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 Citations (Scopus)

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
Externally publishedYes

Fingerprint

Spinocerebellar Ataxias
Parkinsonian Disorders
Levodopa
Trinucleotide Repeat Expansion
Mutation
Genetic Anticipation
Alleles
Population
Genes

Keywords

  • Levodopa
  • Parkinsonism
  • SCA2 mutation

ASJC Scopus subject areas

  • Clinical Neurology
  • Neuroscience(all)

Cite this

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

SCA2 may present as levodopa-responsive parkinsonism. / Payami, Haydeh; Nutt, John; Gancher, Steven; Bird, Thomas; Gonzales McNeal, Melissa; Seltzer, William K.; Hussey, Jennifer; Lockhart, Paul; Gwinn-Hardy, Katrina; Singleton, Amanda A.; Singleton, Andrew B.; Hardy, John; Farrer, Matthew.

In: Movement Disorders, Vol. 18, No. 4, 01.04.2003, p. 425-429.

Research output: Contribution to journalArticle

Payami, H, Nutt, J, Gancher, S, Bird, T, Gonzales McNeal, M, Seltzer, WK, Hussey, J, Lockhart, P, Gwinn-Hardy, K, Singleton, AA, Singleton, AB, Hardy, J & Farrer, M 2003, 'SCA2 may present as levodopa-responsive parkinsonism', Movement Disorders, vol. 18, no. 4, pp. 425-429. https://doi.org/10.1002/mds.10375
Payami H, Nutt J, Gancher S, Bird T, Gonzales McNeal M, Seltzer WK et al. SCA2 may present as levodopa-responsive parkinsonism. Movement Disorders. 2003 Apr 1;18(4):425-429. https://doi.org/10.1002/mds.10375
Payami, Haydeh ; Nutt, John ; Gancher, Steven ; Bird, Thomas ; Gonzales McNeal, Melissa ; Seltzer, William K. ; Hussey, Jennifer ; Lockhart, Paul ; Gwinn-Hardy, Katrina ; Singleton, Amanda A. ; Singleton, Andrew B. ; Hardy, John ; Farrer, Matthew. / SCA2 may present as levodopa-responsive parkinsonism. In: Movement Disorders. 2003 ; Vol. 18, No. 4. pp. 425-429.
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