SCA2 may present as levodopa-responsive parkinsonism

Haydeh Payami, John Nutt, Steven Gancher, Thomas Bird, Melissa Gonzales McNeal, William K. Seltzer, Jennifer Hussey, Paul Lockhart, Katrina Gwinn-Hardy, Amanda A. Singleton, Andrew B. Singleton, John Hardy, Matthew Farrer

Research output: Contribution to journalArticlepeer-review

76 Scopus citations


Some kindreds with familial parkinsonism exhibit genetic anticipation, suggesting possible involvement of trinucleotide repeat expansion. Recent reports have shown trinucleotide repeat expansions in the spinocerebellar ataxia 2 (SCA2) gene in patients with levodopa-responsive parkinsonism. We tested 136 unrelated patients with familial parkinsonism for SCA2 mutations. Two probands had borderline mutations; the rest were normal. (≤31 repeats is normal, 32-35 is borderline, ≥36 is pathogenic). The expanded allele segregated with neurological signs in one kindred. The absence of borderline mutations in the normal population, and the co-segregation of the expanded allele with neurological signs in one kindred suggest that SCA2 mutations may be responsible for a subset of familial parkinsonism.

Original languageEnglish (US)
Pages (from-to)425-429
Number of pages5
JournalMovement Disorders
Issue number4
StatePublished - Apr 1 2003


  • Levodopa
  • Parkinsonism
  • SCA2 mutation

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology


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