Abstract
We report on a young woman from the United Kingdom with L-dopa-responsive parkinsonism with a trinucleotide repeat expansion in her spinocerebellar ataxia 2 (SCA2) gene. The case further extends the phenotype of SCA2 and emphasizes the importance of SCA screening in young-onset parkinsonism, irrespective of ethnic origin.
Copyright 2004 Movement Disorder Society
MeSH terms
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Adult
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Alleles
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Antiparkinson Agents / therapeutic use*
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Ataxins
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Female
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Humans
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Levodopa / therapeutic use*
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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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Phenotype
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Proteins / genetics*
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Spinocerebellar Ataxias / diagnosis*
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Spinocerebellar Ataxias / genetics*
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Trinucleotide Repeat Expansion / 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