SCA-2 presenting as parkinsonism in an Alberta family: clinical, genetic, and PET findings.
Neurology
; 59(10): 1625-7, 2002 Nov 26.
Article
em En
| MEDLINE
| ID: mdl-12451209
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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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Doença de Parkinson
/
Ataxias Espinocerebelares
Tipo de estudo:
Diagnostic_studies
Limite:
Adult
/
Aged
/
Aged80
/
Female
/
Humans
/
Male
/
Middle aged
País/Região como assunto:
America do norte
Idioma:
En
Revista:
Neurology
Ano de publicação:
2002
Tipo de documento:
Article
País de afiliação:
Canadá