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宮本亮介

徳島大学

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2024年12月23日更新

職名: 特任講師
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電子メール: ryom@tokushima-u.ac.jp
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学位: 学士 (徳島大学)
職歴・経歴: 2016/6: 徳島大学助教, 大学院医歯薬学研究部 (-2021.4.)
2021/5: 徳島大学特任講師, 病院

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2024年12月23日更新

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担当経験のある授業科目: 神経・精神・行動コース (学部)
臨床医学入門コース (学部)
臨床検査医学(隣接医学C) (学部)
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2024年12月23日更新

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論文

Shusuke Yagi, Ryosuke Miyamoto, Masayoshi Tasaki, Hiroyuki Morino, Ryuji Otani, Muneyuki Kadota, Takayuki Ise, Hiroki Yamazaki, Kenya Kusunose, Koji Yamaguchi, Hirotsugu Yamada, Takeshi Soeki, Tetsuzo Wakatsuki, Daiju Fukuda, Mitsuharu Ueda and Masataka Sata :
The APOA1 p.Leu202Arg variant potentially causes autosomal recessive cardiac amyloidosis.,
Human Genome Variation, Vol.11, No.1, 2024.

(要約): ApoA-I amyloidosis is an extremely rare form of systemic amyloidosis that commonly involves the heart, kidneys, and liver. ApoA-I amyloidosis is caused by amyloidogenic variants of APOA1 that are inherited in an autosomal dominant manner. Here, we report a 69-year-old man with sporadic cardiac amyloidosis who was born to consanguineous parents and carried a homozygous variant of p.Leu202Arg in APOA1.
(徳島大学機関リポジトリ): ● Metadata: 119580
(出版サイトへのリンク): ● Publication site (DOI): 10.1038/s41439-024-00288-7
(文献検索サイトへのリンク): ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 39152105; ● Summary page in Scopus @ Elsevier: 2-s2.0-85201547622

(徳島大学機関リポジトリ: 119580, DOI: 10.1038/s41439-024-00288-7, PubMed: 39152105, Elsevier: Scopus) 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) 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) 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) 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) 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) 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) P Chavan, S Raman, Arief Waskitho, Junhel Dalanon, Yasutomo Yoshihara, Kazuo Okura, Ryosuke Miyamoto and Yoshizo Matsuka :
Botulinum toxin injection attenuates nonodontogenic toothache: A case report,
Clinical Case Reports, Vol.10, 2022.

(出版サイトへのリンク): ● Publication site (DOI): 10.1002/ccr3.5494
(文献検索サイトへのリンク): ● Search Scopus @ Elsevier (DOI): 10.1002/ccr3.5494

(DOI: 10.1002/ccr3.5494) 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) 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) Ryoma Morigaki, Ryosuke Miyamoto, Taku Matsuda, Kazuhisa Miyake, Nobuaki Yamamoto and Yasushi Takagi :
Dystonia and cerebellum: From bench to bedside,
Life, Vol.11, No.8, 776, 2021.

(徳島大学機関リポジトリ): ● Metadata: 116560
(出版サイトへのリンク): ● Publication site (DOI): 10.3390/life11080776
(文献検索サイトへのリンク): ● Search Scopus @ Elsevier (DOI): 10.3390/life11080776

(徳島大学機関リポジトリ: 116560, DOI: 10.3390/life11080776) 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) 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) 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) 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) 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) 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) 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) Ryoma Morigaki, Ryosuke Miyamoto, Hideo Mure, Koji Fujita, Taku Matsuda, Yoko Yamamoto, Masahito Nakataki, Tetsuya Okahisa, Yuki Matsumoto, Kazuhisa Miyake, Nobuaki Yamamoto, Ryuji Kaji, Yasushi Takagi and Satoshi Goto :
Can Pallidal Deep Brain Stimulation Rescue Borderline Dystonia? Possible Coexistence of Functional (Psychogenic) and Organic Components.,
Brain Sciences, Vol.10, No.9, 636, 2020.

(要約): The diagnosis and treatment of functional movement disorders are challenging for clinicians who manage patients with movement disorders. The borderline between functional and organic dystonia is often ambiguous. Patients with functional dystonia are poor responders to pallidal deep brain stimulation (DBS) and are not good candidates for DBS surgery. Thus, if patients with medically refractory dystonia have functional features, they are usually left untreated with DBS surgery. In order to investigate the outcome of functional dystonia in response to pallidal DBS surgery, we retrospectively included five patients with this condition. Their dystonia was diagnosed as organic by dystonia specialists and also as functional according to the Fahn and Williams criteria or the Gupta and Lang Proposed Revisions. Microelectrode recordings in the globus pallidus internus of all patients showed a cell-firing pattern of bursting with interburst intervals, which is considered typical of organic dystonia. Although their clinical course after DBS surgery was incongruent to organic dystonia, the outcome was good. Our results question the possibility to clearly differentiate functional dystonia from organic dystonia. We hypothesized that functional dystonia can coexist with organic dystonia, and that medically intractable dystonia with combined functional and organic features can be successfully treated by DBS surgery.
(徳島大学機関リポジトリ): ● Metadata: 116502
(出版サイトへのリンク): ● Publication site (DOI): 10.3390/brainsci10090636
(文献検索サイトへのリンク): ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 32942724; ● Search Scopus @ Elsevier (PMID): 32942724; ● Search Scopus @ Elsevier (DOI): 10.3390/brainsci10090636

(徳島大学機関リポジトリ: 116502, DOI: 10.3390/brainsci10090636, PubMed: 32942724) 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) 福家麻美, 荻野広和, 坪井未希, 近藤真代, 香川耕造, 埴淵昌毅, 山﨑博輝, 宮本亮介, 豊田優子, 西岡安彦 :
エタンブトールによる脱髄性末梢神経障害により急速進行性の歩行障害を呈した結核性胸膜炎の1例,
日本結核・非結核性抗酸菌症学会, Vol.95, No.2, 73-77, 2020年. T Fukumoto and Ryosuke Miyamoto :
Hung-up Knee Jerk in Huntington's Disease,
The New England Journal of Medicine, Vol.382, No.7, e10, 2020.

(キーワード): Female / Humans / Huntington Disease / Knee / Middle Aged / Reflex, Abnormal
(出版サイトへのリンク): ● Publication site (DOI): 10.1056/NEJMicm1910309
(文献検索サイトへのリンク): ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 32053302; ● Search Scopus @ Elsevier (PMID): 32053302; ● Search Scopus @ Elsevier (DOI): 10.1056/NEJMicm1910309

(DOI: 10.1056/NEJMicm1910309, PubMed: 32053302) 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. 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) Toshitaka Kawarai, Hiroki Yamazaki, Ryosuke Miyamoto, Naoko Takamatsu, Atsuko Mori, Yusuke Osaki, Antonio Orlacchio, Hiroyuki Nodera, Akihiro Hashiguchi, Yujiro Higuchi, Akiko Yoshimura, Hiroshi Takashima and Ryuji Kaji :
PMP22-related disease: A novel splice site acceptor variant and intrafamilial phenotype variability.,
Neuromuscular Disorders, Vol.26, No.6, 422-426, 2019.

(要約): PMP22 is the most frequent mutated gene in Charcot-Marie-Tooth disease (CMT) type 1A. Another phenotype, hereditary neuropathy with pressure palsies (HNPP), could be caused by PMP22 mutations. PMP22 encodes a peripheral myelin protein with molecular weight 22-kDa. Various pathomechanisms have been postulated in PMP22-related disease, including dysfunction due to missense mutations, and alteration of a gene dose due to duplication/deletion mutations. We identified a novel PMP22 splice site acceptor variant, c.179-1G>A, in a patient with adult-onset chronic generalized polyneuropathy and two asymptomatic family members. Pathophysiological features of the members mainly overlapped with those reported in HNPP, but broad intrafamilial clinical variations were observed. PMP22 transcripts lacking of exon 4 were produced by the variant, presumably leading to in-frame deletion of 47 amino acids. The variant was also shown to exert effect on dosage of PMP22 mRNA. The complex molecular pathology would lead to the unique clinical and pathophysiological conditions.
(キーワード): Adult / 家族 (family) / 女性 (female) / Gene Dosage / Hereditary Sensory and Motor Neuropathy / Humans / 男性 (male) / Middle Aged / Mutation / Myelin Proteins / Pedigree / Phenotype / Polyneuropathies / RNA Splice Sites
(出版サイトへのリンク): ● Publication site (DOI): 10.1016/j.nmd.2019.03.010
(文献検索サイトへのリンク): ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 31122831; ● Summary page in Scopus @ Elsevier: 2-s2.0-85065707113

