Spinocerebellar ataxia type 2 presenting as familial levodopa-responsive parkinsonism

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 i...

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Bibliographic Details
Published in:Annals of neurology 2001-12, Vol.50 (6), p.812-815
Main Authors: Shan, Din-E, Soong, Bing-Wen, Sun, Chen-Ming, Lee, Shwn-Jen, Liao, Kwong-Kum, Liu, Ren-Shyan
Format: Article
Language:English
Subjects:
Adult
Aged
Ataxins
Biological and medical sciences
Brain - diagnostic imaging
Brain - metabolism
Brain - physiopathology
China
Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases
Female
Fluorine Radioisotopes - metabolism
Gait
Humans
Levodopa - analogs & derivatives
Levodopa - metabolism
Male
Medical sciences
Middle Aged
Nerve Tissue Proteins
Neurology
Parkinsonian Disorders - diagnosis
Parkinsonian Disorders - drug therapy
Parkinsonian Disorders - genetics
Parkinsonian Disorders - physiopathology
Pedigree
Proteins - genetics
Spinocerebellar Ataxias - diagnosis
Spinocerebellar Ataxias - genetics
Spinocerebellar Ataxias - physiopathology
Tomography, Emission-Computed
Trinucleotide Repeats - genetics
Tropical medicine
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Summary: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.
ISSN:0364-5134
1531-8249
DOI:10.1002/ana.10055