SCA2 presenting as levodopa‐responsive parkinsonism in a young patient from the United Kingdom: A case report
Identifieur interne : 003B39 ( Main/Exploration ); précédent : 003B38; suivant : 003B40SCA2 presenting as levodopa‐responsive parkinsonism in a young patient from the United Kingdom: A case report
Auteurs : Alastair Wilkins [Royaume-Uni] ; Jerry M. Brown [Royaume-Uni] ; Roger A. Barker [Royaume-Uni]Source :
- Movement Disorders [ 0885-3185 ] ; 2004-05.
Descripteurs français
- Pascal (Inist)
- Wicri :
- topic : Homme.
English descriptors
- KwdEn :
- Adult, Alleles, Antiparkinson Agents (therapeutic use), Case study, Female, Human, Humans, Levodopa, Levodopa (therapeutic use), Nerve Tissue Proteins, Nervous system diseases, Parkinsonian Disorders (diagnosis), Parkinsonian Disorders (drug therapy), Parkinsonian Disorders (genetics), Parkinsonism, Phenotype, Proteins (genetics), SCA2, Spinocerebellar Ataxias (diagnosis), Spinocerebellar Ataxias (genetics), Trinucleotide Repeat Expansion (genetics), United Kingdom, levodopa, parkinsonism.
- 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. © 2004 Movement Disorder Society
Url:
DOI: 10.1002/mds.10715
Affiliations:
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Le document en format XML
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<term>Trinucleotide Repeat Expansion (genetics)</term>
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<term>Lévodopa</term>
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<front><div type="abstract" xml:lang="en">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. © 2004 Movement Disorder Society</div>
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<tree><country name="Royaume-Uni"><noRegion><name sortKey="Wilkins, Alastair" sort="Wilkins, Alastair" uniqKey="Wilkins A" first="Alastair" last="Wilkins">Alastair Wilkins</name>
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<name sortKey="Barker, Roger A" sort="Barker, Roger A" uniqKey="Barker R" first="Roger A." last="Barker">Roger A. Barker</name>
<name sortKey="Brown, Jerry M" sort="Brown, Jerry M" uniqKey="Brown J" first="Jerry M." last="Brown">Jerry M. Brown</name>
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