武藤浩平, 桑野由紀, Nazere Keyoumu, 西田憲生, 橘このか, 和泉唯信, 森野豊之 :
表現型に基づく優先順位付けを用いたALSの病的バリアント検索,
第64回日本神経学会学術大会, 2023年6月. F Shimizu, R Sato, Y Mizukami, K Watanabe, S Misawa, N Matsui, Y Takeshita, T Maeda, Yuishin Izumi, S Kuwabara and T Kanda :
The effect of IgG from CIDP and MMN on the blood-nerve barrier,
第64回日本神経学会学術大会, Jun. 2023. M Yanagihashi, T Hirayama, M Shibukawa, J Nagasawa, Koji Fujita, Yuishin Izumi, M Morita, K Bokuda, K Takahashi, K Kanai, N Atsuta, Y Iguchi, M Katsuno, Y Murakami and O Kano :
The reliability of Japanese version Primary Lateral Sclerosis Functional Rating Scale (PLSFRS),
第64回日本神経学会学術大会, Jun. 2023. M Sawada, T Hirayama, M Yanagihara, Koji Fukushima, Yuishin Izumi, T Naoi, M Morita, H Warita, M Aoki, Y Iguchi, M Katsuno, N Ogawa, M Urushitani, T Ishihara, O Onodera, Y Murakami and O Kano :
The reliability study for Japanese version of Columbia Muscle Cramp Scale in ALS,
第64回日本神経学会学術大会, Jun. 2023. 土師正太郎, 佐光亘, 福島功士, 花田健太, 大崎裕亮, 松元友暉, 原田雅史, 和泉唯信 :
QSMを用いた視床下核の面先・磁化率評価は進行性核上性麻痺の診断に有用である,
第64回日本神経学会学術大会, 2023年6月. 和泉唯信 :
ALS薬物治療の進歩,
第64回日本神経学会学術大会, 2023年6月. K Tachibana, Ryosuke Miyamoto, Hiroyuki Morino, T Fukumoto, S Matsumoto, T Mezaki, K Hoshino, Koutaro Asanuma, T Sakamoto, Ryuji Kaji and Yuishin Izumi :
Japan Dystonia Consortium, Genetical and clinical features in a cohort of Japanese patients with dystonia,
第64回日本神経学会学術大会, May 2023. M Shibukawa, T Hirayama, H Morioka, M Hozumi, H Tsuda, N Atsuta, Yuishin Izumi, Y Nakayama, T Shimizu, H Inoue, M Urushitani, K Yamanaka, M Aoki, S Ebihara, A Takeda and O Kano :
The urgent need to advance disaster preparedness for amyotrophic lateral sclerosis patients,
第64回日本神経学会学術大会, May 2023. A Ikeda, M Funayama, M Yoshida, Y Li, H Yoshino, T Inoshita, K Shiba-Fukushima, H Meng, T Amo, I Aiba, Y Saito, N Atsuta, R Nakamura, G Tohnai, J Sone, Y Saito, S Murayama, Yuishin Izumi, Ryuji Kaji, M Morita, A Taniguchi, K Nishioka, Y Imai, G Sobue and N Hattori :
Characterization of CHCHD2 variants linked to amyotrophic lateral sclerosis and Parkinsons disease,
第64回日本神経学会学術大会, May 2023. 山本伸昭, 黒田一駿, 山本雄貴, 和泉唯信, 曽我部周, 高麗雅章, 島田健司, 兼松康久, 髙木康志 :
First pass TICI2B患者の追加治療における意義,
第64回日本神経学会学術大会, 2023年5月. 山本雄貴, 山本伸昭, 黒田一駿, 松田知大, 島田健司, 兼松康久, 髙木康志, 和泉唯信 :
頸動脈浮遊血栓に対する，ステントトリーバーによる血栓回収とCASの併用,
第64回日本神経学会学術大会, 2023年5月. 山﨑博輝, 髙松直子, 福島功士, 花田健太, 大崎裕亮, 和泉唯信 :
発症早期ALSの診断における神経超音波を用いた脳神経叢評価の有用性,
第64回日本神経学会学術大会, 2023年5月. 山﨑博輝, 髙松直子, 大崎裕亮, 和泉唯信 :
どこまで追うべき!? 神経超音波によるuncommon nerveの描出の有用性,
第64回日本神経学会学術大会, 2023年5月. 橘このか, Ryosuke Miyamoto, Hiroyuki Morino, 福本竜也, 松本真一, 目崎高広, 星野恭子, Koutaro Asanuma, Takashi Sakamoto, Ryuji Kaji, Yuishin Izumi and Consortium Dystonia Japan :
Genetical and clinical features in a cohort of Japanese patients with dystonia,
第64回日本神経学会学術大会, May 2023. 兼松康久, 山口泉, 石原学, 曽我部周, 宮本健志, 高麗雅章, 島田健司, 黒田一駿, 山本伸昭, 山本雄貴, 和泉唯信, 髙木康志 :
徳島県循環器病推進計画の中での急性期脳卒中診療の取り組み,
STROKE2023, 2023年3月. 曽我部周, 宮本健志, 山口泉, 高麗雅章, 島田健司, 兼松康久, 山本雄貴, 山本伸昭, 原田雅史, 和泉唯信, 髙木康志 :
当院での低ASPECTS症例の拡散強調画像に対するRAPIDを用いた後方視的定量評価,
第48回日本脳卒中学会学術集会, 2023年3月. 森垣龍馬, 三宅一央, 松田拓, 小山広士, 宮本亮介, 和泉唯信, 中瀧理仁, 梶龍兒, 後藤惠, 髙木康志 :
機能性要素を合併したジストニア症例への手術加療をどう考えるか,
第62回日本定位・機能神経外科学会, 2023年1月. 松井尚子, 和泉唯信 :
スティッフパーソン症候群全国調査最終報告とバイオマーカー探索,
厚生労働省難治性疾患政策研究班(神経免疫疾患のエビデンスに基づく診断基準・重症度分類・ガイドラインの妥当性と患者QOLの検証研究班)班会議, 2023年1月. 山上圭, 花田健太, 山本雄貴, 山﨑博輝, 大崎裕亮, 松井尚子, 藤田浩司, 和泉唯信 :
尿閉・便秘を呈したフィッシャー症候群の34歳男性例,
第112回日本神経学会中国・四国地方会, 2022年12月. 花田健太, 大崎裕亮, 宮本亮介, 土師正太郎, 森野豊之, 和泉唯信 :
新規のMORC2変異を認めたCharcot-Marie-Tooth病2Z型の1例,
第112回日本神経学会中国・四国地方会, 2022年12月. 黒田一駿, 山本雄貴, 山本伸昭, 松田知大, 板東康司, 山口泉, 高麗雅章, 島田健司, 兼松康久, 和泉唯信, 髙木康志 :
広範囲シャントを伴った横静脈洞部硬膜動静脈瘻に対して血管内治療を行った1例,
第112回日本神経学会中国・四国地方会, 2022年12月. 砂田陽二郎, 新家崇義, 音見暢一, 音見暢一, 久保典子, 大塚秀樹, 原田雅史, 川中崇, 和泉唯信, 安積麻衣, 中島公平, 髙木康志 :
F-18 FDG PET/CTにて多発性の神経根集積を認めた悪性リンパ腫の一例,
第137回日本医学放射線学会中国・四国地方会, 2022年12月. 坂口暁, 佐藤康敬, 石田光代, 前田和輝, 二見明香里, 八木健太, 沖良祐, 藤田浩司, 楊河宏章, 和泉唯信, 梶龍兒, 石澤啓介 :
高用量メチルコバラミンの筋萎縮性側索硬化症に対する第III相試験の被験者及び家族におけるアンケート調査,
第43回日本臨床薬理学会学術総会, 2022年11月. 藤田浩司, Munkhzaya Chuluunbat, 松田大貴, 大友真姫, 音見暢一, 工藤與亮, 原田雅史, 和泉唯信 :
アルツハイマー病における灰白質ネットワーク,
第41回日本認知症学会学術集会, 2022年11月. 東原真奈, 山﨑博輝, 和泉唯信, 大石知瑞子, 野寺裕之, 村山繁雄, 梶龍兒, 園生雅弘 :
遠隔電場電位CMAPはALSにおける信頼性の高い電気生理マーカーである,
日本臨床神経生理学会第52回学術大会, 2022年11月. 佐光亘, 土師正太郎, 阿部考志, 大崎裕亮, 松本友暉, 原田雅史, 和泉唯信 :
運動ニューロン疾患の一次運動野の容積と感覚運動ネットワークの活動性との関連,
日本臨床神経生理学会第52回学術大会, 2022年11月. 谷美紀, 大崎裕亮, 山﨑博輝, 福島功士, 和泉唯信 :
3回目の筋電図検査で診断に至った抗MuSK抗体陽性重症筋無力症の一例,
日本臨床神経生理学会第52回学術大会, 2022年11月. 花田健太, 山﨑博輝, 高松直子, 大崎裕亮, 和泉唯信 :
神経超音波検査で評価したneurolymphomatosisの1例,,
