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

doi:10.1212/NXG.0000000000000026

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 journal › Article › peer-review

22 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 language	English (US)
Article number	e26
Pages (from-to)	e26
Journal	Neurology: Genetics
Volume	1
Issue number	3
DOIs	https://doi.org/10.1212/NXG.0000000000000026
State	Published - Oct 1 2015

Keywords

Journal Article

ASJC Scopus subject areas

Clinical Neurology
Genetics(clinical)

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10.1212/NXG.0000000000000026

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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.",

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AU - Wang, Kang

AU - McFarland, Karen N.

AU - Liu, Jilin

AU - Zeng, Desmond

AU - Landrian, Ivette

AU - Xia, Guangbin

AU - Hao, Ying

AU - Jin, Miao

AU - Mulligan, Connie J.

AU - Gu, Weihong

AU - Ashizawa, Tetsuo

PY - 2015/10/1

Y1 - 2015/10/1

N2 - 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.

AB - 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.

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Spinocerebellar ataxia type 10 in Chinese Han

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