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Clinical Trial
. 2002 Nov 26;59(10):1625-7.
doi: 10.1212/01.wnl.0000035625.19871.dc.

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

S Furtado  1 , 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
Affiliations
Clinical Trial

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

S Furtado et al. Neurology. .

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.

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