日本臨床神経生理学会第52回学術大会, 2022年11月. 大崎裕亮, 野寺裕之, 山﨑博輝, 高松直子, 梶龍兒, 和泉唯信 :
誤診から学ぶ筋電図検査筋電図検査前の診断が困難な神経筋疾患同疾患3症例の提示,
日本臨床神経生理学会第52回学術大会, 2022年11月. 大崎裕亮, 野寺裕之, 山﨑博輝, 和泉唯信 :
神経筋疾患の問題症例下肢近位筋・遠位筋筋力低下を来した脱髄性多発ニューロパチーの一例,
日本臨床神経生理学会第52回学術大会, 2022年11月. 松井尚子, 山﨑博輝, 高松直子, 吉田剛, 福島功士, 高田忠幸, 大崎裕亮, 田中惠子, 久保宣明, 和泉唯信 :
Stiff-person症候群との鑑別に筋超音波検査が有用であった好酸球性筋膜炎の一例,,
日本臨床神経生理学会第52回学術大会, 2022年11月. 曽我部周, 宮本健志, 山口泉, 高麗雅章, 島田健司, 兼松康久, 山本雄貴, 山本伸昭, 原田雅史, 和泉唯信, 和泉唯信, 髙木康志 :
当院の主幹動脈閉塞低ASPECT症例の拡散強調画像に対するRAPIDでの後方視的定量評価,
第38回NPO法人日本脳神経血管内治療学会学術集会, 2022年11月. 山本雄貴, 兼松康久, 山本伸昭, 黒田一駿, 山口泉, 曽我部周, 高麗雅章, 島田健司, 髙木康志, 和泉唯信 :
地方都市における救急医療連携アプリケーションを用いたLVO診断スケールの活用,
第38回NPO法人日本脳神経血管内治療学会学術集会, 2022年11月. 山本伸昭, 黒田一駿, 山本雄貴, 山口泉, 曽我部周, 島田健司, 兼松康久, 和泉唯信, 髙木康志 :
病院前スケール，iSchemaView RAPID導入前後の比較検討,
第38回NPO法人日本脳神経血管内治療学会学術集会, 2022年11月. 山本伸昭, 山本雄貴, 黒田一駿, 山口泉, 曽我部周, 高麗雅章, 島田健司, 兼松康久, 髙木康志, 和泉唯信 :
9Fr long sheathを用いた巨大血栓によるLVO治療例,
第38回NPO法人日本脳神経血管内治療学会学術集会, 2022年11月. 和泉唯信 :
難病患者さんとのかかわりと治療法開発,
第44回日本心身医学会中国・四国地方会特別講演, 2022年11月. 平野牧人, 竹原俊幸, 村山繁雄, 和泉唯信, 寒川真, 松原知康, 斎藤祐子, 西郷和真, 中村雄作, 楠進, 永井義隆 :
SCA8関連筋萎縮性側索硬化症の臨床病理学的解析と細胞モデルの構築および治療法の検討,
第40回日本神経治療学会学術集会, 2022年11月. 清水文崇, 佐藤亮太, 水上洋一, 渡邊健司, 三澤園子, 松井尚子, 竹下幸男, 前田敏彦, 和泉唯信, 桑原聡, 神田隆, 古賀道明 :
末梢慢性炎症性脱髄性多発ニューロパチーと多巣性運動ニューロパチー患者IgGが血液神経関門に及ぼす影響の解析,
第34回日本神経免疫学会学術集会, 2022年10月. 松井尚子, 山﨑博輝, 高松直子, 吉田剛, 福島功士, 高田忠幸, 大崎裕亮, 田中惠子, 久保宣明, 和泉唯信 :
Stiff-person症候群との鑑別に筋超音波検査が有用であった好酸球性筋膜炎の一例,
第34回日本神経免疫学会学術集会, 2022年10月. 和泉唯信, 松井尚子, 山本遙平, 田中惠子, 雑賀玲子, 飯塚高浩, 松井真, 梶龍兒, 桑原聡 :
自己免疫疾患 Stiff-person症候群の全国調査,
第34回日本神経免疫学会学術集会, 2022年10月. 森垣龍馬, 三宅一央, 松田拓, 宮本亮介, 和泉唯信, 中瀧理仁, 髙木康志 :
機能性要素を合併したジストニアへの手術加療,
日本脳神経外科学会第81回学術総会, 2022年9月. 曽我部周, 宮本健志, 山口泉, 高麗雅章, 島田健司, 兼松康久, 山本雄貴, 山本伸昭, 原田雅史, 和泉唯信, 髙木康志 :
当院での主幹動脈閉塞-低ASPECT症例の拡散強調画像に対するRAPIDを用いた後方視的定量評価,
日本脳神経外科学会第81回学術総会, 2022年9月. 臼木貴子, 三島智美, 尾ぬか由美, 立花小枝, 遠藤静香, 湯浅美樹, 吉田まゆみ, 藤田浩司, 和泉唯信, 宮内吉男, 宇都宮正登 :
徳島市認知症初期集中支援チームの活動報告若年性認知症3事例の検討,
第22回日本早期認知症学会学術大会, 2022年9月. 中山知彦, 六車隆太郎, 多田紗彩, 高原実香, 宮本亮介, 中瀧理仁, 和泉唯信, 沼田周助 :
難治性うつ病として治療中にレビー小体病が明らかとなった1症例,
第22回日本早期認知症学会学術大会, 2022年9月. Munkhzaya Chuluunbat, Daiki Matsuda, Koji Fujita, Maki Ohtomo, Youichi Otomi, 工藤與亮, Masafumi Harada and Yuishin Izumi :
Alzheimer's disease-related gray matter volume network,
第22回日本早期認知症学会学術大会, Sep. 2022. 織田雅也, 伊藤聖, 和泉唯信 :
中山間地域の脳神経内科診療所における道路交通法改正後の診断書作成状況に関する調査,
第22回日本早期認知症学会学術大会, 2022年9月. 花田健太, 大崎裕亮, 宮本亮介, 土師正太郎, 森野豊之, 和泉唯信 :
MORC2新規変異を認めたCharcot-Marie-Tooth病2Z型の1例,
第33回日本末梢神経学会学術集会, 2022年9月. 清水文崇, 佐藤亮太, 水上洋一, 渡邊健一, 三澤園子, 松井尚子, 竹下幸男, 前田敏彦, 和泉唯信, 桑原聡, 神田隆, 古賀道明 :
慢性炎症性脱髄性多発ニューロパチーと多巣性運動ニューロパチー患者免疫グロブリンGが血液神経関門に及ぼす影響の解析,
第33回日本末梢神経学会学術集会, 2022年9月. 山本雄貴, 兼松康久, 山本伸昭, 黒田一駿, 山口泉, 曽我部周, 高麗雅章, 島田健司, 髙木康志, 和泉唯信 :
徳島市におけるアプリケーションを用いたLVO診断スケールの活用(FAST-ED Tokushima),
第24回中国四国脳卒中研究会, 2022年9月. 武藤浩平, 村上尚哉, 記本直輝, 藤田浩司, 和泉唯信 :
両側声帯麻痺により緊急気管切開を要したPR3-ANCA陽性肥厚性硬膜炎の1例,
第18回日本神経摂食嚥下・栄養学会学術集会東京大会, 2022年9月. 和泉唯信 :
死生の学部教育神経難病における病状説明,
日本臨床死生学会, 2022年9月. 倉重毅志, 森野豊之, 村尾智美, 和泉唯信, 杉浦智仁, 倉岡和矢, 川上秀史, 鳥居剛, 丸山博文 :
ALS患者の筋内神経束でのTDP-43凝集,
第8回日本筋学会学術集会, 2022年8月. 兼松康久, 山口泉, 石原学, 曽我部周, 宮本健志, 高麗雅章, 島田健司, 黒田一駿, 山本雄貴, 山本伸昭, 和泉唯信, 髙木康志 :
徳島県循環器病推進計画の中での急性期脳卒中診療の取り組み,
徳島医学会学術集会, 2022年7月. 和泉唯信 :
筋萎縮性側索硬化症と頸椎症,
第35回日本臨床整形外科学会学術集会阿波セミナー6, 2022年7月. 和泉唯信 :
診断後の課題―患者・家族への説明,
令和4年(2022)度神経変性疾患領域の基盤的調査研究班ワークショップ, 2022年7月. 松原知康, 和泉唯信, 高原実香, 齋藤祐子, 村山繁雄 :
リン酸化TDP43陽性核内陽性所見を伴う筋萎縮性側索硬化症の1例,
第63回日本神経病理学会総会学術研究会, 2022年6月. 花田健太, 山本雄貴, 大崎裕亮, 島かさ音, 武藤浩平, 宮本亮介, 藤田浩司, 和泉唯信 :
Ocular flutterと体幹優位の運動失調を認めた抗NMDA受容体抗体陽性の若年女性例,
第111回日本神経学会中国・四国地方会, 2022年6月. 武藤浩平, 村上尚哉, 記本直輝, 藤田浩司, 和泉唯信 :
両側声帯麻痺により緊急気管切開を要したPR3-ANCA陽性肥厚性硬膜炎の1例,
第111回日本神経学会中国・四国地方会, 2022年6月. 松下知樹, 笠井嘉人, 新家崇義, 原田雅史, 武藤浩平, 土師正太郎, 和泉唯信 :
低Na血症を合併した抗LGI1抗体陽性辺縁系脳炎の一例,
第136回日本医学放射線学会中国・四国地方会, 2022年6月. 武藤浩平, 宮本亮介, 沖良祐, 宮﨑由道, 藤井大樹, 二宮伸介, 秋山倫之, 梶龍兒, 森野豊之, 和泉唯信 :
Geniospasm4,
第63回日本神経学会学術大会, 2022年5月. 花田健太, 山本雄貴, 大崎裕亮, 島かさ音, 武藤浩平, 宮本亮介, 藤田浩司, 和泉唯信 :
Ocular flutterと体幹優位の運動失調を認めた抗NMDA受容体抗体陽性の若年女性例,
第63回日本神経学会学術大会, 2022年5月. 武藤浩平, 村上尚哉, 記本直輝, 藤田浩司, 和泉唯信 :
両側声帯麻痺により緊急気管切開を要したPR3-ANCA陽性肥厚性硬膜炎の1例,
第63回日本神経学会学術大会, 2022年5月. 山﨑博輝, 高松直子, 福島功士, 吉田剛, 大崎裕亮, 和泉唯信 :
脱髄性ニューロパチーの補助診断における神経超音波を用いた腕神経叢評価の有用性,
第63回日本神経学会学術大会, 2022年5月. 武藤浩平, 宮本亮介, 沖良祐, 宮﨑由道, 藤井大樹, 二宮伸介, 秋山倫之, 梶龍兒, 森野豊之, 和泉唯信 :
本邦におけるGeniospasmの4家系,
第63回日本神経学会学術大会, 2022年5月. 和泉唯信, 沖良祐 :
ALSに対する治験の動向,
第63回日本神経学会学術大会ホットトピックス11, 2022年5月. 福島功士, 高松直子, 山本雄貴, 山﨑博輝, 吉田剛, 土師正太郎, 大崎裕亮, 藤田浩司, 杉江和馬, 和泉唯信 :
筋超音波検査の線維束性収縮に基づく筋萎縮性側索硬化症の診断マーカー,
第63回日本神経学会学術大会, 2022年5月. 山本遙平, 松井尚子, 田中惠子, 松井真, 桑原聡, 和泉唯信 :
スティッフパーソン症候群の全国調査,