(DOI: 10.1016/j.nmd.2019.03.010, PubMed: 31122831, 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) 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) 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) 牟礼英生, 森垣龍馬, 宮本亮介, 中瀧理仁, 岡久哲也, 加藤真介, 梶龍兒, 髙木康志, 永廣信治, 後藤惠 :
ジストニアDBS治療における多職種連携,
機能的脳神経外科, Vol.57, 35-39, 2018年.

(キーワード): ジストニア / 脳深部刺激療法 / 多職種連携 / Dystonia / DBS / Multidisciplinary / Collaboration
(文献検索サイトへのリンク): ● CiNii @ 国立情報学研究所 (CRID): 1520572358412476800

(CiNii: 1520572358412476800) Koji Fujita, Yusuke Osaki, Ryosuke Miyamoto, Shimatani Yoshimitsu, Takashi Abe and Shimatani Yoshimitsu :
Neurologic attack and dynamic perfusion abnormality in neuronal intranuclear inclusion disease,
Neurology. Clinical Practice, Vol.7, No.6, e39-e42, 2017.

(出版サイトへのリンク): ● Publication site (DOI): 10.1212/CPJ.0000000000000389
(文献検索サイトへのリンク): ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 29431160; ● Search Scopus @ Elsevier (PMID): 29431160; ● Search Scopus @ Elsevier (DOI): 10.1212/CPJ.0000000000000389

(DOI: 10.1212/CPJ.0000000000000389, PubMed: 29431160) Kozue Kuwabara, Toshitaka Kawarai, Yasushi Ishida, Ryosuke Miyamoto, Ryosuke Oki, Antonio Orlacchio, Yoshiko Nomura, Mitsumasa Fukuda, Eiichi Ishii, Haruo Shintaku and Ryuji Kaji :
A novel compound heterozygous TH mutation in a Japanese case of dopa-responsive dystonia with mild clinical course.,
Parkinsonism & Related Disorders, Vol.46, 87-89, 2017.

(出版サイトへのリンク): ● Publication site (DOI): 10.1016/j.parkreldis.2017.10.019
(文献検索サイトへのリンク): ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 29126763; ● Summary page in Scopus @ Elsevier: 2-s2.0-85034443966

(DOI: 10.1016/j.parkreldis.2017.10.019, PubMed: 29126763, Elsevier: Scopus) Masaki Kamada, Toshitaka Kawarai, Ryosuke Miyamoto, Rie Kawakita, Yuki Tojima, Celeste Montecchiani, Laura D'Onofrio, Carlo Caltagirone, Antonio Orlacchio and Ryuji Kaji :
Spastic paraplegia type 31: A novel REEP1 splice site donor variant and expansion of the phenotype variability.,
Parkinsonism & Related Disorders, Vol.46, 79-83, 2017.

