Abstract
Among 242 patients with apparently sporadic Parkinson's disease, a 70-year-old man with a CAG repeat number of 37 in the SCA2 gene was identified. He has remained responsive to levodopa 14 years after onset and has had no overt signs suggesting cerebellar dysfunction. Although it is not possible to confirm if this patient has a de novo mutation of the SCA2 gene, this genetic defect seems to be contributing to his parkinsonian features and further supports the concept that apparently sporadic, late-onset, levodopa-responsive Parkinson's disease may have multiple causes.
Publication types
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Research Support, Non-U.S. Gov't
MeSH terms
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Aged
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Alleles
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Antiparkinson Agents / therapeutic use
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Ataxins
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Caudate Nucleus / diagnostic imaging
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DNA Mutational Analysis*
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Dominance, Cerebral / physiology
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Genetic Carrier Screening
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Genetic Testing
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Humans
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Levodopa / therapeutic use
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Male
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Middle Aged
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Nerve Tissue Proteins
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Neurologic Examination
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Parkinson Disease / diagnostic imaging
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Parkinson Disease / drug therapy
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Parkinson Disease / genetics*
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Polymerase Chain Reaction
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Positron-Emission Tomography
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Proteins / genetics*
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Putamen / diagnostic imaging
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Spinocerebellar Ataxias / diagnostic imaging
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Spinocerebellar Ataxias / genetics*
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Treatment Outcome
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Trinucleotide Repeats
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Ubiquitin-Protein Ligases / genetics*
Substances
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Antiparkinson Agents
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Ataxins
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Nerve Tissue Proteins
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Proteins
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Levodopa
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Ubiquitin-Protein Ligases
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parkin protein