Spinocerebellar ataxia type 10 in Chinese Han

作者：Kang Wang, Karen N. McFarland, Jilin Liu, Desmond Zeng, Ivette Landrian, Guangbin Xia, Ying Hao, Miao Jin, Connie J. Mulligan, Weihong Gu, Tetsuo Ashizawa · 发表于：Neurology Genetics · 年份：2015 · DOI：10.1212/nxg.0000000000000026 · 被引用次数：25 · 研究领域：Genetic Neurodegenerative Diseases、Mitochondrial Function and Pathology、DNA Repair Mechanisms

Spinocerebellar ataxia type 10 (SCA10; OMIM #603516) is an autosomal dominant cerebellar ataxia with variably associated extracerebellar signs.(1,2) SCA10 is caused by an expanded noncoding pentanucleotide repeat in ATXN10, which normally ranges from 9 to 32 repeats(3,4); pathogenic alleles have as many as 4,500 repeats.(4) To date, SCA10 has been found exclusively on American continents. In this report, we describe a Chinese Han family with autosomal dominant cerebellar ataxia caused by an SCA10 expansion.