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.
Publication types
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Research Support, Non-U.S. Gov't
MeSH terms
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Adult
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Aged
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Ataxins
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Brain / diagnostic imaging
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Brain / metabolism
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Brain / physiopathology
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China
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Female
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Fluorine Radioisotopes / metabolism
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Gait
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Humans
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Levodopa / analogs & derivatives
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Levodopa / metabolism*
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Male
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Middle Aged
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Nerve Tissue Proteins
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Parkinsonian Disorders / diagnosis
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Parkinsonian Disorders / drug therapy
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Parkinsonian Disorders / genetics*
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Parkinsonian Disorders / physiopathology
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Pedigree
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Proteins / genetics*
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Spinocerebellar Ataxias / diagnosis
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Spinocerebellar Ataxias / genetics*
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Spinocerebellar Ataxias / physiopathology
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Tomography, Emission-Computed
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Trinucleotide Repeats / genetics*
Substances
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Ataxins
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Fluorine Radioisotopes
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Nerve Tissue Proteins
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Proteins
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Levodopa