Why is SCA12 different from other SCAs?

S. E. Holmes, E. O'Hearn, R. L. Margolis

Research output: Contribution to journalReview articlepeer-review

Abstract

Spinocerebellar ataxia type 12 (SCA12), now described in European-American and Asian (Indian) pedigrees, is unique among the SCAs from clinical, pathological, and molecular perspectives. Clinically, the distinguishing feature is early and prominent action tremor with variability in other signs. Pathologically, brain MRIs also suggest variability, with prominent cortical as well as cerebellar atrophy. Genetically, SCA12 is caused by a CAG repeat expansion that does not encode polyglutamine; we speculate that the mutation may affect expression of the gene PPP2R2B, which encodes a brain-specific regulatory subunit of the protein phosphatase PP2A.

Original languageEnglish (US)
Pages (from-to)189-197
Number of pages9
JournalCytogenetic and Genome Research
Volume100
Issue number1-4
DOIs
StatePublished - 2003

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics
  • Genetics(clinical)

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