SCA-2 presenting as parkinsonism in an Alberta family: clinical, genetic, and PET findings.
Identifieur interne : 002F61 ( Main/Exploration ); précédent : 002F60; suivant : 002F62SCA-2 presenting as parkinsonism in an Alberta family: clinical, genetic, and PET findings.
Auteurs : S. Furtado [Canada] ; 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 WszolekSource :
- Neurology [ 0028-3878 ] ; 2002.
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
Affiliations:
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Le document en format XML
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Furtado</name><affiliation wicri:level="4"><nlm:affiliation>Movement Disorder Clinic, Department of Clinical Neurosciences, University of Calgary, Alberta, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Movement Disorder Clinic, Department of Clinical Neurosciences, University of Calgary, Alberta</wicri:regionArea><orgName type="university">Université de Calgary</orgName><placeName><settlement type="city">Calgary</settlement><region type="state">Alberta</region></placeName></affiliation></author><author><name sortKey="Farrer, M" sort="Farrer, M" uniqKey="Farrer M" first="M" last="Farrer">M. Farrer</name></author><author><name sortKey="Tsuboi, Y" sort="Tsuboi, Y" uniqKey="Tsuboi Y" first="Y" last="Tsuboi">Y. Tsuboi</name></author><author><name sortKey="Klimek, M L" sort="Klimek, M L" uniqKey="Klimek M" first="M L" last="Klimek">M L Klimek</name></author><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></author><author><name sortKey="Hussey, J" sort="Hussey, J" uniqKey="Hussey J" first="J" last="Hussey">J. Hussey</name></author><author><name sortKey="Lockhart, P" sort="Lockhart, P" uniqKey="Lockhart P" first="P" last="Lockhart">P. Lockhart</name></author><author><name sortKey="Calne, D B" sort="Calne, D B" uniqKey="Calne D" first="D B" last="Calne">D B Calne</name></author><author><name sortKey="Suchowersky, O" sort="Suchowersky, O" uniqKey="Suchowersky O" first="O" last="Suchowersky">O. Suchowersky</name></author><author><name sortKey="Stoessl, A J" sort="Stoessl, A J" uniqKey="Stoessl A" first="A J" last="Stoessl">A J Stoessl</name></author><author><name sortKey="Wszolek, Z K" sort="Wszolek, Z K" uniqKey="Wszolek Z" first="Z K" last="Wszolek">Z K Wszolek</name></author></analytic><series><title level="j">Neurology</title><idno type="ISSN">0028-3878</idno><imprint><date when="2002" type="published">2002</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Age of Onset</term><term>Aged</term><term>Aged, 80 and over</term><term>Alberta</term><term>Female</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Parkinson Disease (diagnostic imaging)</term><term>Parkinson Disease (genetics)</term><term>Parkinson Disease (physiopathology)</term><term>Pedigree</term><term>Repetitive Sequences, Nucleic Acid</term><term>Spinocerebellar Ataxias (diagnostic imaging)</term><term>Spinocerebellar Ataxias (genetics)</term><term>Spinocerebellar Ataxias (physiopathology)</term><term>Tomography, Emission-Computed</term></keywords><keywords scheme="MESH" qualifier="diagnostic imaging" xml:lang="en"><term>Parkinson Disease</term><term>Spinocerebellar Ataxias</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Parkinson Disease</term><term>Spinocerebellar Ataxias</term></keywords><keywords scheme="MESH" qualifier="physiopathology" xml:lang="en"><term>Parkinson Disease</term><term>Spinocerebellar Ataxias</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Age of Onset</term><term>Aged</term><term>Aged, 80 and over</term><term>Alberta</term><term>Female</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Pedigree</term><term>Repetitive Sequences, Nucleic Acid</term><term>Tomography, Emission-Computed</term></keywords></textClass></profileDesc></teiHeader><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></front></TEI><affiliations><list><country><li>Canada</li></country><region><li>Alberta</li></region><settlement><li>Calgary</li></settlement><orgName><li>Université de Calgary</li></orgName></list><tree><noCountry><name sortKey="Calne, D B" sort="Calne, D B" uniqKey="Calne D" first="D B" last="Calne">D B Calne</name><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><name sortKey="Farrer, M" sort="Farrer, M" uniqKey="Farrer M" first="M" last="Farrer">M. 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