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, Z. K. Wszolek

Research output: Contribution to journalReview article

73 Scopus citations

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
DOIs
StatePublished - Nov 26 2002

ASJC Scopus subject areas

  • Clinical Neurology

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    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, Z. K. (2002). SCA-2 presenting as parkinsonism in an Alberta family: Clinical, genetic, and PET findings. Neurology, 59(10), 1625-1627. https://doi.org/10.1212/01.WNL.0000035625.19871.DC