SCA-2 presenting as parkinsonism in an Alberta family: Clinical, genetic, and PET findings

S. Furtado, M. Farrer, Y. Tsuboi, M. L. Klimek, R. De la Fuente-Fernández, J. Hussey, P. Lockhart, D. B. Calne, O. Suchowersky, A. J. Stoessl, Zbigniew K Wszolek

Research output: Contribution to journalArticle

70 Citations (Scopus)

Abstract

The authors describe an Alberta family with levodopa-responsive parkinsonism without cerebellar abnormalities. Genetic testing showed expanded repeats for SCA-2; other mutations for parkinsonism were excluded. The expanded allele shows interruption of the CAG repeat with CAA. PET in two affected members showed reduced fluorodopa uptake in striatum and normal raclopride binding. Families with autosomal dominant, levodopa-responsive parkinsonism should be tested for the SCA-2 mutation.

Original languageEnglish (US)
Pages (from-to)1625-1627
Number of pages3
JournalNeurology
Volume59
Issue number10
StatePublished - Nov 26 2002

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Alberta
Parkinsonian Disorders
Levodopa
Raclopride
Mutation
Genetic Testing
Alleles

ASJC Scopus subject areas

  • Neuroscience(all)

Cite this

Furtado, S., Farrer, M., Tsuboi, Y., Klimek, M. L., De la Fuente-Fernández, R., Hussey, J., ... Wszolek, Z. K. (2002). SCA-2 presenting as parkinsonism in an Alberta family: Clinical, genetic, and PET findings. Neurology, 59(10), 1625-1627.

SCA-2 presenting as parkinsonism in an Alberta family : Clinical, genetic, and PET findings. / Furtado, S.; Farrer, M.; Tsuboi, Y.; Klimek, M. L.; De la Fuente-Fernández, R.; Hussey, J.; Lockhart, P.; Calne, D. B.; Suchowersky, O.; Stoessl, A. J.; Wszolek, Zbigniew K.

In: Neurology, Vol. 59, No. 10, 26.11.2002, p. 1625-1627.

Research output: Contribution to journalArticle

Furtado, S, Farrer, M, Tsuboi, Y, Klimek, ML, De la Fuente-Fernández, R, Hussey, J, Lockhart, P, Calne, DB, Suchowersky, O, Stoessl, AJ & Wszolek, ZK 2002, 'SCA-2 presenting as parkinsonism in an Alberta family: Clinical, genetic, and PET findings', Neurology, vol. 59, no. 10, pp. 1625-1627.
Furtado S, Farrer M, Tsuboi Y, Klimek ML, De la Fuente-Fernández R, Hussey J et al. SCA-2 presenting as parkinsonism in an Alberta family: Clinical, genetic, and PET findings. Neurology. 2002 Nov 26;59(10):1625-1627.
Furtado, S. ; Farrer, M. ; Tsuboi, Y. ; Klimek, M. L. ; De la Fuente-Fernández, R. ; Hussey, J. ; Lockhart, P. ; Calne, D. B. ; Suchowersky, O. ; Stoessl, A. J. ; Wszolek, Zbigniew K. / SCA-2 presenting as parkinsonism in an Alberta family : Clinical, genetic, and PET findings. In: Neurology. 2002 ; Vol. 59, No. 10. pp. 1625-1627.
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