Spinocerebellar ataxia type 10 in Chinese Han.
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ABSTRACT:
SUBMITTER: Wang K
PROVIDER: S-EPMC4809459 | biostudies-literature | 2015 Oct
REPOSITORIES: biostudies-literature
Publications
Spinocerebellar ataxia type 10 in Chinese Han.
Wang Kang K McFarland Karen N KN Liu Jilin J Zeng Desmond D Landrian Ivette I Xia Guangbin G Hao Ying Y Jin Miao M Mulligan Connie J CJ Gu Weihong W Ashizawa Tetsuo T
Neurology. Genetics 20151008 3
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 SCA1 ...[more]
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