[O-08] Cerebellar ataxia and others (Biomarker, gene)

[O-08-2] Clinical characteristics of four patients with ERCC4 mutations manifesting ataxia phenotype

^○Hiroshi Doi¹, Shigeru Koyano², Miyatake Satoko³, Shinji Nakajima⁴, Yuka Nakazawa⁵, Misako Kunii¹, Atsuko Katsumoto¹, Ryoko Fukai¹, Tomoo Ogi⁶, Hideyuki Takeuchi¹, Naomichi Matsumoto³, Fumiaki Tanaka¹ (1.Department of Neurology and Stroke Medicine, Yokohama City University, 2.Department of Neurology, Yokohama Minami Kyousai Hospital, 3.Department of Human Genetics, Yokohama City University, 4.Department of Pharmacology, National Defense Medical College, 5.Department of Genome Repair, Atomic Bomb Disease Institute, Nagasaki University, 6.Department of Genetics, Research Institute of Environmental Medicine, Nagoya University)