Session Details

[O10]Neuromuscular Disorders 2

Thu. Nov 19, 2026 5:00 PM - 6:00 PM JST
Thu. Nov 19, 2026 8:00 AM - 9:00 AM UTC
Room 7 (Grand Hall, Sendai Ryokusaikan Visitor Center)
Chair: Masanori Takahashi (The University of Osaka Graduate School of Medicine), Ichiro Yabe (Department of Neurology, Hokkaido University)

[O10-01]Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS):Clinical and genetic analyses in the 22 patients

Haruo Shimazaki1,2, Yoshihisa Takiyama3,4 (1. Faculty of Health and Medical Care, Saitama Medical University, 2. Department of Neurology, Jichi Medical University, 3. Fuefuki Central Hospital, 4. Department of Neurology, Yamanashi University)

[O10-02]Characterization of Somatic Instability and Repeat Interruptions in Japanese Patients with Myotonic Dystrophy Type 1

Yuzuha Ichimura1, Mika Yoshida1, Fuuka Takahashi1, Konomi Okada1, Haruka Shioi1, Haruna Shimamura1, Monami Toba1, Tomoya Kubota1, Thuyoshi Matsumura2, Kenichi Yamamoto3, Masayuki Nakamori4, Masanori Takahashi1 (1. Clinical Neurophysiology, The University of Osaka Graduate School of Medicine, Suita, Japan, 2. Department of Neurology, NHO Osaka Toneyama Medical Center, Toyonaka, Japan, 3. Laboratory of Children's health and Genetics, Division of Health Sciences, The University of Osaka Graduate School of Medicine, Suita, Japan, 4. Department of Neurology, Yamaguchi University Graduate School of Medicine, Ube, Japan)

[O10-03]A Comparative Review of International Guidelines for Asymptomatic Hereditary ATTR Amyloidosis

Katsuya Nakamura1,2, Tsuneaki Yoshinaga1, Yoshiki Sekijima1 (1. Department of Medicine (Neurology and Rheumatology), Shinshu University School of Medicine, 2. Center for Medical Genetics, Shinshu University Hospital)

[O10-04]Enrichment of LRP12 CGG repeat expansions in adult-onset non-5q spinal muscular atrophy

Hiroya Naruse1, Jun Mitsui1,2, Hiroyuki Ishiura1,3, So Okubo1, Chiharu Yoshida1, Wataru Satake1, Shokichi Takahama4, Takuya Yamamoto4, Shoji Tsuji5, Yusuke Nakamura6, Tatsushi Toda7 (1. Department of Neurology, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan, 2. Department of Precision Medicine Neurology, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan, 3. Department of Neurology, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama, Japan, 4. Center for Intractable Diseases and ImmunoGenomics, National Institutes of Biomedical Innovation, Health and Nutrition, Osaka, Japan, 5. Institute of Medical Genomics, International University of Health and Welfare, Chiba, Japan, 6. National Institutes of Biomedical Innovation, Health and Nutrition, Osaka, Japan, 7. National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, Japan)

[O10-05]Mitochondrial Dysfunction in Digenic TBP/STUB1 Spinocerebellar Ataxia

Kazuki Yamada1,2, Shunsuke Ogata1,3, Satoko Miyatake1,4, Hisashi Uwatoko2, Shinichi Shirai2, Eriko Koshimizu1, Kohei Hamanaka1, Naomi Tsuchida1,5, Yuri Uchiyama1,5, Masamune Sakamoto1, Takeshi Mizuguchi1, Ichiro Yabe2, Naomichi Matsumoto1,4,5 (1. Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan, 2. Department of Neurology, Faculty of Medicine and Graduate School of Medicine, Hokkaido University, Sapporo, Japan, 3. Department of Neurology and Stroke Medicine, Yokohama City University Graduate School of Medicine, Yokohama, Japan, 4. Department of Clinical Genetics, Yokohama City University Hospital, Yokohama, Japan, 5. Department of Rare Disease Genomics, Yokohama City University Hospital, Yokohama, Japan)

[O10-06]Mitochondrial DNA Variant Screening in 646 Japanese Patients with Hereditary Spastic Paraplegia

Akinori Kinoshita1, Taijun Yunoki1, Chika Matsuoka1, Tomohito Kawano1, Yumi Nakada1, Tomoaki Nada1, Ken Ikegami1, Yusuke Fukui1, Ryuta Morihara1, Takashi Matsukawa2, Jun Mitsui3, Hiroyuki Ishiura1 (1. Department of Neurology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University, Okayama, Japan, 2. Department of Neurology, The University of Tokyo, Tokyo, Japan, 3. Department of Precision Medicine Neurology, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan)