Abstract
Spinocerebellar ataxia type 10 (SCA10), an autosomal dominant cerebellar ataxia, is caused by the expansion of the non-coding ATTCT pentanucleotide repeat in the ATAXIN 10 gene. To date, all cases of SCA10 are restricted to patients with ancestral ties to Latin American countries. Here, we report on a SCA10 patient with Sioux Native American ancestry and no reported Hispanic or Latino heritage. Neurological exam findings revealed impaired gait with mild, age-consistent cerebellar atrophy and no evidence of epileptic seizures. The age at onset for this patient, at 83 years of age, is the latest documented for SCA10 patients and is suggestive of a reduced penetrance allele in his family. Southern blot analysis showed an SCA10 expanded allele of 1400 repeats. Established SNPs surrounding the SCA10 locus showed a disease haplotype consistent with the previously described “SCA10 haplotype”. This case suggests that the SCA10 expansion represents an early mutation event that possibly occurred during the initial peopling of the Americas.
Highlights
Spinocerebellar ataxia type 10 (SCA10; OMIM#603516) is an autosomal dominant cerebellar ataxia variably associated with epilepsy and other nervous system disorders [1,2]
The SCA10 mutation is an unstable expansion of an (ATTCT)n repeat in intron 9 of ATAXIN 10 (ATXN10; NCBI GeneID: 25814; Genomic DNA Accession: NG_016212.1) on chromosome 22q
We report a patient of Sioux Indian descent, from Minnesota, with a very late-onset ataxia and an expanded ATTCT repeat
Summary
Spinocerebellar ataxia type 10 (SCA10; OMIM#603516) is an autosomal dominant cerebellar ataxia variably associated with epilepsy and other nervous system disorders [1,2]. All reported SCA10 cases occur in patients from Latin America with oral family histories, and in most cases physical characteristics, of Amerindian ancestry [1,2,8,9,10,11,12,13]. The SCA10 mutation was believed to have arisen among Amerindian populations south of the US-Mexican border. We report a patient of Sioux Indian descent, from Minnesota, with a very late-onset ataxia and an expanded ATTCT repeat. This result indicates that the SCA10 mutation is present in Native Amerindian populations in North America and suggests that the mutation may have evolved early in the process that first led to the peopling of the Americas
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