The 70th Annual Meeting of the Japan Society of Human Genetics
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Session Details

Oral Session

[O12]Oral Session 12　Neuromuscular Disorders 2

Fri. Dec 19, 2025 9:40 AM - 10:30 AM JST
Fri. Dec 19, 2025 12:40 AM - 1:30 AM UTC
Room 6 (313+314, 3F, PACIFICO Yokohama)
Chairs：Ken Inoue（National Center of Neurology and Psychiatry, Medical Genome Center）／Hiroshi Doi（Department of Neurology and Stroke Medicine, Yokohama City University）
［English Session］

[O12-1]Genetically driven elevation of cholesterol synthesis impairs adenosine-to-inosine RNA editing in motor neurons of ALS

Chris Kato1,2, Satoru Morimoto1,2, Shiho Nakamura1,2, Fumiko Ozawa1,2, Shinichi Takahashi1,3, Hideyuki Okano1,2 (1.Keio University Regenerative Medicine Research Center, Tokyo, Japan, 2.Division of Neurodegenerative Disease Research, Tokyo Metropolitan Institute for Geriatrics and Gerontology, Tokyo, Japan, 3.Department of Neurology and Stroke, Saitama Medical University International Medical Center, Saitama, Japan)

[O12-2]NOP56 is crucial for mammalian generation and commonly associated with SCA36 and C9orf72 repeat expansion ALS pathology

Kosuke Matsuzono1, Yasumitsu Nagao2, Chihiro Sarai2, Yuki Takayanagi3, Eiji Sakashita4, Kazumasa Sekiguchi1, Kazuhiro Saito1, Hitoshi Endo4, Tatsushi Onaka3, Shigeru Fujimoto1 (1.Division of Neurology, Department of Medicine, Jichi Medical University, 2.Center for Experimental Medicine, Jichi Medical University, 3.Department of Physiology, Jichi Medical University, 4.Department of Biochemistry, Jichi Medical University)

[O12-3]Analysis of Repeat Expansion Disease using Pacbio Revio platform: Comparison with Nanopore Sequencer

Satoko Miyatake1,2, Eriko Koshimizu2, Atsushi Fujita2, Yuri Uchiyama2,4, Naomi Tsuchida2,4, Kohei Hamanaka2, Takeshi Mizuguchi2, Naomichi Matsumoto2,3,4 (1.Department of Neurogenetics, Molecular Neuroscience Research Center, Shiga University of Medical Science, Shiga, Japan, 2.Department of Clinical Genetics, Yokohama City University Hospital, Yokohama, Japan, 3.Department of Human Genetics, Yokohama City University Graduate School of Medicine, 4.Department of Rare Disease Genomics, Yokohama City University Hospital)

[O12-4]Early manifestation of developmental delay in extremely preterm twins with Duchenne muscular dystrophy

Kentaro Tamura1, Mitsuhide Nagaoka1, Satomi Inomata1, Yukako Kawasaki1, Rei Fukuda2, Taketoshi Yoshida1 (1.Division of Neonatology, Maternal and Perinatal Center, Toyama University Hospital, Toyama, Japan, 2.Department of Clinical Genetics, Toyama University Hospital, Toyama, Japan)

[O12-5]Clinical and genetic characterization of 8 patients with ARSACS diagnosed by whole genome sequencing

Naoko Sato1, Hidetoshi Date1, Toru Yamakawa1, Yuka Hama1, Yousuke Omae2, Yousuke Kawai2, Katsushi Tokunaga2, Yuji Takahashi1, Hidehiro Mizusawa1,3, J-CAT4 (1.Department of Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Kodaira, Japan, 2.Genome Medical Science Project, National Center for Global Health and Medicine, 3.Institute of Science Tokyo, 4.J-CAT (Japan Consortium of Ataxias))
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