第63回日本神経学会学術大会, 2022年5月. M Higahibara, Hiroki Yamazaki, Yuishin Izumi, C Oishi, T Chiba, Hiroyuki Nodera, S Murayama, Ryuji Kaji and M Sonoo :
Far-field potential of CMAP (FFP-CMAP) as a reliable neurophysiological marker in ALS,
第63回日本神経学会学術大会, May 2022. M Hirano, T Takehara, S Murayama, Yuishin Izumi, M Samukawa, Tomoyasu Matsubara, Y Saito, K Saigoh, Y Nakamura, K Fukuda, S Kusunoki and Y Nagai :
Phenotypic vatiation and therapeutic strategy of SCA8-associated amyotrophic lateral sclerosis,
第63回日本神経学会学術大会, May 2022. 山本雄貴, 山本伸昭, 兼松康久, 黒田一駿, 藤田浩司, 髙木康志, 和泉唯信 :
徳島市におけるアプリケーションを用いた病院前脳主幹動脈閉塞診断スケールの活用,
第63回日本神経学会学術大会, 2022年5月. A Ikeda, M Funayama, M Yoshida, Y Li, T Inoshita, K Shiba-Fukushima, H Meng, T Amo, I Aiba, Y Saito, N Atsuta, R Nakamura, G Tohnai, J Sone, Yuishin Izumi, Ryuji Kaji, M Morita, A Taniguchi, K Nishioka, Y Imai, G Sobue, N Hattori and JaCALS :
Two novel variants in CHCHD2 associate with TDP-43 pathology among amyotrophic lateral sclerosis,
第63回日本神経学会学術大会, May 2022. 大崎裕亮, 宮本亮介, 森野豊之, 和泉唯信 :
Distal hereditary motor neuropathyを呈したMARS新規変異を有する1家系,
第63回日本神経学会学術大会, 2022年5月. 中村亮一, 中栃昌弘, 熱田直樹, 藤内玄規, 伊藤大輔, 和泉唯信, 橋本里奈, 饗場郁子, 溝口功一, 金井数明, 青木正志, 柴田俊, 伊藤千弘, 湯浅知子, 徳井啓介, 川頭祐一, 丹羽淳一, 道勇学, 勝野雅央, 祖父江元 :
SOD1-G935変異陽性筋萎縮性側索硬化症患者の臨床遺伝学的特徴,
第63回日本神経学会学術大会, 2022年5月. 土師正太郎, 藤田浩司, 沖良祐, 大崎裕亮, 金澤裕樹, 松元友暉, 有澤亜津子, 川井恒, 佐藤康敬, 八木健太, 坂口暁, 楊河宏章, 濱谷辰斗, 長野清一, 望月秀樹, 熱田直樹, 道勇学, 祖父江元, 原田雅史, 和泉唯信 :
EPI-589の筋萎縮性側索硬化症を対象とした探索的医師主導試験(EPIC-ALS),
第63回日本神経学会学術大会, 2022年5月. 山本伸昭, 黒田一駿, 山本雄貴, 兼松康久, 森垣龍馬, 和泉唯信, 髙木康志 :
脳主幹動脈閉塞に対する血行再建術において有効再開通が得られた患者の予後関連因子,
第63回日本神経学会学術大会, 2022年5月. 和泉唯信 :
筋萎縮性側索硬化症(ALS)病態解明・治療法開発への試み,
第264回徳島医学会教授就任記念講演2, 2022年2月. 花田健太, 大崎裕亮, 和泉唯信 :
筋萎縮性側索硬化症の発症年齢はどう変化しているか,
第33回日本老年医学会四国地方会, 2022年1月. 和泉唯信 :
認知症治療の進歩と心房細動,
第33回日本老年医学会四国地方会ランチョンセミナー, 2022年. 宮本健志, 曽我部周, 兼松康久, 四方英二, 山口泉, 石原学, 島田健司, 山本雄貴, 山本伸昭, 和泉唯信, 髙木康志 :
脳主幹動脈閉塞に対して急性期再開通療法後MRIのRibbon signの特徴,
日本脳神経血管内治療学会, 2021年11月. 和泉唯信 :
難病患者さまとのかかわり―筋萎縮性側索硬化症(ALS)診療に取り組んで―,
6th JSA Annual Meeting ランチョンセミナー, 2021年11月. 山本遥平, 松井尚子, 田中惠子, 松井真, 桑原聡, 和泉唯信 :
スティッフパーソン症候群の全国調査,
第33回日本神経免疫学会学術集会(口演:ワークショップ8), 2021年10月. 山本伸昭, 山本雄貴, 黒田一駿, 山口泉, 曽我部周, 島田健司, 兼松康久, 和泉唯信, 髙木康志 :
脳主幹動脈閉塞における有効再開通が得られた患者における予後関連因子,
第23回中国四国脳卒中研究会, 2021年9月. 大崎裕亮, 島かさ音, 山本伸昭, 山﨑博輝, 佐藤健太, 和泉唯信 :
非対称性ニューロパチー様の臨床像で発症した抗Hu抗体陽性脳脊髄炎の一例,
第32回日本末梢神経学会学術集会, 2021年9月. Masaaki Nishi, Ryosuke Miyamoto, Kouzou Yoshikawa, Chie Takasu, Yuishin Izumi and Mitsuo Shimada :
Robot-assisted total gastrectomy for gastric cancer in a patient with amyotrophic lateral sclerosis receiving long-term tracheostomy invasive ventilation,
PACTALS 2021 NAGOYA, Sep. 2021. 和泉唯信 :
地方大学での認知症診療・ケアの試み,
第11回日本脳血管・認知症学会総会教育講演2, 2021年8月. 和泉唯信 :
筋萎縮性側索硬化症(ALS)の治療法開発の現状と課題,
第29回日本神経学会中国・四国地区生涯教育講演会, 2021年6月. 松原知康, 和泉唯信, 土師正太郎, 山﨑博輝, 大崎裕亮, 宮本亮介, 藤田浩司, 齋藤祐子, 村山繁雄 :
Lewy小体型認知症と筋萎縮性側索硬化症を合併した1例,
第62回日本神経病理学会総会学術研究会, 2021年5月. 織田雅也, 大石歩美, 小田恵美子, 秋本千鶴, 亀岡真理子, 宮本ひろ美, 坂井真志, 若林悠, 伊藤聖, 和泉唯信 :
風水害に備えた人工呼吸器装着患者の避難入院:避難入院計画策定の実際,
第62回日本神経学会学術大会, 2021年5月. 沖良祐, 和泉唯信, 藤田浩司, 佐藤康敬, 二見明香理, 前田和輝, 八木健太, 坂口暁, 楊河宏章, 桑原聡, 梶龍兒 :
COVID-19流行下におけるALSを対象とした医師主導治験運営の取組み,
第62回日本神経学会学術大会, 2021年5月. 坂野晴彦, 近藤孝之, 奥宮太郎, 網野祥子, 魚住龍史, 森田智視, 新堂晃大, 眞木崇州, 池田学, 和泉唯信, 金丸和富, 石井賢二, 釜江和恵, 砂田芳秀, 川勝忍, 渡邉敏文, 内川治, 高橋良輔, 冨本秀和, 井上治久 :
プレセニリン1変異アルツハイマー病に対するブロモクリプチンの臨床試験プロトコル,
第62回日本神経学会学術大会, 2021年5月. 山本雄貴, 山本伸昭, 黒田一駿, 山口泉, 宮本健志, 島田健司, 髙木康志, 和泉唯信 :
血栓回収療法におけるFirst Pass Effect達成を予測する画像因子の探索,
第62回日本神経学会学術大会, 2021年5月. 藤田浩司, 和泉唯信 :
ALSにおける心血管系および自律神経系異常,
第62回日本神経学会学術大会シンポジウム24, 2021年5月. 和泉唯信 :
最近の筋萎縮性側索硬化症治験,
第62回日本神経学会学術大会シンポジウム07, 2021年5月. 和泉唯信 :
脳神経内科診療・治療の進歩,
日本内科学会四国支部主催第64回生涯教育講演会, 2021年5月. 島かさ音, 藤田浩司, 大崎裕亮, 和泉唯信 :
中枢神経ゴム腫で発症した梅毒の 1 例,
第124回日本内科学会四国地方会, 2021年5月. 仲須千春, 西正暁, 島田光生, 吉川幸造, 髙須千絵, 徳永卓哉, 柏原秀也, 和泉唯信, 宮本亮介 :
胃癌を発症したロックドイン状態のALS患者に対してロボット支援下胃全摘,
第121回日本外科学会定期学術集会, 2021年4月. 山本雄貴, 山本伸昭, 和泉唯信 :
血栓回収療法における血栓突出サインはFirst Pass Effect達成と関連する,
第46回日本脳卒中学会学術集会, 2021年3月. 宮本健志, 曽我部周, 兼松康久, 島田健司, 山口泉, 山本伸昭, 山本雄貴, 和泉唯信, 髙木康志 :
脳梗塞急性期再開通療法後MRIの急性期ribbon signの特徴,
第46回日本脳卒中学会学術集会, 2021年3月. 牟礼英生, 森垣龍馬, 小山広士, 三宅一央, 松田拓, 宮本亮介, 藤田浩司, 和泉唯信, 後藤惠, 髙木康志 :
遅発性ジストニアに対する淡蒼球内節刺激術12例の検討ー適応・長期成績・刺激条件についてー,
第60回日本定位・機能神経外科学会, 2021年1月. 花田健太, 大崎裕亮, 島かさ音, 武藤浩平, 福本竜也, 山本雄貴, 鬼頭秀樹, 和泉唯信 :
病院連携により病理解剖を行った筋萎縮性側索硬化症の1例,
第108回日本神経学会中国・四国地方会, 2020年12月. 武藤浩平, 宮本亮介, 寺澤由佳, 藤田浩司, 和泉唯信 :
てんかん発作と繰り返す鼻出血を認めた新規COL4A1変異の1例,
第108回日本神経学会中国・四国地方会, 2020年12月. 高原実香, 山本伸昭, 宮本亮介, 藤田浩司, 和泉唯信, 住谷龍平, 中村信元, 安倍正博, 島津秀紀, 西田善彦 :
意識障害，高アンモニア血症を呈した78歳男性,
四国医学雑誌, Vol.76, No.5-6, 346, 2020年12月.

(キーワード): Dexamethasone(治療的利用) / 意識障害(病因) / 腫瘍多剤併用療法 / 骨髄腫-多発性(合併症,病理学,薬物療法) / 高アンモニア血症(病因,診断) / Bortezomib(治療的利用) / BD Protocol (Bortezomib-Dexamethasone) / ヒト / 高齢者(65~79) / 男

藤田浩司, 原田雅史, 岩崎靖, 赤木明生, 島かさ音, 谷口浩一郎, 吉田眞理, 和泉唯信 :
クロイツフェルト・ヤコブ病の拡散尖度画像,
第39回日本認知症学会学術集会, 2020年11月. 和泉唯信 :
ランチョンセミナー筋萎縮性側索硬化症の新規治療薬開発,
第38回日本神経治療学会学術集会, 2020年10月. 牟礼英生, 森垣龍馬, 小山広士, 大北真哉, 松田拓, 佐光亘, 宮本亮介, 藤田浩司, 和泉唯信, 梶龍兒, 後藤惠, 髙木康志 :
遅発性ジストニアに対する淡蒼球内節刺激術12例の検討:適応・長期成績・刺激条件について,
第79回日本脳神経外科学会総会, 2020年10月. 山本遥平, 松井尚子, 織田史子, 小澤由希子, 金井哲也, 鵜沢顕之, 大東いずみ, 近藤和也, 桑原聡, 山村隆, 和泉唯信 :
重症筋無力症患者の胸腺ではプラズマブラストが増加している,
第32回日本神経免疫学会学術集会, 2020年10月. 福本竜也, 宮本亮介, 藤田浩司, 松井尚子, 和泉唯信 :
抗AMPA受容体抗体による傍腫瘍性神経症候群の76歳男性例,
第32回日本神経免疫学会学術集会, 2020年10月. 花田健太, 大崎裕亮, 福本竜也, 松井尚子, 和泉唯信, 浦岡秀行 :
初期に頭部画像病変を欠くCISが先行し，10年後に診断された多発性硬化症の一例,
第61回日本神経学会学術大会, 2020年8月. 高原実香, 福本竜也, 垂髪祐樹, 山本伸昭, 宮本亮介, 藤田浩司, 和泉唯信 :
長い精神病期と，広範な大脳白質病変を呈した抗NMDA受容体脳炎の35歳男性,
第61回日本神経学会学術大会, 2020年8月. 島かさ音, 種井善一, 高原実香, 村上永尚, 山本伸昭, 坂東良美, 松原知康, 村山繁雄, 和泉唯信 :
腎移植から27年後に発症した延髄原発リンパ増殖性疾患の一例,
第61回日本神経学会学術大会, 2020年8月. 大崎裕亮, 佐光亘, 土師正太郎, 村上永尚, 松井尚子, 和泉唯信 :
傍腫瘍性視神経脊髄炎関連疾患(NMOSD)の高齢男性例,
第61回日本神経学会学術大会, 2020年8月. 宮本亮介, 黒田一駿, 牟礼英生, 森垣龍馬, 中瀧理仁, 大崎裕亮, 和泉唯信, 後藤惠, 梶龍兒 :
18p-症候群に伴う全身性ジストニアに対し，GPi-DBSが効果的であった一例,
第61回日本神経学会学術大会, 2020年8月. 坂本優子, 阿部考志, 音見暢一, 東航平, 松崎紗弥, 三橋遼太, 大友真姫, 原田雅史, 和泉唯信 :
当院における進行性多巣性白質脳症(PML)の5症例の画像所見脳血流や代謝画像を含めて,
第79日回日本医学放射線学会総会, 2020年5月. 和泉唯信 :
最新のALS治験,
ALS市民セミナーin名古屋知っておこうALS 早期診断と最新の治験, 2020年3月. 山本遥平, 松井尚子, 大東いずみ, 近藤和也, 和泉唯信 :
重症筋無力症患者の胸腺におけるB細胞分画と濾胞性ヘルパーT細胞の解析,
第39回日本胸腺研究会, 2020年2月. 和泉唯信 :
諸制度を活用して認知症者を地域で見守る,
四国公衆衛生学会, 2020年2月. 和泉唯信 :
最新のALS治験,
ALS市民セミナーin京都知っておこうALS 早期診断と最新の治験, 2020年2月. 宮本亮介, 藤田浩司, 牟礼英生, 森垣龍馬, 中瀧理仁, 和泉唯信, 後藤惠, 梶龍兒 :
ヒステリー性麻痺の臨床診断と電気生理心因性運動障害の診断心因性ジストニアを中心に,
第49回日本臨床神経生理学会学術大会, 2019年11月. 山本雄貴, 山本伸昭, 兼松康久, 石原学, 宮本健志, 高麗雅章, 島田健司, 牟礼英生, 髙木康志, 和泉唯信 :
転倒後の脳脊髄液減少症に上矢状静脈洞血栓症を合併し, 血管内治療をおこなった一例,
第35回日本脳神経血管内治療学会学術総会, 2019年11月. 山本雄貴, 山本伸昭, 福本竜也, 村上永久, 宮本亮介, 藤田浩司, 牟礼英生, 兼松康久, 髙木康志, 和泉唯信 :
転倒を契機に脳脊髄液減少症と静脈洞血栓症を合併し，ブラッドパッチにて治療した脊髄小脳変性症6型の1例,
第37回日本神経治療学会学術集会, 2019年11月. 和泉唯信, 沖良祐, 桑原聡, 梶龍兒 :
神経変性疾患に対する医師主導治験とエビデンス構築筋萎縮性側索硬化症に対する医師主導治験,
第37回日本神経治療学会学術集会, 2019年11月. 山本遥平, 松井尚子, 織田史子, 小澤由希子, 金井哲也, 鵜沢顕之, 大東いずみ, 近藤博之, 近藤和也, 北川哲也, 桑原聡, 山村隆, 和泉唯信, 梶龍兒 :
重症筋無力症患者の胸腺におけるB細胞分画と濾胞性ヘルパーT細胞の解析,
第31回日本神経免疫学会学術集会, Vol.24, No.1, 140, 2019年9月. 松井尚子, 黒田一駿, 沖良祐, 村上永尚, 山﨑博輝, 梶龍兒, 和泉唯信 :
Heat pack testで症状の改善を認めた全身型重症筋無力症の一例,
第31回日本神経免疫学会学術集会, 2019年9月. 和泉唯信 :
教育講演2,
第11回日本脳血管・認知症学会総会, 2019年9月. 山本伸昭, 山本雄貴, 石原学, 宮本健志, 島田健司, 兼松康久, 和泉唯信, 髙木康志 :
血行再建術前における経静脈的造影剤投与によるFlat panel CTAの有用性,
中四国脳卒中研究会, 2019年9月. 高松直子, 山﨑博輝, 野寺裕之, 和泉唯信 :
脳神経超音波マニュアル(神経筋エコー),
第38回日本脳神経超音波学会総会, 2019年6月. 山﨑博輝, 高松直子, 福島功士, 三宅晶子, 垂髪祐樹, 吉田剛, 大崎裕亮, 森敦子, 野寺裕之, 和泉唯信 :
手指の痺れを主訴とした患者に対しどこまで対応するか,
第38回日本脳神経超音波学会総会, 2019年6月. Yohei Yamamoto, Naoko Matsui, Fumiko Oda, Yukiko Ozawa, Tetsuya Kanai, Akiyuki Uzawa, Izumi Ohigashi, Hiroyuki Kondo, Kazuya Kondo, Tetsuya Kitagawa, Takashi Yamamura, Satoshi Kuwabara, Yuishin Izumi and Ryuji Kaji :
B cell subsets and T follicular helper cells in myasthenia gravis thymus,
第60回日本神経学会学術大会, May 2019. 和泉唯信 :
筋萎縮性側索硬化症はシヌクレイノパチーよりたこつぼ症候群を発症しやすい,
第60回日本神経学会学術大会, 2019年5月. 松原知康, 織田雅也, 瓦井俊孝, 梶龍兒, 和泉唯信 :
徳島県・広島県における筋萎縮性側索硬化症診断の実証的研究,
第60回日本神経学会学術大会, 2019年5月. Toshitaka Kawarai, Ryosuke Miyamoto, Takashi Sakamoto, Yuishin Izumi and Ryuji Kaji :
Reverse phenotyping of 64 cases of genetically confirmed combined/comp lex dystonia,
60th Annual Meeting of the Japanese Society of Neurology, May 2019. 林二三男, 酒井紀典, 西良浩一, 宮本亮介, 和泉唯信, 梶龍兒 :
神経内科と脊椎外科の境界領域疾患診断に対する取り組み,
第132回中部日本整形外科災害外科学会学術集会, 2019年4月. 山本伸昭, 黒田一駿, 山本雄貴, 石原学, 高麗雅章, 島田健司, 兼松康久, 和泉唯信, 髙木康志 :
Tandem Occlusion患者に対する血管内治療(Simultaneous Approach),
第44回日本脳卒中学会学術集会, 2019年3月. 山本雄貴, 山本伸昭, 黒田一駿, 高麗雅章, 岡﨑敏之, 島田健司, 兼松康久, 和泉唯信, 髙木康志 :
血栓回収療法後の造影剤腎症は白血球数高値と関連する,
第44回日本脳卒中学会学術集会, 2019年3月. 山本雄貴, 山本伸昭, 黒田一駿, 福本竜也, 石原学, 高麗雅章, 島田健司, 兼松康久, 和泉唯信, 髙木康志 :
治療後に症状増悪した上矢状静脈洞血栓症の一例,
第8回脳血管内治療四国遍路塾, 2019年3月. 山本雄貴, 黒田一駿, 山本伸昭, 鹿草宏, 高麗雅章, 島田健司, 兼松康久, 和泉唯信, 髙木康志 :
頭癌治療中に内頚動脈閉塞を認めた1例,
第21回徳島脳血管障害カンファレンス, 2019年3月. 山本雄貴, 山本伸昭, 黒田一駿, 高麗雅章, 岡﨑敏之, 島田健司, 兼松康久, 和泉唯信, 髙木康志 :
塞栓回収療法後の造影剤腎症についての検討,
第21回徳島脳卒中研究会, 2019年2月. 福本竜也, 宮本亮介, 山﨑博輝, 村上永尚, 大崎裕亮, 藤田浩司, 野寺裕之, 瓦井俊孝, 和泉唯信, 梶龍兒 :
特異な歩行障害を呈したGerstmann-Straussler-Scheinker病の31歳男性,
第105回日本神経学会中国・四国地方会, 2018年12月. 高橋美和, 松井尚子, 石田光代, 岡本秀樹, 福田直也, 芝麗, 泉千恵, 河野綾, 桑内敬子, 井口和子, 和泉唯信, 梶龍兒, 香美祥二 :
障がい者福祉からみた難病・小児慢性特定疾病支援におけるジレンマ,
第6回日本難病医療ネットワーク学会学術集会, 2018年11月. 高松直子, 野寺裕之, 瓦井俊孝, 山崎博輝, 森敦子, 大崎裕亮, 垂髪祐樹, 和泉唯信, 梶龍兒 :
-PMP221,
第48回日本臨床神経生理学会学術大会, 2018年11月. Toshitaka Kawarai, Ryosuke Miyamoto, Takashi Sakamoto, Antonio Orlacchio, Yuishin Izumi and Ryuji Kaji :
Molecular Epidemiology of Dystonia in Japan,
The 63rd Annual Meeting of the Japan Society of Human Genetics, Oct. 2018. 和泉唯信, 高田忠幸, 宮本亮介, 瓦井俊孝, 野寺裕之, 村山繁雄, 梶龍兒 :
subclinicalレビー小体病を合併した筋萎縮性側索硬化症の1例,
第104回日本神経学会中国・四国地方会, 2018年6月. Yamamoto Yohhei, Naoko Matsui, Kazuya Kondo, Izumi Ohigashi, Yousuke Takahama, Nakagawa Hidewaki, Yuishin Izumi and Ryuji Kaji :
Analysis of human thymic epithelial cells,
第59回日本神経学会学術大会, May 2018. 松原知康, 織田雅也, 伊藤聖, 倉重毅志, 渡辺千種, 瓦井俊孝, 宮本亮介, 横田修, 原口俊, 寺田整司, 村山繁雄, 和泉唯信 :
SOD1遺伝子L126S変異を伴う家族性筋萎縮性側索硬化症の臨床,病理学的特徴に関する検討,
第59回日本神経学会学術大会, 2018年5月. Toshitaka Kawarai, Ryosuke Miyamoto, Takashi Sakamoto, Yuishin Izumi and Ryuji Kaji :
Cohort profile of the Japan Dystonia Consortium:Molecular Epidemiology of Dystonia in Japan,
59th Annual Meeting of the Japanese Society of Neurology, May 2018. 庄野健児, 里見淳一郎, 多田恵曜, 兼松康久, 山本伸昭, 和泉唯信, 梶龍兒, 原田雅史, 永廣信治, 髙木康志 :
Optimal timing of DWI to avoid false-negative findings in patients with TIA,
第41回日本脳神経CI学会総会, 2018年3月. 黒田一駿, 宮本亮介, 村上永尚, 瓦井俊孝, 和泉唯信, 梶龍兒 :
長期間経過観察しえたchoreaとmyoclonusを含む不随意運動症例,
第105回日本神経学会中国・四国地方会, 2018年2月. 山上圭, 古川貴大, 村上永尚, 松井尚子, 和泉唯信, 梶龍兒 :
未治療の全身性サルコイドーシスに合併した進行性多巣性白質脳症,
第22回日本神経感染症学会, 2017年10月. 高橋美和, 松井尚子, 石田光代, 桑内敬子, 鈴木察子, 香美祥二, 和泉唯信, 梶龍兒 :
障がい者福祉からみた難病・小児慢性特定疾病の実態調査,
第5回日本難病医療ネットワーク学会学術集会, 2017年9月. Hanada Kenta, Naoko Matsui, Hiroyuki Nodera, Kuzume Daisuke, Kenta Sato, Iwasa Naoki, Unai Yuki, Saka Waka, Yoshimichi Miyazaki, Yamazaki Hiroki, Yusuke Osaki, Takahiro Furukawa, Yamasaki Masahiro, Yuishin Izumi, Kusunoki Susumu, Kokichi Arisawa and Ryuji Kaji :
Guillain-Barre syndrome in a local area in Japan, 2006-2015: An epidemiological and clinical study of 108 patients,
XX World Congress of Neurology, Sep. 2017. Wataru Sako, Takashi Abe, Yuishin Izumi, Naoko Matsui, Masafumi Harada and Ryuji Kaji :
The local neuronal activity associated with GABA in amyotrophic lateral sclerosis,
第40回日本神経科学大会, Jul. 2017. 山本伸昭, 和泉唯信, 梶龍兒, 里見淳一郎, 永廣信治 :
硬膜動静脈瘻ASLの有用性,
日本脳卒中学会学術集会, 2017年3月. 山本雄貴, 山本伸昭, 和泉唯信, 梶龍兒, 山口泉, 吉岡正太郎, 木内智也, 兼松康久, 里見淳一郎, 永廣信治 :
超高齢者に対する急性血行再建治療,
第32回NPO法人日本脳神経血管内治療学会学術総会, 2016年11月. 山本伸昭, 山本雄輝, 和泉唯信, 梶龍兒, 山口泉, 木内智也, 兼松康久, 里見淳一郎, 永廣信治 :
ASLのCranial Dural Arteriovenous Fistula 診断における有用性,
第32回NPO法人日本脳神経血管内治療学会学術総会, 2016年11月. 石田光代, 松井尚子, 高橋美和, 杉原治美, 和泉唯信, 西田喜彦, 梶龍兒 :
就労可能な難病患者における共通特性の検討,
第4回日本難病医療ネットワーク学会学術集会, 113, 2016年11月. 佐光亘, 阿部考志, 原田雅史, 和泉唯信, 梶龍兒 :
筋萎縮性側索硬化症における脳機能ネットワーク独立性の消失,
第46回日本臨床神経生理学会学術大会, 2016年10月. 松井尚子, 山崎博輝, 中村信元, 和泉唯信, 中道一生, 西條政幸, 梶龍兒 :
非HIV関連進行性多巣性白質脳症の3例,
第21回日本神経感染症学会, 228, 2016年10月. 佐光亘, 村上永尚, 和泉唯信, 梶龍兒 :
上小脳脚異常に基づくパーキンソン症候群鑑別,
第10回パーキンソン病・運動障害疾患コングレス, 2016年10月. 鎌田正紀, 中根俊成, 松井尚子, 樋口理, 酒井和香, 藤田浩司, 和泉唯信, 松尾秀徳, 梶龍兒 :
抗MuSK抗体陽性の眼筋型重症筋無力症,
第28回日本神経免疫学会学術集会, 172, 2016年9月. Wataru Sako, Takashi Abe, Masafumi Harada, Yuishin Izumi and 梶龍兒 :
The effect of corticospinal fiber integrity on spontaneous brain activity in the sensorimotor cortex in amyotrophic lateral sclerosis,
第39回日本神経科学大会, Jul. 2016. 高橋拓, 垂髪祐樹, 山崎博輝, 古川貴大, 山本伸昭, 松井尚子, 和泉唯信, 梶龍兒 :
発作性心房細動，心筋症を合併した抗ミトコンドリア抗体陽性筋炎の一例,
第100回日本神経学会中国四国地方会, 73, 2016年6月. 山本雄貴, 松井尚子, 平松有, 垂髪祐樹, 大崎裕亮, 宮﨑由道, 野寺裕之, 西野一三, 和泉唯信, 高嶋博, 梶龍兒 :
末梢神経障害が目立ち，診断に苦慮した遅発型三頭酵素欠損症の60歳男性例,
第100回日本神経学会中国四国地方会, 47, 2016年6月. 杉原治美, 松井尚子, 岡本秀樹, 井口和子, 鈴木察子, 和泉唯信, 梶龍兒 :
神経難病における支援ネットワークつくりー大学病院の立場から,
第57回日本神経学会学術大会, 395, 2016年5月. Toshitaka Kawarai, Fujita Koji, Yuishin Izumi, Yoshida Mari and Ryuji Kaji :
Clinicopathological features of HMSN-P in the Kansai area of Japan,
The 57th Annual Meeting of the Japanese Society of Neurology, May 2016.

