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

doi:10.1212/01.wnl.0000035625.19871.dc

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

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

Authors

S Furtado¹, 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

Affiliation

¹ Movement Disorder Clinic, Department of Clinical Neurosciences, University of Calgary, Alberta, Canada.

PMID: 12451209
DOI: 10.1212/01.wnl.0000035625.19871.dc

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.

Publication types

Case Reports
Clinical Trial
Research Support, Non-U.S. Gov't
Research Support, U.S. Gov't, P.H.S.

MeSH terms

Adult
Age of Onset
Aged
Aged, 80 and over
Alberta
Female
Humans
Male
Middle Aged
Parkinson Disease / diagnostic imaging
Parkinson Disease / genetics*
Parkinson Disease / physiopathology
Pedigree
Repetitive Sequences, Nucleic Acid
Spinocerebellar Ataxias / diagnostic imaging
Spinocerebellar Ataxias / genetics*
Spinocerebellar Ataxias / physiopathology
Tomography, Emission-Computed