title: SCA-2 presenting as parkinsonism in an Alberta family: clinical, genetic, and PET findings.
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.
authors.affiliation: Movement Disorder Clinic, Department of Clinical Neurosciences, University of Calgary, Alberta, Canada.
authors.forename: S
authors.initials: S
authors.lastname: Furtado
authors.forename: M
authors.initials: M
authors.lastname: Farrer
authors.forename: Y
authors.initials: Y
authors.lastname: Tsuboi
authors.forename: M L
authors.initials: ML
authors.lastname: Klimek
authors.forename: R
authors.initials: R
authors.lastname: de la Fuente-Fernández
authors.forename: J
authors.initials: J
authors.lastname: Hussey
authors.forename: P
authors.initials: P
authors.lastname: Lockhart
authors.forename: D B
authors.initials: DB
authors.lastname: Calne
authors.forename: O
authors.initials: O
authors.lastname: Suchowersky
authors.forename: A J
authors.initials: AJ
authors.lastname: Stoessl
authors.forename: Z K
authors.initials: ZK
authors.lastname: Wszolek
mesh_terms: D000328:Adult; D017668:Age of Onset; D000368:Aged; D000369:Aged, 80 and over; D000416:Alberta; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D010300:Parkinson Disease / Q000000981:diagnostic imaging / Q000235:genetics* / Q000503:physiopathology; D010375:Pedigree; D012091:Repetitive Sequences, Nucleic Acid; D020754:Spinocerebellar Ataxias / Q000000981:diagnostic imaging / Q000235:genetics* / Q000503:physiopathology; D014055:Tomography, Emission-Computed