Spinocerebellar ataxia type 10 in Chinese Han
作者： Kang Wang , Karen N. McFarland , Jilin Liu , Desmond Zeng , Ivette Landrian
DOI: 10.1212/NXG.0000000000000026
关键词: Genetics 、 Spinocerebellar ataxia 、 Bioinformatics 、 Biology 、 Allele 、 Autosomal dominant cerebellar ataxia 、 Chinese han
摘要: Spinocerebellar ataxia type 10 (SCA10; OMIM #603516) is an autosomal dominant cerebellar with variably associated extracerebellar signs.(1,2) SCA10 caused by expanded noncoding pentanucleotide repeat in ATXN10, which normally ranges from 9 to 32 repeats(3,4); pathogenic alleles have as many 4,500 repeats.(4) To date, has been found exclusively on American continents. In this report, we describe a Chinese Han family expansion.
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