Interruptions in the expanded ATTCT repeat of spinocerebellar ataxia type 10: Repeat purity as a disease modifier?

Tohru Matsuura, Ping Fang, Christopher E. Pearson, Parul Jayakar, Tetsuo Ashizawa, Benjamin B. Roa, David L. Nelson

Research output: Contribution to journalArticle

67 Scopus citations

Abstract

Spinocerebellar ataxia type 10 (SCA10) is one of numerous genetic disorders that result from simple repeat expansions. SCA10 is caused by expansion of an intronic ATTCT pentanucleotide repeat tract. It is clinically characterized by progressive ataxia, seizures, and anticipation, which can vary within and between families. We report two SCA10 families showing distinct frequencies of seizures and correlations of repeat length with age at onset. One family displayed uninterrupted ATTCT expansions, whereas the other showed multiple interruptions of the repeat by nonconsensus repeat units, which differed both in the length and/or sequence of the repeat unit. Disease-causing microsatellite expansions have been assumed to be composed of uninterrupted pure repeats. Our findings for SCA10 challenge this convention and suggest that the purity of the expanded repeat element may be a disease modifier.

Original languageEnglish (US)
Pages (from-to)125-129
Number of pages5
JournalAmerican Journal of Human Genetics
Volume78
Issue number1
DOIs
StatePublished - Jan 2006

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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