Spinocerebellar ataxia type 10 (SCA10): A disease caused by a novel pentanucleotide repeat expansion

Tetsuo Ashizawa, Tohru Matsuura

Research output: Contribution to journalArticle

3 Scopus citations

Abstract

Spinocerebellar ataxia type 10 (SCA10) is an autosomal dominant progressive disorder characterized by ataxia, seizures and anticipation, mapped to chromosome 22q13.3. We have found that the mutation of SCA10 is an unstable and massive expansion (800∼4,500 repeats) of the ATTCT pentanucleotide repeat in intron 9 of SCA 10 (also known as E46L), a novel gene of unknown function. The mutatuin, so far, has only been found in the population of the Mexican descent with a founder effect supported by haplotype data. The expansion size of the repeat inversely correlates with age of disease onset and SCA10 is highly expressed throughout the central nervous system. Expanded ATTCT repeats in SCA10 patients show repeat size instability in their somatic and germline cells as well as time-dependent instability in blood. This novel type of microsatellite repeat expansion is the largest found to date in human diseases. Its epidemiological, clinical, genetic and pathophysiological features need to be further investigated.

Original languageEnglish (US)
Pages (from-to)1120-1122
Number of pages3
JournalClinical Neurology
Volume41
Issue number12
StatePublished - Dec 1 2001

Keywords

  • ATTCT repeat
  • Dominant ataxia
  • Instability
  • SCA10
  • Seizure

ASJC Scopus subject areas

  • Clinical Neurology

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