Expansion of the spinocerebellar ataxia type 10 (SCA10) repeat in a patient with Sioux Native American ancestry

Khalaf Bushara, Matthew Bower, Jilin Liu, Karen N. McFarland, Ivette Landrian, Diane Hutter, Hélio A G Teive, Astrid Rasmussen, Connie J. Mulligan, Tetsuo Ashizawa

Research output: Contribution to journalArticle

15 Scopus citations

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 gaitwithmild, 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 consistentwith 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.

Original languageEnglish (US)
Article numbere81342
JournalPLoS ONE
Volume8
Issue number11
DOIs
StatePublished - Nov 20 2013

ASJC Scopus subject areas

  • Biochemistry, Genetics and Molecular Biology(all)
  • Agricultural and Biological Sciences(all)
  • General

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