Abstract
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.
Original language | English (US) |
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Article number | e26 |
Pages (from-to) | e26 |
Journal | Neurology: Genetics |
Volume | 1 |
Issue number | 3 |
DOIs | |
State | Published - Oct 1 2015 |
Keywords
- Journal Article
ASJC Scopus subject areas
- Clinical Neurology
- Genetics(clinical)