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Published on: March 11, 2021
Spinocerebellar ataxia type 10 in Chinese Han
Kang Wang1, Karen N McFarland1, Jilin Liu1
1Department of Neurology (K.W., Y.H., M.J., W.G.), China-Japan Friendship Hospital, Chaoyang, Beijing, China; and Department of Neurology and McKnight Brain Institute (K.N.M., J.L., D.Z., I.L., G.X., T.A.) and Department of Anthropology and Genetics Institute (C.J.M.), University of Florida, Gainesville.
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.
