Spinocerebellar ataxia type 10 in Chinese Han

Kang Wang, Karen N. McFarland, Jilin Liu, Desmond Zeng, Ivette Landrian, Guangbin Xia, Ying Hao, Miao Jin, Connie J. Mulligan, Weihong Gu, Tetsuo Ashizawa

Research output: Contribution to journalArticle

11 Scopus citations

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 languageEnglish (US)
Article numbere26
Pages (from-to)e26
JournalNeurology: Genetics
Volume1
Issue number3
DOIs
StatePublished - Oct 1 2015

Keywords

  • Journal Article

ASJC Scopus subject areas

  • Clinical Neurology
  • Genetics(clinical)

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