ParkinsonCanadaV1, PubMed, Corpus, bibRecord, 001479

SCA-2 presenting as parkinsonism in an Alberta family: clinical, genetic, and PET findings.

Identifieur interne : 001479 ( PubMed/Corpus ); précédent : 001478; suivant : 001480

SCA-2 presenting as parkinsonism in an Alberta family: clinical, genetic, and PET findings.

Auteurs : S. Furtado ; M. Farrer ; Y. Tsuboi ; M L Klimek ; R. De La Fuente-Fernández ; J. Hussey ; P. Lockhart ; D B Calne ; O. Suchowersky ; A J Stoessl ; Z K Wszolek

Source :

Neurology [ 0028-3878 ] ; 2002.

RBID : pubmed:12451209

English descriptors

KwdEn :
- Adult, Age of Onset, Aged, Aged, 80 and over, Alberta, Female, Humans, Male, Middle Aged, Parkinson Disease (diagnostic imaging), Parkinson Disease (genetics), Parkinson Disease (physiopathology), Pedigree, Repetitive Sequences, Nucleic Acid, Spinocerebellar Ataxias (diagnostic imaging), Spinocerebellar Ataxias (genetics), Spinocerebellar Ataxias (physiopathology), Tomography, Emission-Computed.
MESH :
- diagnostic imaging : Parkinson Disease, Spinocerebellar Ataxias.
- genetics : Parkinson Disease, Spinocerebellar Ataxias.
- physiopathology : Parkinson Disease, Spinocerebellar Ataxias.
- Adult, Age of Onset, Aged, Aged, 80 and over, Alberta, Female, Humans, Male, Middle Aged, Pedigree, Repetitive Sequences, Nucleic Acid, Tomography, Emission-Computed.

Abstract

The authors describe an Alberta family with levodopa-responsive parkinsonism without cerebellar abnormalities. Genetic testing showed expanded repeats for SCA-2; other mutations for parkinsonism were excluded. The expanded allele shows interruption of the CAG repeat with CAA. PET in two affected members showed reduced fluorodopa uptake in striatum and normal raclopride binding. Families with autosomal dominant, levodopa-responsive parkinsonism should be tested for the SCA-2 mutation.

PubMed: 12451209

Links to Exploration step

pubmed:12451209

Le document en format XML

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<author><name sortKey="Furtado, S" sort="Furtado, S" uniqKey="Furtado S" first="S" last="Furtado">S. Furtado</name>
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<author><name sortKey="Farrer, M" sort="Farrer, M" uniqKey="Farrer M" first="M" last="Farrer">M. Farrer</name>
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<author><name sortKey="Klimek, M L" sort="Klimek, M L" uniqKey="Klimek M" first="M L" last="Klimek">M L Klimek</name>
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<author><name sortKey="De La Fuente Fernandez, R" sort="De La Fuente Fernandez, R" uniqKey="De La Fuente Fernandez R" first="R" last="De La Fuente-Fernández">R. De La Fuente-Fernández</name>
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<author><name sortKey="Hussey, J" sort="Hussey, J" uniqKey="Hussey J" first="J" last="Hussey">J. Hussey</name>
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<author><name sortKey="Lockhart, P" sort="Lockhart, P" uniqKey="Lockhart P" first="P" last="Lockhart">P. Lockhart</name>
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<author><name sortKey="Calne, D B" sort="Calne, D B" uniqKey="Calne D" first="D B" last="Calne">D B Calne</name>
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<author><name sortKey="Suchowersky, O" sort="Suchowersky, O" uniqKey="Suchowersky O" first="O" last="Suchowersky">O. Suchowersky</name>
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<author><name sortKey="Stoessl, A J" sort="Stoessl, A J" uniqKey="Stoessl A" first="A J" last="Stoessl">A J Stoessl</name>
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<term>Female</term>
<term>Humans</term>
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<front><div type="abstract" xml:lang="en">The authors describe an Alberta family with levodopa-responsive parkinsonism without cerebellar abnormalities. Genetic testing showed expanded repeats for SCA-2; other mutations for parkinsonism were excluded. The expanded allele shows interruption of the CAG repeat with CAA. PET in two affected members showed reduced fluorodopa uptake in striatum and normal raclopride binding. Families with autosomal dominant, levodopa-responsive parkinsonism should be tested for the SCA-2 mutation.</div>
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	La maladie de Parkinson au Canada (serveur d'exploration)
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La maladie de Parkinson au Canada (serveur d'exploration)

SCA-2 presenting as parkinsonism in an Alberta family: clinical, genetic, and PET findings.

SCA-2 presenting as parkinsonism in an Alberta family: clinical, genetic, and PET findings.

Source :

English descriptors

Abstract

Links to Exploration step

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri

Pour générer des pages wiki