Spinocerebellar ataxia type 2 presenting as familial levodopa-responsive parkinsonism.
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Abstract
A genetic analysis identified 2 patients, approximately one-tenth of our patients with familial parkinsonism, who had expanded trinucleotide repeats in SCA2 genes. The reduction of 18F-dopa distribution in both the putamen and caudate nuclei confirmed that the nigrostriatal dopaminergic system was involved in parkinsonian patients with SCA2 mutation.
Medical subject headings
- Levodopa
- Parkinsonian Disorders
- Proteins
- Spinocerebellar Ataxias
- Trinucleotide Repeats