(キーワード): HMSN-P

Oki Ryosuke, Tanabe Akie, Toshitaka Kawarai, Oka Nobuyuki, Yuishin Izumi and Ryuji Kaji :
Animal model of HMSN-P,
The 57th Annual Meeting of the Japanese Society of Neurology, May 2016.

(キーワード): HMSN-P

松井尚子, 野寺裕之, 高松直子, 寺澤由佳, 森敦子, 島谷佳光, 大崎裕亮, 丸山サラデイーニ恵子, 和泉唯信, 梶龍兒 :
下腿三頭筋におけるエコー輝度の解離は封入体筋炎に特徴的である,
第57日本神経学会学術大会, 657, 2016年5月. 石田光代, 松井尚子, 橋口修二, 和泉唯信, 西田喜彦, 梶龍兒 :
徳島難病患者における就労状況の現状と課題,
第57日本神経学会学術大会, 675, 2016年5月. 古川貴大, 松井尚子, 宮本亮介, 佐光亘, 山本伸昭, 和泉唯信, 高橋幸利, 梶龍兒 :
成人発症の片側大脳萎縮症の臨床像の検討,
第57日本神経学会学術大会, 639, 2016年5月. 佐光亘, 阿部考志, 原田雅史, 和泉唯信, 梶龍兒 :
筋萎縮性側索硬化症における低周波帯域の安静時脳機能MRI信号変化とFA値の関係,
第57回日本神経学会学術大会, 2016年5月. 山上圭, 和泉唯信, 内野彰子, 武藤浩平, 梶誠兒, 宮本亮介, 瓦井俊孝, 村山繁雄, 梶龍兒 :
補助呼吸なしに22年生存した筋萎縮性側索硬化症の男性例,
第111回日本神経病理学会関東地方会, 2015年12月. Toshitaka Kawarai, Ryosuke Miyamoto, Yoshimitsu Shimatani, Oki Ryosuke, Orlacchio Antonio, Yuishin Izumi, Nishida Yoshihiko, Adachi Katsuhiko and Ryuji Kaji :
Three sibships showing various involuntary movements by a novel homozygous STUB1 gene mutation.,
60th Annual Meeting of the Japan Society of Human Genetics, Dec. 2015. 沖良祐, 瓦井俊孝, 宮本亮介, 森敦子, 塚本愛, 松井尚子, 宮﨑由道, 和泉唯信, 西田善彦, 梶龍兒 :
30歳を過ぎて痙性対麻痺および痙性構音障害が顕在化した新規SPG11変異を持つ同胞例,
第99回日本神経学会中国・四国地方会, 2015年12月. 山本伸昭, 和泉唯信, 梶龍兒, 曽我部周, 吉岡正太郎, 桑山一行, 里見淳一郎, 永廣信治 :
主幹動脈閉塞患者における急性血行再建成功例における予後規定因子,
第31回NPO法人日本脳神経血管内治療学会学術総会, 2015年11月. 和泉唯信, 隅蔵大幸, 織田雅也, 瓦井俊孝, 長谷川成人, 梶龍兒, 村山繁雄 :
半年間で急激な側頭葉萎縮を呈した広汎型筋萎縮性側索硬化症の1剖検例,
第43回臨床神経病理懇話会・第12回日本神経病理学会近畿地方会, 2015年11月. 大崎裕亮, 野寺裕之, 和泉唯信, 沖良祐, 宮本亮介, 瓦井俊孝, 川上秀史, 梶龍兒 :
兒 spinocerebellar ataxia type 6 患者の末梢神経は軸索膜のslow K+ current増加を示す,
第45回日本臨牀生理学会学術大会, 2015年11月. 佐光亘, 阿部考志, 原田雅史, 和泉唯信, 梶龍兒 :
筋萎縮性側索硬化症における低周波帯域の安静時脳機能MRI信号変化,
第45回日本臨床神経生理学会学術大会, 2015年11月. 佐光亘, 村上永尚, 宮﨑由道, 阿部考志, 原田雅史, 和泉唯信, 梶龍兒 :
パーキンソン病における振戦発症の中小脳脚への影響,
第9回パーキンソン病・運動障害疾患コングレス, 2015年10月. 宮﨑由道, 上原康三, 西田善彦, 和泉唯信, 梶龍兒 :
高齢筋萎縮性側索硬化症患者で長期経管栄養中に発症した，銅欠乏性貧血・顆粒球減少症の1例,
日本老年医学会雑誌, Vol.52, No.4, 454-455, 2015年10月. 宮﨑由道, 宮本亮介, 山本伸昭, 和泉唯信, 梶龍兒 :
パーキンソン病患者における運動/非運動合併症の誘発危険因子の検討,
パーキンソン病・運動障害疾患コングレスプログラム・抄録集, 100, 2015年10月.

(キーワード): 危険因子幻覚(病因) 振戦(病因) *Parkinson病(合併症) 妄想(病因) ヒト

松井尚子, 酒井和香, 古川貴大, 和泉唯信, 梶龍兒 :
後期発症MGの臨床像,
神経免疫学, Vol.20, No.1, 140, 2015年9月. 佐光亘, Murakami Nagahisa, 宮﨑由道, 阿部考志, 原田雅史, 和泉唯信, 梶龍兒 :
The effect of tremor onset on middle cerebellar peduncle of Parkinsons disease,
第38回日本神経科学大会, 2015年7月. 野田和克, 山崎博輝, 松井尚子, 塚本愛, 中道一生, 和泉唯信, 梶龍兒 :
治療が奏功した非HIV関連進行性多巣性白質脳症の2例,
第98回日本神経学会中国・四国地方会, 2015年6月. 和泉唯信, 塚本愛, 澤村正典, 山本伸昭, 織田雅也, 小川博久, 瓦井俊孝, 佐田政隆, 宇高不可思, 梶龍兒 :
たこつぼ型心筋症を合併した筋萎縮性側索硬化症の2例,
第2回日本心血管脳卒中学会学術集会, 2015年6月. 山本伸昭, 多田恵曜, 里見淳一郎, 和泉唯信, 原田雅史, 永廣信治, 梶龍兒 :
The two-layered susceptibility vessel sign on 3-tesla T2*-weighted imaging is a predictive biomarker of stroke subtype,
2015年心血管脳卒中学術総会, 2015年6月. 山下雄也, 山崎博輝, 宮﨑由道, 塚本愛, 松井尚子, 和泉唯信, 梶龍兒, 西田善彦, 鈴木重明 :
免疫治療が著効した抗SRP抗体陽性ミオパチーの1例,
第112回日本内科学会四国地方会, 2015年6月. 宮﨑由道, 和泉唯信 :
高齢PD患者に対するドパミンアゴニスト製剤治療,
日本老年医学会雑誌, Vol.52, No.Suppl., 79, 2015年6月. 大崎裕亮, 宮本亮介, 野寺裕之, 瓦井俊孝, 和泉唯信, 梶龍兒 :
中年期に発症し重症度に性差を認めたdistal hereditary motor neuropathy家系の臨床遺伝学的検討,
第56回日本神経学会学術大会, 2015年5月. 沖良祐, 大崎裕亮, 宮本亮介, 佐光亘, 野寺裕之, 瓦井俊孝, 和泉唯信, 梶龍兒 :
SCA14(L121P)1,
第56回日本神経学会学術大会, 2015年5月. 和泉唯信, 隅蔵大幸, 宇髙不可思, 武内俊明, 藤田浩司, 野寺裕之, 瓦井俊孝, 村山繁雄, 梶龍兒 :
進行性核上性麻痺が先行した筋萎縮性側索硬化症2例の臨床病理学的検討,
第56回日本神経学会学術大会, 2015年5月. Ryosuke Miyamoto, Toshitaka Kawarai, Oki Ryosuke, Kaji Seiji, Yoshimichi Miyazaki, Yuishin Izumi and Ryuji Kaji :
A Japanses family of hereditary geniospasm (chin trembling).,
56th Annual Meeting of the Japanese Society of Neurology, May 2015. Kaji Seiji, Toshitaka Kawarai, Oki Ryosuke, Osaki Yusuke, Ryosuke Miyamoto, Wataru Sako, Yuishin Izumi and Ryuji Kaji :
Hereditary Diffuse Leukoencephalopathy with Spheroids: A Hidden Culprit.,
56th Annual Meeting of the Japanese Society of Neurology, May 2015. Toshitaka Kawarai, Ryosuke Miyamoto, Tamura Asako, Takashi Abe, Funakoshi Yasuhiro, Orlacchio Antonio, Oki Ryosuke, Hideo Mure, Ryoma Morigaki, Satoshi Goto, Yuishin Izumi, Naito Hiroshi, Tomimoto Hidekazu and Ryuji Kaji :
Germline mosaicism of TUBB4A mutation causes dystonia in two siblings.,
56th Annual Meeting of the Japanese Society of Neurology, May 2015. Oki Ryosuke, Kaji Seiji, Osaki Ryosuke, Ryosuke Miyamoto, Nobuaki Yamamoto, Fujita Koji, Toshitaka Kawarai, Yuishin Izumi and Ryuji Kaji :
Clinical feature of hereditary diffuse leukoencephalopathy with spheroids (HDLS) in Japan.,
The 40th Annual Meeting of the Japan Stroke Society., Mar. 2015. 山本伸昭, 寺澤由佳, 酒井和香, 和泉唯信, 梶龍兒, 里見淳一郎, 永廣信治, 原田雅史 :
Small vessel occlusion患者の神経症状増悪の予測因子,
第40回日本脳卒中学会総会, 2015年3月. 武藤浩平, 酒井和香, 松井尚子, 沖良祐, 梶誠兒, 武内俊明, 丸山恵子, 大崎裕亮, 山本伸昭, 宮城愛, 野寺裕之, 樋口理, 和泉唯信, 梶龍兒 :
当初ALSを疑われた高齢発症抗MuSK抗体陽性MGの一例,
第97回日本神経学会中国・四国地方会, 2014年12月. 山本伸昭, 和泉唯信, 梶龍兒, 里見淳一郎, 多田恵曜, 永廣信治 :
頸動脈ステント留置後のIn stent plaqueの予測因子,
第30回日本脳神経血管内治療学術総会, 2014年12月. 曽我部周, 多田恵曜, 桑山一行, 里見淳一郎, 永廣信治, 山本伸昭, 和泉唯信 :
小脳萎縮をきたした横静脈洞―S状静脈洞部硬膜動静脈瘻の一例,
第30回日本脳神経血管内治療学術総会, 2014年12月. 山本伸昭, 和泉唯信, 梶龍兒, 曽我部周, 多田恵曜, 桑山一行, 里見淳一郎, 永廣信治 :
The high-intense signal on maximum intensity projection images (MIP) of time-of-flight (TOF) magnetic resonance angiography (MRA) can be a predictor of plaque-in-stent after carotid artery stenting,
2014年脳血管内治療学会総会, 2014年12月. 竹内俊明, 宮本亮介, 大崎裕亮, 山本伸昭, 藤田浩司, 松井尚子, 和泉唯信, 梶龍兒 :
弛緩性麻痺と不随意運動を呈した日本脳炎の一例,
第111回日本内科学会四国地方会, 2014年11月. 永廣信治, 里見淳一郎, 桑山一行, 曽我部周, 山本伸昭, 和泉唯信, 梶龍兒 :
Floating thrombus を認め，進行性の経過を呈した頸動脈高度狭窄の1例,
第16回中国四国脳卒中研究会, 2014年9月. 沖良祐, 藤田浩司, 松井尚子, 村上永尚, 宮本亮介, 宮﨑由道, 和泉唯信, 梶龍兒 :
高齢発症破傷風例の治療経験を通じた本邦破傷風診療に関する提言,
第19回日本神経感染症学会総会, 2014年9月. 大崎裕亮, 松井尚子, 葛目大輔, 藤田浩司, 野寺裕之, 尾本雅俊, 海田賢一, 和泉唯信, 神田隆, 梶龍兒 :
抗Neurofascin抗体陽性Lewis-Sumner症候群の1例,
第96回日本神経学会中国・四国地方会, 2014年6月. 高松直子, 森敦子, 野寺裕之, 島谷佳光, 和泉唯信, 西尾進, 山尾雅美, 鳥居裕太, 山田博胤, 佐田政隆 :
筋萎縮性側索硬化症の診断における神経超音波検査の有用性,
第87回日本超音波医学会学術集会, 2014年5月. 山本伸昭, 寺澤由佳, 藤田浩司, 和泉唯信, 梶龍兒, 森垣龍馬, 多田恵曜, 里見淳一郎, 永廣信治 :
急性期虚血性脳卒中患者のT2*強調画像所見とその変化,
2014年脳卒中学会総会, 2014年3月. 山本伸昭, 里見淳一郎, 寺澤由佳, 曽我部周, 中島公平, 佐藤泰仁, 坂東一彦, 阿川昌仁, 浅野登, 本藤秀樹, 和泉唯信, 梶龍兒, 永廣信治 :
脳梗塞発症後早期からの抗血小板薬使用が予後に及ぼす影響の検討,
2014年脳卒中学会総会, 2014年3月. 山本伸昭, 寺澤由佳, 藤田浩司, 和泉唯信, 梶龍兒, 森垣龍馬, 多田恵曜, 里見淳一郎, 永廣信治 :
急性期虚血性脳卒中患者のT2*強調画像所見とその変化,
第39回日本脳卒中学会総会, 2014年3月. 松井尚子, 酒井和香, 和泉唯信, 西田善彦, 梶龍兒 :
老年発症重症筋無力症の治療戦略,
第25回日本老年医学会四国地方会, 2014年2月. 山本伸昭, 寺澤由佳, 藤田浩司, 和泉唯信, 梶龍兒, 森垣龍馬, 里見淳一郎, 永廣信治, 原田雅史 :
主幹動脈閉塞に伴う虚血性脳卒中における3T-MR T2*-weighted image所見とその変化,
第16回徳島脳卒中研究会, 2014年2月. 宮﨑由道, 宮本亮介, 宮城愛, 藤田浩司, 和泉唯信, 梶龍兒 :
塩酸ドネペジルにて歩行障害の改善を見たiNPHの一例,
パーキンソン病・運動障害疾患コングレスプログラム・抄録集, 105, 2014年.

(キーワード): *水頭症-正常圧(合併症,診断,薬物療法) *歩行障害-神経性(病因,診断,薬物療法) *Donepezil(治療的利用) *すくみ足歩行(病因,診断,薬物療法) ヒト高齢者(65~79) 男

宮﨑由道, 瓦井俊孝, 中村和己, 大崎裕亮, 野寺裕之, 和泉唯信, 梶龍兒 :
家族性脊髄小脳変性症(SCA15)に対する反復経頭蓋磁気刺激の治療効果,
臨床神経生理学, Vol.42, No.5, 329, 2014年.

(キーワード): *脊髄小脳変性症(治療) 治療成績きょうだい *経頭蓋磁気刺激ヒト女

宮﨑由道, 鎌田正紀, 藤田浩司, 松井尚子, 和泉唯信, 村山繁雄, 梶龍兒 :
急激な経過をたどったLymphomatosis cerebriの1例,
第109回日本内科学会四国地方会, 2013年12月. 藤田浩司, 湯浅龍彦, 高橋幸利, 田中恵子, 岩崎靖, 松井尚子, 和泉唯信, 梶龍兒 :
抗NMDA受容体抗体陽性のCreutzfeldt-Jakob病と免疫関連脳炎の鑑別,
第25回日本神経免疫学会学術集会, 2013年11月. 松井尚子, 古川貴大, 藤田浩司, 宮﨑由道, 佐藤健太, 和泉唯信, 西田善彦, 梶龍兒 :
Fingolimodはrecent thymic emigrantへの影響,
第25回日本神経免疫学会学術集会, 2013年11月. 山本伸昭, 寺澤由佳, 和泉唯信, 梶龍兒, 里見淳一郎, 兼松康久, 永廣信治 :
CAS後ステント内プラークの頻度および予測因子 -頸動脈エコーによる追跡-,
第32回日本脳神経超音波学会総会, 2013年6月. 松井尚子, 古川貴大, 宮﨑由道, 寺澤由佳, 和泉唯信, 西田善彦, 梶龍兒 :
Fingolimodは重症筋無力症の治療となりうるか?,
第54回日本神経学会学術大会, 2013年5月. 山本伸昭, 酒井和香, 寺澤由佳, 和泉唯信, 梶龍兒, 里見淳一郎, 永廣信治 :
small vessel diseaseの進行予測,
第15回徳島脳血管障害カンファレンス, 2013年4月. 寺澤由佳, 山本伸昭, 和泉唯信, 梶龍兒, 里見淳一郎, 兼松康久, 永廣信治 :
CAS後ステント内プラークの頻度および予測因子-超音波エコーによる追跡-,
第38回日本脳卒中学会総会, 2013年3月. 宮﨑由道, 和泉唯信 :
高齢発症ジストニア患者の特徴,
日本老年医学会雑誌, Vol.50, No.Suppl., 119, 2013年.

(キーワード): Botulinum Toxins / ジストニア / Cholinergic Antagonists / 注射 / 経口投与 / 高齢者 / 脳深部刺激 / ヒト / 高齢者(65~79)

宮﨑由道, 和泉唯信 :
高齢発症PD患者の予後,
日本老年医学会雑誌, Vol.50, No.Suppl., 47, 2013年.

(キーワード): Parkinson病 / 高齢者 / ヒト / 高齢者(65~79)

宮﨑由道, 和泉唯信 :
不幸な転機をたどったアルツハイマー型認知症の1例,
日本老年医学会雑誌, Vol.50, No.5, 695, 2013年.

(キーワード): Alzheimer病 / 肺炎-嚥下性 / 致死的転帰 / ヒト高齢者(80~) 男

宮﨑由道, 佐藤健太, 藤田浩司, 和泉唯信, 梶龍兒 :
早期PD患者のMIBG心筋シンチとwearing-off発症の関連,
臨床神経学, Vol.53, No.12, 1613, 2013年.

(キーワード): *Parkinson病(放射性核種診断) *薬物反応性低下 *Iobenguane(診断的利用) *心筋血流イメージング *Wearing-off現象ヒト

Toshitaka Kawarai, Mitsuya Morita, Ryoma Morigaki, Koji Fujita, Hiroyuki Nodera, Yuishin Izumi, Satoshi Goto, Imaharu Nakano and Ryuji Kaji :
Pathomechanisms of motor neuron death by mutant TFG.,
Clinical Neurology, Vol.23, No.11, 1199, 2013.

(要約): Mutations in TFG gene have been demonstrated in hereditary motor and sensory neuropathy with proximal dominant involvement (HMSN-P) and hereditary spastic paraplegia (HSP). A broad spectrum of TFG pathology is suspected in motor neuron diseases including amyotrophic lateral sclerosis (ALS). We performed mutation screening of TFG gene in ALS cases and evaluated the biological functions of mutant TFG by expression experiment in cultured cells. Two missense mutations associated with sporadic ALS were discovered. Mislocalization of ALS-related proteins, including TDP-43 and optineurin, was demonstrated. These results indicate that mistrafficking of ALS-related proteins by mutant TFG might be a biological cascade leading to motor neuron death.
(キーワード): Humans / Mutation, Missense / Proteins / Spastic Paraplegia, Hereditary
(出版サイトへのリンク): ● Publication site (DOI): 10.5692/clinicalneurol.53.1199
(文献検索サイトへのリンク): ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 24291928; ● Summary page in Scopus @ Elsevier: 2-s2.0-84891811182

(DOI: 10.5692/clinicalneurol.53.1199, PubMed: 24291928, Elsevier: Scopus) 古川貴大, 藤田浩司, 和泉唯信, 清水文崇, 宮本勝一, 高橋幸利, 神田隆, 楠進, 梶龍兒 :
MMNおよびALSにおけるサイトカイン・プロファイル,
第24回日本神経免疫学会学術集会, 2012年9月. 酒井和香, 松井尚子, 寺澤由佳, 藤田浩司, 佐藤健太, 鎌田正紀, 和泉唯信, 梶龍兒 :
50歳以上発症重症筋無力症における臨床像 64歳迄vs65歳以上,
第53回日本神経学会学術大会, 2012年5月. 瓦井俊孝, 佐治直樹, 寺澤英夫, 清水洋孝, 喜多也寸志, 田嶋敦, 井本逸勢, 和泉唯信, 梶龍兒 :
精神発育遅滞を伴う家族性小脳変性症の臨床遺伝学的研究,
第53回日本神経学会学術大会, 2012年5月. 宮﨑由道, 和泉唯信 :
50歳以上発症の重症筋無力症における臨床像 64歳迄vs 65歳以上,
日本老年医学会雑誌, Vol.49, No.Suppl., 117, 2012年.

(キーワード): 重症筋無力症 / 発病年齢 / ヒト中年(45~64) / 高齢者(65~79)

宮﨑由道, 和泉唯信 :
高齢発症軸索型ギランバレー症候群の1例,
日本老年医学会雑誌, Vol.49, No.6, 828, 2012年.

(キーワード): 軸索 / Guillain-Barre症候群 / ヒト高齢者(80~) 女

宮﨑由道, 中村和己, 佐藤健太, 鎌田正紀, 瓦井俊孝, 和泉唯信, 梶龍兒, 出口一志, 石川欽也, 水澤英洋 :
家族性脊髄小脳変性症(SCA15)の1家系,
臨床神経学, Vol.52, No.6, 450, 2012年.

(キーワード): Wechsler知能検査血統活動電位 MRI *脊髄小脳変性症(診断) 体性感覚誘発電位遺伝学的検査ヒト中年(45~64) 女

香川聖子, 工藤英治, 香川典子, 伊藤秀文, 和泉唯信 :
optineurin遺伝子変異を認めた家族性筋委縮性側索硬化症(ALS)の1剖検例,
日本病理学会会誌, Vol.100, No.1, 395, 2011年4月. 香川聖子, 工藤英治, 伊東秀文, 和泉唯信 :
optineurin遺伝子変異を見とけた家族性筋委縮性側索硬化症(ALS)の1剖検例,
日本病理学会誌, Vol.100, No.1, 395, 2011年4月. 山本伸昭, 酒井和香, 宮本亮介, 宮城愛, 佐藤健太, 寺澤由佳, 松井尚子, 浅沼光太郎, 和泉唯信, 梶龍兒 :
高齢発症のNeuromyelitis optica(NMO)についての検討,
臨床神経学, Vol.51, No.2, 154, 2011年2月.

(キーワード): *視神経脊髄炎 / ヒト (Homo sapiens)

宮本亮介, 山本伸昭, 宮城愛, 寺澤由佳, 佐藤健太, 松井尚子, 浅沼光太郎, 和泉唯信, 梶龍兒 :
遷延する膀胱直腸障害を主徴としたataxic sensory-autonomic neuropathyの一例,
臨床神経学, Vol.51, No.2, 157, 2011年2月.

(キーワード): IgG(治療的利用); *運動失調症(診断,合併症,薬物療法); *神経系疾患(診断,合併症,薬物療法); *直腸疾患(病因); *膀胱疾患(病因); 静脈内注入 / 神経伝導速度 / ヒト; 成人(19∼44); 女

宮﨑由道, 宮城愛, 山本伸昭, 佐藤健太, 寺澤由佳, 松井尚子, 浅沼光太郎, 和泉唯信, 梶龍兒 :
t-PA治療が奏功した超高齢発症脳梗塞の2例,
日本老年医学会雑誌, Vol.48, No.4, 418, 2011年.

(キーワード): *脳梗塞(薬物療法) *Tissue Plasminogen Activator(治療的利用) ヒト高齢者(80~) 女

宮﨑由道, 佐光亘, 浅沼光太郎, 和泉唯信, 梶龍兒 :
ゾルピデムによるジストニアの治療,
臨床神経学, Vol.51, No.12, 1435, 2011年.

(キーワード): *ジストニア(薬物療法) *Zolpidem(治療的利用) ヒト

宇高憲吾, 松井尚子, 宮本亮介, 寺澤由佳, 佐藤健太, 浅沼光太郎, 和泉唯信, 梶龍兒, 藤井志朗, 竹内恭子, 安倍正博, 原田雅史 :
多発性骨髄腫の経過中に進行性多巣性白質脳症をきたした一例,
四国医学雑誌, Vol.66, No.5-6, 198, 2010年12月.

(キーワード): Cytarabine(治療的利用); Prednisolone(治療的利用); 自家移植; *骨髄腫-多発性(合併症,治療); *白質脳症-進行性多巣性(合併症,画像診断,薬物療法); Mirtazapine(治療的利用); FLAIR法; 末梢血幹細胞移植 / ヒト; 中年(45∼64); 男

三ツ井貴夫, 牧由紀子, 藤本美希, 乾俊夫, 足立克仁, 和泉唯信, 梶龍兒 :
パーキンおよび関連蛋白による抗アポトーシス作用,
国立病院総合医学会講演抄録集, 339, 2010年11月.

