[2Pm] Neurodegenerative Disorders

[2Pm-108] A TTBK2 variant in a spinocerebellar ataxia patient impairs ciliary function

○Yui Tada¹, Kodai Kume¹, Kosuke Hosoba², Tatsuo Miyamoto³, Yuishin Izumi⁴, Hideshi Kawakami¹ (1. Research Institute for Radiation Biology and Medicine, Hiroshima University, 2. raduate School of Integrated Sciences for Life, Hiroshima University, 3. Graduate School of Medicine, Yamaguchi University, 4. Graduate School of Biomedical Sciences, Tokushima University)

Keywords:Spinocerebellar ataxia, TTBK2, cilia