Session Details
[O8]Neuromuscular Disorders 1
Thu. Nov 19, 2026 4:00 PM - 5:00 PM JST
Thu. Nov 19, 2026 7:00 AM - 8:00 AM UTC
Thu. Nov 19, 2026 7:00 AM - 8:00 AM UTC
Room 7 (Grand Hall, Sendai Ryokusaikan Visitor Center)
Chair: Reiko Arakawa (National Center for Global Health and Medicine), Hirofumi Maruyama (Hiroshima University)
[O8-01]Genome-wide association study of age at onset of amyotrophic lateral sclerosis reveals a novel European-specific locus.
Yumi Matsuda1, Ryoichi Nakamura2, Genki Tohnai3, Naoki Atsuta2, Yuki Ohashi1, Masahiro Nakatochi1, Gen Sobue3,4 (1. Public Health Informatics Unit, Department of Integrated Health Sciences, Nagoya University Graduate School of Medicine, Nagoya, Japan, 2. Department of Neurology, Aichi Medical University School of Medicine, Nagakute, Japan, 3. Division of ALS Research, Aichi Medical University School of Medicine, Nagakute, Japan, 4. Aichi Medical University, Nagakute, Japan)
[O8-02]Genome Mapping and HiFi Sequencing Identified a Novel Complex Structural Variant in Hereditary Neuralgic Amyotrophy
Kumiko Yanagi1, Mariko Takeuchi1, Yumi Enomoto1, Sayaka Ohno1, Arisa Igarashi1, Masahiko Yamamori1, Kimihiko Kaneko2, Rumiko Izumi2, Gakusuke Umezawa2, Masashi Aoki2, Tetsuya Niihori3, Yoko Aoki3, Yoichi Matsubara4, Tadashi Kaname1 (1. Department of Genome Medicine, National Center for Child Health and Development, Tokyo, Japan, 2. Department of Neurology, Tohoku University Graduate School of Medicine, Miyagi, Japan, 3. Department of Medical Genetics, Tohoku University School of Medicine, Miyagi, Japan, 4. National Center for Child Health and Development, Tokyo, Japan)
[O8-03]TPK1 Deficiency Successfully Managed by Empirical Vitamin B1 Supplementation Before Genetic Diagnosis
Dai Matsuse1, Yoshiyasu Kono2, Yukiharu Une2,3, Masamune Sakamoto4, Naomichi Matsumoto4, Noriko Isobe1 (1. Department of Neurology, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan, 2. Kitakyushu Children's Rehabilitation Center, Kitakyushu, Japan, 3. Une Clinic, Onomichi, Japan, 4. Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan)
[O8-04]A Patient of Familial amyloidosis of the Finnish type with GSN Variant presenting with aortic valve regurgitation.
Naoko Sato1, Hiroya Naruse2, Yuji Takahashi1 (1. Department of Neurology, National Center Hospital, National Center of Neurology and Psychiatry, 2. Department of Neurology, Graduate School of Medicine, The University of Tokyo)
[O8-05]Dopaminergic dysfunction in proximal 18q12.1-q12.3 deletion presenting with adult-onset tremor
Haruka Urabe1, Tetsuo Ozawa2, Takashi Nakajima1,2, Kentaro Ohta1,2, Aki Sato1 (1. Department of Neurology, NHO Niigata National Hospital, Niigata, Japan, 2. Department of Clinical Genetics, NHO Niigata National Hospital)
[O8-06]Childhood-onset white matter disease and brain malformations caused by heterozygous end-truncating LAMB1 variants
Ryo Sugiyama1, Satoko Miyatake1,2, Kohei Hamanaka1, Eriko Koshimizu1, Kunihiro Yoshida3, Kouichi Ohta4, Kazuo Kodama5, Taku Omata6, Naomi Tsuchida1,7, Yuri Uchiyama1,7, Masamune Sakamoto1, Takeshi Mizuguchi1, Hirotomo Saitsu8, Naomichi Matsumoto1,2,7,9 (1. Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan, 2. Department of Clinical Genetics, Yokohama City University Hospital, Yokohama, Japan, 3. Department of Neurology, JA Nagano Kouseiren, Kakeyu-Misayama Rehabilitation Center Kakeyu Hospital, Ueda, Japan, 4. Department of Neurology, KKR Tachikawa Hospital, Tachikawa, Japan, 5. Home Care Clinic Aozora Makuhari, Medical Incorporated Foundation Harutaka Kai, Chiba, Japan, 6. Department of Pediatrics, Tokyo Women's Medical University Yachiyo Medical Center, Yachiyo, Japan, 7. Department of Rare Disease Genomics, Yokohama City University Hospital, Yokohama, Japan, 8. Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Japan, 9. Medical Genome Center, National Center of Neurology and Psychiatry, Tokyo, Japan)