(キーワード): *ニューロン; *膜蛋白質; *アポトーシス; *Ubiquitin-Protein Ligase / *Chondroitin Polymerizing Factor; *Parkin Protein

有井敬治, 三ツ井貴夫, 乾俊夫, 橋口修二, 足立克仁, 渋田佳子, 泰地治男, 和泉唯信, 梶龍兒 :
Parkinson病に対するMentality-oriented rehabilitationの効果,
国立病院総合医学会講演抄録集, 339, 2010年11月.

(キーワード): *Parkinson病(リハビリテーション); リハビリテーション; オーダーメイド医療 / ヒト (Homo sapiens)

山本伸昭, 宮城愛, 寺澤由佳, 佐藤健太, 浅沼光太郎, 和泉唯信, 梶龍兒 :
下肢深部静脈血栓症から両心房内血栓，脳梗塞，肺塞栓を合併した1例,
臨床神経学, Vol.50, No.7, 516, 2010年10月.

(キーワード): 下肢; MRI; 心エコー図; 脳梗塞(病因,画像診断); *肺塞栓症(病因,画像診断); *静脈血栓症(合併症,画像診断); *心房内血栓症(病因,超音波診断) / ヒト; 成人(19∼44); 女

宮城愛, 寺澤由佳, 松井尚子, 山本伸昭, 佐藤健太, 浅沼光太郎, 和泉唯信, 梶龍兒 :
ステロイド投与が奏功した卵巣奇形腫を伴う抗グルタミン酸受容体抗体陽性脳炎の1例,
臨床神経学, Vol.50, No.7, 517, 2010年10月.

(キーワード): *Methylprednisolone(治療的利用); 奇形腫(診断); *抗体(血液); 卵巣腫瘍(診断); *Glutamate Receptors; *脳炎-辺縁系(診断,免疫学,薬物療法); パルス療法(薬物療法) / ヒト; 成人(19∼44); 女

宮城愛, 渋田佳子, ハンドンムハメド, 浅沼光太郎, 和泉唯信, 梶龍兒 :
Riche-Cannieu吻合の1例,
臨床神経生理学, Vol.38, No.5, 321, 2010年10月.

(キーワード): 活動電位; 尺骨神経; *神経系奇形(診断); 正中神経 / *Martin-Gruber吻合(診断); 運動神経; 神経伝導速度 / ヒト; 成人(19∼44); 男

島谷佳光, 松井尚子, 宮城愛, 浅沼光太郎, 藤田浩司, 寺澤由佳, 佐藤健太, 和泉唯信, 梶龍兒 :
Neuromyelitis opticaにおけるVEPの検討,
臨床神経生理学, Vol.38, No.5, 330, 2010年10月.

(キーワード): *視神経脊髄炎; *視覚誘発電位 / ヒト (Homo sapiens)

水越愛, 伊藤聖, 織田雅也, 日地正典, 和泉唯信, 梶龍兒 :
NIによるALS患者に対するメチルコバラミン大量投与の短期的効果評価,
臨床神経生理学, Vol.38, No.5, 330, 2010年10月.

(キーワード): *筋萎縮性側索硬化症(薬物療法); 治療成績; 大量薬物療法; *Mecobalamin(治療的利用) / ヒト (Homo sapiens)

高松直子, 寺澤由佳, 山本伸昭, 佐藤健太, 宮本亮介, 宮城愛, 島谷佳光, 松井尚子, 浅沼光太郎, 和泉唯信, 梶龍兒 :
超音波所見が診断に有用であった筋サルコイドーシスの1例,
臨床神経生理学, Vol.38, No.5, 333, 2010年10月.

(キーワード): 眼筋; *眼瞼下垂(病因); 超音波診断; *サルコイドーシス(合併症); *筋力低下(病因) / ヒト; 中年(45∼64); 女

鎌田正紀, 中根俊成, 和泉唯信, 梶龍兒 :
アルツハイマー病(AD)に正常圧水頭症(NPH)が合併していると考えられた1例,
日本老年医学会雑誌, Vol.47, No.4, 337, 2010年7月.

(キーワード): *Alzheimer病(合併症); *水頭症-正常圧(合併症) / ヒト; 高齢者(65∼79); 男

宮崎由道, 浅沼光太郎, 野寺裕之, 和泉唯信, 梶龍兒 :
認知症が長期先行した筋萎縮性側索硬化症の1例,
日本老年医学会雑誌, Vol.47, No.4, 364, 2010年7月.

(キーワード): *筋萎縮性側索硬化症(合併症); *認知症(病因) / ヒト; 高齢者(65∼79); 男

和泉唯信, 宮城愛, 山本伸昭, 浅沼光太郎, 梶龍兒 :
Riluzole内服中に水疱性類天疱瘡を生じたALSの2例,
神経治療学, Vol.27, No.3, 421, 2010年5月.

(キーワード): *筋萎縮性側索硬化症; 経口投与; *類天疱瘡-水疱性(化学的誘発); *Riluzole(治療的利用,毒性・副作用) / ヒト; 中年(45∼64); 高齢者(65∼79); 男; 女

森田奈緒美, 原田雅史, 里見淳一郎, 和泉唯信, 永廣信治, 梶龍兒, 西谷弘 :
rt-PA投与患者における3T-MRIでのT2*-WI虚血サインと予後の評価,
第39回日本脳卒中の外科学会, 2010年4月. 宮﨑由道, 宮城愛, 島谷佳光, 浅沼光太郎, 野寺裕之, 和泉唯信, 梶龍兒, 川西健登, 丸山博文, 川上秀史 :
SOD1遺伝子変異(G93S)をともなった家族性筋萎縮性側索硬化症の1家系,
臨床神経学, Vol.50, No.3, 193, 2010年.

(キーワード): *Superoxide Dismutase *筋萎縮性側索硬化症(遺伝学,診断) 筋電図変異遺伝学的検査 *Superoxide Dismutase 1 ヒト成人(19~44) 女

宮﨑由道, 和泉唯信 :
高齢者ALS患者の特徴,
日本老年医学会雑誌, Vol.47, No.Suppl., 93, 2010年.

(キーワード): *筋萎縮性側索硬化症(診断) 高齢者ヒト高齢者(65~79) 男女

宮﨑由道, 浅沼光太郎, 野寺裕之, 和泉唯信, 梶龍兒 :
認知症が長期先行した筋萎縮性側索硬化症の1例,
日本老年医学会雑誌, Vol.47, No.4, 364, 2010年.

(キーワード): *筋萎縮性側索硬化症(合併症) *認知症(病因) ヒト高齢者(65~79) 男

宮﨑由道, 山本伸昭, 藤田浩司, 中村和己, 和泉唯信, 梶龍兒 :
脳小血管病変(SVD)はパーキンソン症状を悪化させる,
臨床神経学, Vol.50, No.12, 1248, 2010年.

(キーワード): 血管疾患病勢悪化 *パーキンソニズム(合併症) *脳小血管病(合併症) ヒト

高松直子, 山田博胤, 西尾進, 佐藤光代, 平岡葉月, 楠瀬賢也, 冨田紀子, 和泉唯信, 梶龍兒, 佐田政隆 :
麦角系アルカロイド剤を服用しているパーキンソン病患者の心エコー所見,
第20回日本心エコー図学会学術集会, 2009年4月. 木内智也, 宇野昌明, 西京子, 永廣信治, 和泉唯信, 原田雅史 :
急性期脳梗塞に対するrt-PA療法における3ステラMRIT2強調画像の意義,
第38回日本脳卒中の外科学会, 2009年3月. 宮﨑由道, 和泉唯信, 鎌田正紀, 浅沼光太郎, 野寺裕之, 梶龍兒 :
徳島大学病院の筋萎縮性側索硬化症(ALS)診療の現状と問題点,
臨床神経学, Vol.49, No.12, 1176, 2009年.

(キーワード): *筋萎縮性側索硬化症大学病院ヒト

藤田浩司, 阿部秀一, 和泉唯信, 山田博胤, 森田直美, 原田雅史, 永廣信治, 梶龍兒 :
心筋障害・心房中隔瘤に伴い心原性脳塞栓症を呈したBecker型筋ジストロフィーの1例,
第9回徳島臨床脈管研究会, 2007年9月. 宇野昌明, 森田奈緒美, 原田雅史, 中根俊成, 和泉唯信, 西京子, 永廣信治 :
3T stroke MRIによる脳卒中急性期の画像診断,
第5回日本神経疾患医療・福祉従事者学会, 2007年8月.

