Spinocerebellar ataxia type 10 in Chinese Han

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...

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Bibliographic Details
Published in:	Neurology. Genetics Vol. 1; no. 3; p. e26
Main Authors:	Wang, Kang, McFarland, Karen N, Liu, Jilin, Zeng, Desmond, Landrian, Ivette, Xia, Guangbin, Hao, Ying, Jin, Miao, Mulligan, Connie J, Gu, Weihong, Ashizawa, Tetsuo
Format:	Journal Article
Language:	English
Published:	United States Wolters Kluwer 01-10-2015
Subjects:	Clinical/Scientific Notes
Online Access:	Get full text
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Summary:	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.
Bibliography:	ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23 These authors contributed equally to the manuscript.
ISSN:	2376-7839 2376-7839
DOI:	10.1212/NXG.0000000000000026