SCA2 presenting as levodopa-responsive parkinsonism in a young patient from the United Kingdom: a case report.
Identifieur interne : 003458 ( PubMed/Curation ); précédent : 003457; suivant : 003459SCA2 presenting as levodopa-responsive parkinsonism in a young patient from the United Kingdom: a case report.
Auteurs : Alastair Wilkins [Royaume-Uni] ; Jerry M. Brown ; Roger A. BarkerSource :
- Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2004.
English descriptors
- KwdEn :
- Adult, Alleles, Antiparkinson Agents (therapeutic use), Female, Humans, Levodopa (therapeutic use), Nerve Tissue Proteins, Parkinsonian Disorders (diagnosis), Parkinsonian Disorders (drug therapy), Parkinsonian Disorders (genetics), Phenotype, Proteins (genetics), Spinocerebellar Ataxias (diagnosis), Spinocerebellar Ataxias (genetics), Trinucleotide Repeat Expansion (genetics).
- MESH :
- chemical , genetics : Proteins.
- chemical , therapeutic use : Antiparkinson Agents, Levodopa.
- diagnosis : Parkinsonian Disorders, Spinocerebellar Ataxias.
- drug therapy : Parkinsonian Disorders.
- genetics : Parkinsonian Disorders, Spinocerebellar Ataxias, Trinucleotide Repeat Expansion.
- Adult, Alleles, Female, Humans, Nerve Tissue Proteins, Phenotype.
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.
DOI: 10.1002/mds.10715
PubMed: 15133829
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