研究会・報告書: 松井尚子, 近藤和也, 和泉唯信, 大東いずみ :
正常ヒト胸腺を用いた胸腺上皮細胞のRNA シークエンス解析,
第43回日本胸腺研究会, 2024年2月. 松井尚子, 山﨑博輝, 高松直子, 宮本亮介, 森野豊之, 西野一三, 梶龍兒, 和泉唯信 :
当院で経験したIBM兄弟例,
稀少難治性筋疾患に関する調査研究班「IBM分科会」(令和5年度), 2024年2月. 松井尚子, 田中恵子, 桑原聡, 和泉唯信 :
スティッフパーソン症候群-診断基準の検証とバイオマーカー探索,
神経免疫疾患領域における難病の医療水準と患者のQOL向上に資する研究(神経免疫班)令和5年度合同班会議, 2024年1月. 和泉唯信, 松井尚子, 田中恵子, 佐藤泰憲, 桑原聡 :
アイザックス症候群の全国調査,
神経免疫疾患領域における難病の医療水準と患者のQOL向上に資する研究(神経免疫班) 令和5年度合同班会議, 2024年1月. 多田里穂, 武藤浩平, 松井尚子, 藤田浩司, 和泉唯信 :
散在性の脳実質病変を認め自己免疫性脳炎を疑った一例,
第114回日本神経学会中国・四国地方会, 2023年12月. 梶龍兒, 松井尚子, 山﨑博輝, 高松直子, 山下賢, 西野一三, 和泉唯信 :
当院におけるIBM患者のまとめ,
稀少難治性筋疾患に関する調査研究班「IBM分科会」(令和4年度), 2023年2月. 和泉唯信, 松井尚子, 田中惠子, 佐藤泰憲, 桑原聡 :
アイザックス症候群の全国調査,
神経免疫疾患のエビデンスによる診断基準・重症度分類・ガイドラインの妥当性と患者QOLの検証研究班(神経免疫疾患)政策および実用化研究班令和4年度合同班会議, 2023年1月. 和泉唯信 :
診断後の課題―患者・家族への説明,
令和4年(2022)度神経変性疾患領域の基盤的調査研究班ワークショップ早期の診断，説明，療養支援における課題, 2022年7月. 梶龍兒, 山﨑博輝, 福島功士, 松井尚子, 高松直子, 西野一三, 和泉唯信 :
当院で診断したIBM患者における筋超音波所見の長期的追跡,
稀少難治性筋疾患に関する調査研究班「IBM分科会」(令和3年度), 2022年2月. 山本遥平, 松井尚子, 鵜沢顕之, 桑原聡, 山村隆, 和泉唯信 :
疾患活動性の高い重症筋無力症患者の胸腺ではプラズマブラストが増加している,
神経免疫疾患のエビデンスによる診断基準・重症度分類・ガイドラインの妥当性と患者QOLの検証研究班(神経免疫疾患)政策および実用化研究班令和3年度合同班会議, 2022年1月. 和泉唯信 :
アイザックス症候群・スティッフパーソン症候群:疫学調査,
厚生労働省難治性疾患政策研究班(神経免疫班)AMED難治性疾患実用化研究班令和3年度合同班会議, 2022年1月. 和泉唯信, 松井尚子, 山本遥平, 中村幸志, 栗山長門, 中村好一, 田中恵子, 松井真, 桑原聡 :
アイザックス症候群・スティッフパーソン症候群疫学調査,
神経免疫疾患のエビデンスによる診断基準・重症度分類・ガイドラインの妥当性と患者QOLの検証研究班(神経免疫疾患)政策および実用化研究班令和3年度合同班会議, 2022年1月. 松井尚子, 山本遥平, 大東いずみ, 近藤和也, 和泉唯信 :
重症筋無力症患者の胸腺ではプラズマブラストが増加している,
第40回日本胸腺研究会, 2021年2月. 松井尚子, 高原実香, 西野一三, 梶龍兒, 和泉唯信 :
顕著な嚥下障害をきたした抗NT5C1A抗体陽性高齢女性例,
稀少難治性筋疾患に関する調査研究班「IBM分科会」(令和2年度), 2021年2月. 松井尚子, 山本遥平, 田中恵子, 梶龍兒, 和泉唯信 :
スティッフパーソン症候群全国調査第三報,
神経免疫疾患のエビデンスによる診断基準・重症度分類・ガイドラインの妥当性と患者QOLの検証研究班(神経免疫疾患)政策および実用化研究班令和2年度合同班会議, 2021年1月. 松井尚子, 和泉唯信 :
アイザックス症候群とスティッフパーソン症候群の診断基準と重症度分類,
神経免疫疾患のエビデンスによる診断基準・重症度分類・ガイドラインの妥当性と患者QOLの検証研究班(神経免疫疾患)政策および実用化研究班令和2年度合同班会議, 2021年1月. 松井尚子, 大崎裕亮, 西野一三, 山下賢, 和泉唯信 :
封入体筋炎における抗NT5C1A抗体と臨床像:当院症例について,
稀少難治性筋疾患に関する調査研究班「IBM分科会」(令和元年度) 東北大学医学部星陵会館大会議室, 2020年1月. 松井尚子, 山本遥平, 和泉唯信, 田中惠子, 梶龍兒 :
スティッフパーソン症候群全国調査第二報,
神経免疫疾患のエビデンスによる診断基準・重症度分類・ガイドラインの妥当性と患者QOLの検証研究班(神経免疫疾患)政策および実用化研究班令和元年度合同班会議, 2020年1月. 野寺裕之, 松井尚子, 高松直子, 和泉唯信, 梶龍兒 :
デープラーニングによるIBMおよび類縁疾患の筋エコー画像判別,
稀少難治性筋疾患に関する調査研究班「IBM分科会」(平成30年度), 2019年2月. 山本遥平, 松井尚子, 和泉唯信, 田中惠子, 梶龍兒 :
スティッフパーソン症候群全国調査,
神経免疫疾患のエビデンスによる診断基準・重症度分類・ガイドラインの妥当性と患者QOLの検証研究班(神経免疫疾患)政策および実用化研究班平成30年度合同班会議, 2019年1月. 松井尚子, 野寺裕之, 高松直子, 和泉唯信, 梶龍兒 :
当施設における封入体筋炎のアップデート,
稀少難治性筋疾患に関する調査研究班「IBM分科会」(平成29年度), 2018年2月. 山本雄貴, 山本伸昭, 和泉唯信, 山口泉, 高麗雅章, 木内智也, 兼松康久, 里見淳一郎, 永廣信治 :
頭蓋頚椎移行部 Perimedullary AVF の血管内治療例,
第19回徳島脳血管障害カンファレンス, 2017年5月. 山本遥平, 土師正太郎, 宮本亮介, 古川貴大, 松井尚子, 和泉唯信, 梶龍兒 :
たこつぼ型心筋症を合併したMGクリーゼの一例,
第5回東四国神経免疫研究会, 2017年1月. 武内俊明, 松井尚子, 山本雄貴, 酒井和香, 西田善彦, 南里和紀, 和泉唯信, 梶龍兒 :
抗グリアジン抗体+抗GAD抗体陽性の自己免疫性小脳失調症の一例,
第52回亀山正邦記念神経懇話会, 2016年11月. 梶龍兒, 野寺裕之, 高松直子, 松井尚子, 森敦子, 寺澤由佳, 島谷佳光, 大崎裕亮, 丸山恵子, 和泉唯信 :
下腿三頭筋エコー輝度の解離により孤発性封入体筋炎と炎症性筋炎とを鑑別できる,
稀少難治性筋疾患に関する調査研究班「IBM分科会」(平成27年度), 49-50, 2016年2月. 山本伸昭, 和泉唯信, 梶龍兒, 曽我部周, 吉岡正太郎, 多田恵曜, 桑山一行, 里見淳一郎, 永廣信治 :
急性期再灌流療法施行患者の予後予測因子,
第17回徳島脳血管障害カンファレンス, 2015年5月. 松井尚子, 和泉唯信, 鎌田正紀, 川上秀史, 梶龍兒 :
骨Paget病と痙性対麻痺を併発したVCP遺伝子変異によるミオパチーの一例,
稀少難治性筋疾患に関する調査研究班「IBM分科会」(平成26年度), 2015年2月. 山本伸昭, 藤田浩司, 和泉唯信, 梶龍兒, 山口泉, 里見淳一郎, 永廣信治, 山田博胤, 木下肇, 北川哲也 :
心内巨大血栓に伴う急性期脳梗塞の1例,
第16回徳島脳血管障害カンファレンス, 2014年4月. 梶龍兒, 松井尚子, 島谷佳光, 野寺裕之, 和泉唯信 :
IBMの診断における補助検査の有用性,
稀少難治性筋疾患に関する調査研究班(平成25年度), 2014年1月. 植野美彦, 関陽介, 依岡隆児, 和泉唯信, 二川健, 岡久玲子, 石丸直澄, 尾崎和美, 田中秀治, 寺田賢治, 田中保, 古屋 S. 玲, 上岡麻衣子 :
令和3年度徳島大学高等教育研究センターアドミッション部門報告書,
令和3年度徳島大学高等教育研究センターアドミッション部門報告書, 2022年3月. 宮本亮介, 和泉唯信 :
徳島県における脊髄小脳変性症の実態調査，運動失調症の医療水準,
患者QOLの向上に資する研究班2020年度研究報告会, 2021年1月. 和泉唯信 :
筋萎縮性側索硬化症(ALS)患者を対象としたボスチニブ医師主導治験,
令和2年度神経変性疾患領域の基盤的調査研究班会議, 2020年12月. 和泉唯信 :
気管切開下人工呼吸器装着の筋萎縮性側索硬化症(ALS)患者の外科手術,
令和2年度神経変性疾患領域の基盤的調査研究班会議, 2020年12月.

特許: 井上治久, 今村恵子, 西田敬二, Yuishin Izumi and Ryosuke Oki : Agent for Treating HMSN-P, (Dec. 2022), 63/435,550.
作品: 研究者総覧に該当データはありませんでした。
補助金・競争的資金: 新規ミトコンドリア蛋白質の構造異常によるALS病態の解析と評価モデル系の開発 (研究課題/領域番号: 23K24211 )
神経難病のリハビリテーションにおけるプラセボ効果の検討とその治療的活用 (研究課題/領域番号: 24500636 )
SCA8遺伝子におけるCTA/CTGリピート伸長の病的意義についての検討 (研究課題/領域番号: 16590830 )
ジストニアの病態生理と非侵襲的治療に関する研究 (研究課題/領域番号: 15390274 )
超大量メチルコバラミン投与による筋萎縮性側索硬化症の治療法の開発 (研究課題/領域番号: 13557056 )
研究者番号（10335812）による検索

その他: 研究者総覧に該当データはありませんでした。

研究者総覧で最新データを確認する

2024年12月20日更新

専門分野・研究分野: ライフサイエンス (Life sciences) [神経内科学 (Neurology)]
所属学会・所属協会: 日本神経学会
日本神経病理学会
日本早期認知症学会
日本認知症学会
委員歴・役員歴: 日本神経学会 (理事 [2022年6月〜2024年6月])
日本神経病理学会 (理事 [2022年6月〜2024年6月])
日本早期認知症学会 (理事 [2020年9月〜2022年9月])
日本認知症学会 (理事 [2022年11月〜2023年11月])
受賞: 2022年10月, 外部資金獲得表彰 (臨床神経科学)
活動: 徳島県指定難病審査会 (委員 [2020年4月〜2021年3月])
徳島県難病医療連絡協議会 (委員 [2020年4月〜2021年3月])
徳島県指定難病審査会 (委員 [2021年4月〜2022年3月])
徳島県指定難病審査会 (委員 [2022年4月〜2023年3月])
徳島県難病医療連絡協議会 (委員長 [2021年4月〜2022年3月])
徳島県難病医療連絡協議会 (委員長 [2022年4月〜2023年3月])
徳島市医師会もの忘れ検診委員会 (委員 [2021年4月〜2022年3月])
徳島市医師会もの忘れ検診委員会 (委員 [2022年4月〜2023年3月])
徳島市医師会もの忘れ検診委員会 (委員 [2023年4月〜2024年3月])
徳島県指定難病審査会 (委員 [2023年4月〜2024年3月])
徳島県難病医療連絡協議会 (委員長 [2023年4月〜2024年3月])
西日本医科学生体育連盟 (理事 [2023年4月〜2024年3月])
全日本柔道連盟 (医科学委員 [2022年1月〜2023年12月])
徳島市認知症初期集中支援チーム (チーム員医師 [2022年8月〜2023年9月])
徳島市認知症初期集中支援チーム (チーム員医師 [2023年8月〜2024年9月])
西日本医科学生体育連盟 (理事 [2024年4月〜2025年3月])
徳島県難病医療連絡協議会 (委員長 [2024年4月〜2025年3月])
徳島県指定難病審査会 (委員 [2024年4月〜2025年3月])

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2023年9月10日更新

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Ｊグローバル

Jグローバル最終確認日: 2024/12/21 01:16
氏名（漢字）: 和泉唯信
氏名（フリガナ）: イズミユイシン
氏名（英字）: Izumi Yuishin
所属機関: 徳島大学教授

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researchmap最終確認日: 2023/9/10 01:19
氏名（漢字）: 和泉唯信
氏名（フリガナ）: イズミユイシン
氏名（英字）: Izumi Yuishin
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登録日時: 2002/8/19 00:00
更新日時: 2002/8/19 00:00
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所属: 徳島大学
部署: 医学部医学科
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ＫＡＫＥＮで最新データを確認する

2024年12月21日更新

研究者番号: 10335812

所属（現在）: 2024/4/1 : 徳島大学, 大学院医歯薬学研究部(医学域), 教授

所属（過去の研究課題 情報に基づく）*注記: 2022/4/1 – 2024/4/1 : 徳島大学, 大学院医歯薬学研究部(医学域), 教授
2014/4/1 : 徳島大学, 大学院ヘルスバイオサイエンス研究部臨床神経科学分野, 臨床教授
2004/4/1 – 2005/4/1 : 徳島大学, 大学院・ヘルスバイオサイエンス研究部, 講師
2003/4/1 : 徳島大学, 医学部, 講師
2002/4/1 : 徳島大学, 医学部附属病院, 助手
2001/4/1 : 徳島大学, 医学部・附属病院, 助手

審査区分/研究分野

研究代表者

生物系 / 医歯薬学 / 内科系臨床医学 / 神経内科学

研究代表者以外

総合・新領域系 / 総合領域 / 人間医工学 / リハビリテーション科学・福祉工学
医学 / 内科 / 神経内科学
生物系 / 医歯薬学 / 内科系臨床医学 / 神経内科学
小区分51030:病態神経科学関連

キーワード

研究代表者

SCA8 / SCA6 / CTGリピート / 小脳萎縮 / 筋強直性ジストロフィー / 若年発症 / 成人発症 / CTG repeat / cerebellar atrophy

研究代表者以外

パーキンソン病 / リハビリテーション / プラセボ効果 / 筋萎縮性側索硬化症 / メチルコバラミン / ビタミンB12 / SOD1トランスジェニックマウス / 治療 / 動物モデル / fasciculation / SOD1 トランスジェニックマウス / 筋萎縮性訴句作硬化症 / amyotrophic lateral sclerosis / methylcobalamin / vitamin B12 / SOD1-transgenic rat / therapy / animal model / ジストニア / 磁気刺激 / 伴性劣性ジストニア・パーキンソニズム / 持続性ナトリウムチャネル / PSTH法 / 前運動野 / 補足運動野 / silent period / 皮質-皮質間制御 / SPECT / プライミング / dystonia / magnetic stimulation / X-linked dystonia-parkinsonism / persistent Na channel / PSTH / FUS / DHX30 / RNA / 低分子スクリーニング / Fused in sarcoma (FUS) / 変異遺伝子スクリーニング

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2021年12月24日

【医師主導治験】筋萎縮性側索硬化症（ALS）を対象とした新規薬剤の治験の開始について

和泉唯信藤田浩司

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