[P1-07] Poster Session 1-07　Clinical Genetics 1

[P1-07-1] A recurrent R83W mutation in RAB3A causes autosomal-dominant cerebellar ataxia

Ryosuke Miyamoto¹, Ayuko Sakane^2,3, Hiroyuki Morino⁴, Kodai Kume⁵, Tomoyasu Matsubara^1,6, Tatsuya Fukumoto¹, Yusuke Osaki¹, Konoka Tachibana¹, Yoshihiko Nishida⁷, Yuji Takahashi⁸, Kenji Mizuguchi⁹, Shigeo Murayama^6,10, Yuko Saito⁶, Hideshi Kawakami⁵, Takuya Sasaki², Yuishin Izumi¹ (1.Department of Neurology, Tokushima University Graduate School of Biomedical Sciences, 2.Department of Biochemistry, Tokushima University Graduate School of Biomedical Sciences, 3.Department of Interdisciplinary Researches for Medicine and Photonics, Institute of Post-LED Photonics, 4.Department of Medical Genetics, Tokushima University Graduate School of Biomedical Sciences, 5.Department of Molecular Epidemiology, Research Institute for Radiation Biology and Medicine, Hiroshima University, 6.Department of Neuropathology (Brain Bank for Aging Research), Tokyo Metropolitan Geriatric Hospital and Institute of Gerontology, 7.Department of Neurology, Itsuki Hospital, 8.Department of Neurology, National Center Hospital, National Center of Neurology and Psychiatry, 9.Institute for Protein Research, The University of Osaka, 10.Brain Bank for Neurodevelopmental, Neurological and Psychiatric Disorders, United Graduate School of Child Development, Osaka University)

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