(要約): Mutations in REEP1 have been identified in three types of neurological disorders, autosomal dominant form of Hereditary Spastic Paraplegia type 31 (SPG31), autosomal dominant distal hereditary motor neuronopathy type VB (HMN5B), and autosomal recessive form of congenital axonal neuropathy and diaphragmatic palsy. Previous studies demonstrated different molecular pathogenesis in SPG31, including loss-of-function, gain-of-function and haploinsufficiency. A four-generation family from Japan, including 12 members, was investigated clinically and genetically. Seven affected members displayed pure spastic paraplegia. Impression of genetic anticipation was observed in the family, including tendency of earlier age-at-onset and increasing severity in subsequent generations. Genetic analysis revealed a heterozygous intronic variant, c.303+2T > A, in REEP1, which segregated with disease, and was also identified in one unaffected member. The variant causes exon 4 skipping leading to frame shift and a truncated transcript identified by complementary DNA sequencing of reverse transcription polymerase chain reaction products. Measurement of REEP1 transcripts in lymphocytes demonstrated a reduction through nonsense mediated mRNA decay (NMD). Our study demonstrated further evidence of allelic heterogeneity in SPG31, mutant REEP1 mRNA dosage effects through NMD and intra-familial phenotype variability.
(出版サイトへのリンク): ● Publication site (DOI): 10.1016/j.parkreldis.2017.10.012
(文献検索サイトへのリンク): ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 29107646; ● Summary page in Scopus @ Elsevier: 2-s2.0-85032279469

(DOI: 10.1016/j.parkreldis.2017.10.012, PubMed: 29107646, Elsevier: Scopus) 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) 牟礼英生, 森垣龍馬, 大北真哉, 宮本亮介, 梶龍兒, 永廣信治, 後藤惠 :
ジストニアに対する脳深部刺激療法:淡蒼球刺激と視床刺激の併用,
機能的脳神経外科, Vol.55, 80-86, 2016年.

(キーワード): ジストニア / 脳深部刺激療法 / 淡蒼球内接 / 視床吻腹側核 / Dystonia / DBS / GPi / Thalamic Vo nucleus
(文献検索サイトへのリンク): ● CiNii @ 国立情報学研究所 (CRID): 1520853833839457024

(CiNii: 1520853833839457024) Toshitaka Kawarai, Ryosuke Miyamoto, Yoshimitsu Shimatani, Antonio Orlacchio and Ryuji Kaji :
Choreoathetosis, Dystonia, and Myoclonus in 3 Siblings With Autosomal Recessive Spinocerebellar Ataxia Type 16.,
JAMA Neurology, Vol.73, No.7, 888-890, 2016.

(出版サイトへのリンク): ● Publication site (DOI): 10.1001/jamaneurol.2016.0647
(文献検索サイトへのリンク): ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 27182963; ● Search Scopus @ Elsevier (PMID): 27182963; ● Search Scopus @ Elsevier (DOI): 10.1001/jamaneurol.2016.0647

(DOI: 10.1001/jamaneurol.2016.0647, PubMed: 27182963)

MISC

研究者総覧に該当データはありませんでした。

総説・解説

Ryoma Morigaki and Ryosuke Miyamoto :
Dystonia: Still a Mysterious Syndrome.,
Life, Vol.12, No.7, Jul. 2022.

(要約): The diagnosis of dystonia is sometimes complicated due to its many clinical manifestations, causes, and the lack of specific diagnostic examinations or simple algorithms [...].
(徳島大学機関リポジトリ): ● Metadata: 117342
(出版サイトへのリンク): ● Publication site (DOI): 10.3390/life12070989
(文献検索サイトへのリンク): ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 35888079; ● Search Scopus @ Elsevier (PMID): 35888079; ● Search Scopus @ Elsevier (DOI): 10.3390/life12070989

(徳島大学機関リポジトリ: 117342, DOI: 10.3390/life12070989, PubMed: 35888079) 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.

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. 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. Hideo Mure, Ryoma Morigaki, Ryosuke Miyamoto, Kazuhisa Miyake, Taku Matsuda, Hiroshi Koyama and Yasushi Takagi :
Long-term follow-up of 12 patients treated with bilateral pallidal stimulation for tardive dystonia,
13th Scientific meeting of Asian Australasian Society for Streotactic and Functional Neurosurgery, Osaka, Apr. 2023. Kyoto Hoshino, Toshitaka Kawarai, Masaharu Hayashi, Kazue Kimura, Yuri Nagao, Michio Fukumizu, Ryosuke Miyamoto and Ryuji Kaji :
ENCEPHALOPATHY IN A PATIENT WITH RAPID-ONSET DYSTONIA-PARKINSONISM CARRYING A NOVEL ATP1A3 MUTATION,
The MDS 22th International Congress of Parkinsons Disease and Movement Disorders Society, Oct. 2018.

(キーワード): ATP1A3 / dystonia / parkinsonism / encephalopathy

Toshitaka Kawarai, Ryosuke Miyamoto, Orlacchio Antonio and Ryuji Kaji :
OHORT PROFILE OF THE JAPAN DYSTONIA CONSORTIUM: GENETIC DIAGNOSIS AND CHARACTERISTICS OF MOVEMENT DISORDERS IN JAPAN,
The MDS 22th International Congress of Parkinsons Disease and Movement Disorders Society, Oct. 2018.

(キーワード): Dystonia / genetic study / movement disorders

Hideo Mure, Ryoma Morigaki, Shinya Ohkita, Ryosuke Miyamoto, Shinji Nagahiro and Satoshi Goto :
Deep Brain Stimulation for Dystonia - Pallidal stimulation and thalamic stimulation,
World Society for Stereotactic and Functional Neurosurgery, Berlin, Jun. 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

Masaki Kamada, Toshitaka Kawarai, Ryosuke Miyamoto, Tojima Yuki, Orlacchio Antonio and Ryuji Kaji :
Hereditary spastic paraplegia type 31: a novel splice site donor mutation and intra-familial phenotypic variability,
The MDS 21th International Congress of Parkinsons Disease and Movement Disorders, Jun. 2017.

(キーワード): hereditary spastic paraplegia / phenotypic variability

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

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. Takashi Abe, Toshitaka Kawarai, 小濵祐樹, 苛原早保, 梶誠司 and Ryosuke Miyamoto :
Retrospective review of MRS findings in HDLS and in elderly asymptomatic carriers of a causative gene, CSF-1R: a single institution study,
Apr. 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. 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. 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. 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. 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. 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. 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. 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. 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. 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. 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, 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, 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. 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. 森垣龍馬, 藤川丈自, 松田拓, 三宅一央, 牟礼英生, 小田輝王, 宮本亮介, 藤田浩司, 山本伸昭, 和泉唯心, 髙木康志 :
特発性ジストニア患者の頭蓋骨の歪み,
日本定位・機能神経外科学会機関紙, 2022年1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. 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. 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. 森垣龍馬, 牟礼英生, 松田拓, 三宅一央, 宮本亮介, 藤田浩司, 中瀧理仁, 梶龍兒, 髙木康志, 後藤惠 :
機能ー器質ボーダーラインジストニアに対する脳深部刺激療法,
第60回日本定位・機能神経外科学会, 2021年1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. 三宅一央, 松田拓, 森垣龍馬, 牟礼英生, 髙木康志, 宮本亮介 :
ジストニックストームを生じたGNAO1遺伝子変異に対し淡蒼球脳深部刺激療法を行った1例,
第60回日本定位・機能神経外科学会, 2021年1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

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. 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. 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. 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. 牟礼英生, 藤田浩司, 森垣龍馬, 宮本亮介, 松田拓, 後藤惠, 髙木康志, 後藤惠 :
FDG PETを用いたジストニア患者の脳代謝ネットワークパターンの描出,
機能的脳神経外科, 132, 2020年1月. 森垣龍馬, 牟礼英生, 松田拓, 宮本亮介, 山本陽子, 豊田直人, 髙木康志, 後藤惠 :
GPi-DBSを施行したDYT-GNAL(DYT25)の一例,
機能的脳神経外科, 134, 2020年1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, 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. 森垣龍馬, 牟礼英生, 宮本亮介, 松田拓, 山本陽子, 髙木康志, 後藤惠 :
機能性ジストニアは器質性ジストニアスペクトラム障害か?,
Neurologia Medico-Chirurgica, 349, 2019年10月. 牟礼英生, 藤田浩司, 森垣龍馬, 宮本亮介, 後藤惠, 髙木康志 :
FDG PETを用いたジストニア患者の脳代謝ネットワークパターンの描出,
日本脳神経外科学会第78回学術集会, 2019年10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. 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. 牟礼英生, 宮本亮介, 大北真哉, 梶龍兒, 後藤惠, 永廣信治, 髙木康志 :
小児期ジストニアに対する脳深部刺激療法の適応と予後について,
日本脳神経外科学会第77回学術総会, 2018年10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. Kyoko Hoshino, 瓦井俊孝, Masaharu Hayashi, Kazue Kimura, Yuri Nagao, Michio Fukumizu, 宮本亮介, 梶龍兒 :
Sudden onset of dystonia of mouth and arm with EEG abnormality; 17-years-old male,
第12回パーキンソン病・運動障害疾患コングレス, 2018年7月. 瓦井俊孝, 宮本亮介, 梶龍兒 :
Lesser motor disability from adolescence to adulthood: a nine-year follow-up of a patient with dyskinesia,
第12回パーキンソン病・運動障害疾患コングレス, 2018年7月. 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. 宮本亮介 :
ジストニア・不随意運動のemergency,
第59回日本神経学会学術大会, 2018年5月.

