Spinocerebellar ataxia type 10 in Chinese Han.

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.

DOI: 10.1212/NXG.0000000000000026

Cite this paper

@article{Wang2015SpinocerebellarAT, title={Spinocerebellar ataxia type 10 in Chinese Han.}, author={Kang Wang and Karen N McFarland and Jilin Liu and Desmond Zeng and Ivette Landrian and Guangbin Xia and Ying Hao and Miao Jin and Connie J Mulligan and Weihong Gu and Tetsuo Ashizawa}, journal={Neurology. Genetics}, year={2015}, volume={1 3}, pages={e26} }