Spinocerebellar ataxia type 2 presenting as familial levodopa‐responsive parkinsonism
- 29 November 2001
- journal article
- research article
- Published by Wiley in Annals of Neurology
- Vol. 50 (6) , 812-815
- https://doi.org/10.1002/ana.10055
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.Keywords
This publication has 16 references indexed in Scilit:
- The pathophysiology of tremorMuscle & Nerve, 2001
- Genetics of Parkinsonism: a reviewAnnals of Human Genetics, 2001
- Machado‐joseph disease: Clinical, molecular, and metabolic characterization in chinese kindredsAnnals of Neurology, 1997
- Central phenotype and related varieties of spinocerebellar ataxia 2 (SCA2): a clinical and genetic study with a pedigree in the JapaneseJournal of the Neurological Sciences, 1996
- Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2Nature Genetics, 1996
- Dopa‐responsive parkinsonism phenotype of Machado‐Joseph disease: Confirmation of 14q CAG expansionAnnals of Neurology, 1995
- Genetic anticipation in Parkinson's diseaseNeurology, 1995
- 6-[18F]fluoro-l-DOPA Metabolism in Living Human Brain: A Comparison of Six Analytical MethodsJournal of Cerebral Blood Flow & Metabolism, 1993
- Parkinson's Disease in Taiwan: An Analysis of 215 PatientsNeuroepidemiology, 1992
- Differing patterns of striatal 18F‐dopa uptake in Parkinson's disease, multiple system atrophy, and progressive supranuclear palsyAnnals of Neurology, 1990