(キーワード): ジストニア / 不随意運動

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. 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. 牟礼英生, 森垣龍馬, 宮本亮介, 中瀧理仁, 髙木康志, 梶龍兒, 永廣信治, 後藤惠 :
ジストニアDBS治療における多職種連携．,
第57回日本定位・機能神経外科学会, 2018年1月. 牟礼英生, 森垣龍馬, 宮本亮介, 中瀧理仁, 岡久哲也, 髙木康志, 梶龍兒, 永廣信治, 後藤惠 :
ジストニアDBS治療における多職種連携,
第57回日本定位・機能神経外科学会, 2018年1月. 牟礼英生, 森垣龍馬, 宮本亮介, 中瀧理仁, 里見淳一郎, 梶龍兒, 後藤惠, 永廣信治 :
ジストニアDBS治療におけるチーム医療の重要性 -徳島大学での取り組み-,
日本脳神経外科学会第76回学術総会, 2017年10月. Toshitaka Kawarai, Ryosuke Miyamoto, Kuroda Yukiko, Omoto Masatoshi and Ueyama Morio :
A Homozygous loss-of-function mutation in DNAJA3 causes HMSN type V,
The 57th Annual Meeting of the Japanese Society of Neurology, May 2016.

(キーワード): HMSN-V

宮﨑由道, 宮本亮介, 瓦井俊孝, 梶龍兒 :
遺伝性ジストニア,
第57回日本神経学会学術大会, 2016年5月.

(キーワード): 遺伝性ジストニア

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. 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. 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. 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. 宮﨑由道, 宮本亮介, 小泉英貴, 瓦井俊孝, 梶龍兒 :

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.

研究会・報告書: 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. 森垣龍馬, 牟礼英生, 大北真哉, 小山広士, 宮本亮介, 梶龍兒, 後藤惠 :
心因性ジストニアは器質性ジストニアと同じスペクトラムの障害か?,
第2回中四国機能神経外科談話会, 2017年4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. 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.

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補助金・競争的資金: ジストニア新規遺伝子機能の解明 (研究課題/領域番号: 23K06929 )
ジストニアの治療ターゲット同定 (研究課題/領域番号: 20K07904 )
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Jグローバル最終確認日: 2024/12/21 01:28
氏名（漢字）: 宮本亮介
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氏名（英字）: Miyamoto Ryosuke
所属機関: 徳島大学病院特任講師

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氏名（漢字）: 宮本亮介
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氏名（英字）: Miyamoto Ryosuke
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登録日時: 2019/3/25 11:30
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研究者番号: 90571050

所属（現在）: 2024/4/1 : 徳島大学, 病院, 特任講師

所属（過去の研究課題 情報に基づく）*注記: 2021/4/1 – 2023/4/1 : 徳島大学, 病院, 特任講師
2020/4/1 : 徳島大学, 大学院医歯薬学研究部(医学域), 助教

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小区分52020:神経内科学関連

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dystonia / dopamine D1 receptor / ジストニア / striosome / D1レセプター / genetics / mouse model

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人工知能技術に基づく個々の病態に最適化された治療的介入技法（AI-Based Behavior Modification: AiBM）の創出

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