SCA-2 presenting as parkinsonism in an Alberta family
- 26 November 2002
- journal article
- Published by Wolters Kluwer Health in Neurology
- Vol. 59 (10) , 1625-1627
- https://doi.org/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.Keywords
This publication has 10 references indexed in Scilit:
- Spinocerebellar ataxia type 2 presenting as familial levodopa‐responsive parkinsonismAnnals of Neurology, 2001
- Biochemical variations in the synaptic level of dopamine precede motor fluctuations in Parkinson's disease: PET evidence of increased dopamine turnoverAnnals of Neurology, 2001
- Linkage exclusion in French families with probable Parkinson's diseaseMovement Disorders, 2000
- Spinocerebellar ataxia type 2 with parkinsonism in ethnic ChineseNeurology, 2000
- In vivo positron emission tomographic evidence for compensatory changes in presynaptic dopaminergic nerve terminals in Parkinson's diseaseAnnals of Neurology, 2000
- PET studies of parkinsonism associated with mutation in the α-synuclein geneNeurology, 1999
- Mutations in the parkin gene cause autosomal recessive juvenile parkinsonismNature, 1998
- Olfactory dysfunction in familial parkinsonismNeurology, 1997
- Mutation in the α-Synuclein Gene Identified in Families with Parkinson's DiseaseScience, 1997
- Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2Nature Genetics, 1996