Session Details

[O15]Neuromuscular Disorders 3 (English Session)

Fri. Nov 20, 2026 10:40 AM - 11:40 AM JST
Fri. Nov 20, 2026 1:40 AM - 2:40 AM UTC
Room 6 (Meeting Room 3, Exhibition Building, Sendai International Center)
Chair: Saigoh Kazumasa (Kindai University), Yuji Takahashi (National Center of Neurology and Psychiatry)
[English Session]

[O15-01]S-Nitrosylation at Cys406 Drives Aberrant Androgen Receptor Condensate Formation and Transcriptional Dysfunction in SBMA

Yasumasa Hashimoto1,2, Marco Fritzsche3, Richard Premont4,5, Jonathan S. Stamler4,5, Matthew JA Wood2, Carlo Rinaldi2 (1. Department of Neurology, Kansai Medical University, 2. Institute of Developmental & Regenerative Medicine (IDRM), University of Oxford, 3. Kennedy Institute for Rheumatology, University of Oxford, UK, 4. Department of Medicine, Institute for Transformative Molecular Medicine, Case Western Reserve University School of Medicine, Cleveland, Ohio, USA, 5. Harrington Discovery Institute, University Hospitals Cleveland Medical Center, Cleveland, Ohio, USA)

[O15-02]AGG Repeat Expansion and Aggregation of BIN1 in Multiple System Atrophy

Kodai Kume1, Takashi Kurashige1,2, Takeshi Itabashi3, Akio Akagi4, Masataka Nakamura5, Mai Kikumoto1, Atsushi Tamada6, Masaki Kamada7, Takashi Ayaki8, Yuishin Izumi9, Ichiro Yabe10, Keiko Muguruma6, Tatsuo Miyamoto3, Yasushi Iwasaki4, Hideshi Kawakami1 (1. Department of Molecular Epidemiology, Research Institute for Radiation Biology and Medicine, Hiroshima University, Hiroshima, Japan, 2. Department of Neurology, NHO Kure Medical Center and Chugoku Cancer Center, Hiroshima, Japan, 3. Department of Molecular and Cellular Physiology, Graduate School of Medicine Yamaguchi University, Japan, 4. Department of Neuropathology, Institute for Medical Science of Aging, Aichi Medical University, Japan, 5. Department of Neurology, Kansai Medical University, Japan, 6. Department of iPS Cell Applied Medicine, Graduate School of Medicine, Kansai Medical University, 7. Department of Gastroenterology and Neurology, Kagawa University Faculty of Medicine, Japan, 8. Department of Neurology, Graduate School of Medicine, Kyoto University, Japan, 9. Department of Neurology, Tokushima University Graduate School of Biomedical Sciences, Japan, 10. Department of Neurology, Faculty of Medicine and Graduate School of Medicine, Hokkaido University, Japan)

[O15-03]Whole-genome sequencing reveals genetic risk factors associated with Amyloid-β accumulation rate

Akiko Yamakawa1, Akinori Nakamura2, Tetsuaki Kimura1, Yuya Asanomi1, Takumi Nishiki1, Takashi Kato2, Shumpei Niida3, Kouichi Ozaki1,4,5,6, Daichi Shigemizu1,5 (1. Medical Genome Center, Research Institute, National Center for Geriatrics and Gerontology, Obu, Japan, 2. Center for Development of Advanced Medicine for Dementia, Research Institute, National Center for Geriatrics and Gerontology, Obu, Japan, 3. Research Institute, National Center for Geriatrics and Gerontology, Obu, Japan, 4. RIKEN Center for Integrative Medical Sciences, Yokohama, Japan, 5. Department of Cardiovascular Medicine, Hiroshima University Graduate School of Biomedical and Health Sciences, Hiroshima, Japan, 6. Department of Aging Research, Nagoya University Graduate School of Medicine, Nagoya, Japan)

[O15-04]A Study of Epilepsy Cases with GABAA Receptor Mutations: Mutations and Clinical Characteristics

Takahashi Yukitoshi1,8, Masataka Fukuoka1, Kuniko Ida1, Taikan Ooboshi1, Hiroo Oomatsu1, Katsumi Imai1, Rumiko Takayama1, Daisuke Usui1, Akihiro Iguchi1, Mitsuhiro Miyashita1, Shinichi Hirose2, Mitsuhiro Kato3, Toshiyuki Yamamoto4, Tomohiro Saitsu5, Naoya Saijou6, Jun Takayama7, Atsuo Kikuchi6,7, Shigeo Kure6,7 (1. National epilepsy center, NHO, Shizuoka institute of epilepsy and neurological disorders, Shizuoka, Japan, 2. General Medical Research Center, School of Medicine, Fukuoka University, 3. Department of Pediatrics, Showa Medical University School of Medicine, Epilepsy Medical Center, Showa Medical University Hospital, 4. Institute of Medical Genetics, Tokyo Womens Medical University, 5. Department of Biochemistry, Hamamatsu University School of Medicine, 6. Department of Pediatrics, Tohoku University School of Medicine, 7. Department of Rare Disease Genomics, Tohoku University Graduate School of Medicine, 8. Department of Pediatrics, Gifu Municipal hospital, Gifu, Japan)

[O15-05]Population-specific genetic architecture underlies prevalence of NOTCH2NLC CGG repeat expansion in East Asians

So Okubo1, Hiroya Naruse1, Shokichi Takahama2, Takuya Yamamoto2, Chiharu Yoshida1, Takashi Matsukawa1, Jun Mitsui1,3, Wataru Satake1, Toyomasa Katagiri4, Hiroyuki Ishiura1,5, Shoji Tsuji1,6, Yusuke Nakamura4, Tatsushi Toda7 (1. Department of Neurology, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan, 2. Center for Intractable Diseases and ImmunoGenomics, National Institutes of Biomedical Innovation, Health and Nutrition, Osaka, Japan, 3. Department of Precision Medicine Neurology, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan, 4. National Institutes of Biomedical Innovation, Health and Nutrition, Osaka, Japan, 5. Department of Neurology, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama, Japan, 6. Institute of Medical Genomics, International University of Health and Welfare, Chiba, Japan, 7. National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, Japan)

[O15-06]Genetic stratification of Parkinson's disease by NOTCH2NLC and LRP12 repeat expansions.

Hiroki Komatsu1, Hiroko Nakano2, Akihiko Mitsutake1, Kenta Orimo3, Takashi Matsukawa1, Jun Mitsui3, Hiroyuki Ishiura4, Tatsushi Toda5, Wataru Satake1 (1. Department of Neurology, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan, 2. Division of Neurology/Molecular Brain Science, Kobe University Graduate School of Medicine, Japan, 3. Department of Precision Medicine Neurology, Graduate School of Medicine, The University of Tokyo, Japan, 4. Department of Neurology, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, 5. National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, Japan)