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 journalArticle

67 Scopus citations

Abstract

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
Volume18
Issue number4
DOIs
StatePublished - Apr 1 2003

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Keywords

  • Levodopa
  • Parkinsonism
  • SCA2 mutation

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

Cite this

Payami, H., Nutt, J., Gancher, S., Bird, T., Gonzales McNeal, M., Seltzer, W. K., Hussey, J., Lockhart, P., Gwinn-Hardy, K., Singleton, A. A., Singleton, A. B., Hardy, J., & Farrer, M. (2003). SCA2 may present as levodopa-responsive parkinsonism. Movement Disorders, 18(4), 425-429. https://doi.org/10.1002/mds.10375