Parkinsonism and nigrostriatal dysfunction are associated with spinocerebellar ataxia type 6 (SCA6).
Identifieur interne : 001289 ( Ncbi/Checkpoint ); précédent : 001288; suivant : 001290Parkinsonism and nigrostriatal dysfunction are associated with spinocerebellar ataxia type 6 (SCA6).
Auteurs : Naheed L. Khan [Royaume-Uni] ; Paola Giunti ; Mary G. Sweeney ; Christoph Scherfler ; Michael O. Brien ; Paola Piccini ; Nicholas W. Wood ; Andrew J. LeesSource :
- Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2005.
English descriptors
- KwdEn :
- Adult, Aged, Aged, 80 and over, Calcium Channels (genetics), Corpus Striatum (metabolism), Corpus Striatum (physiopathology), Female, Fluorodeoxyglucose F18 (diagnostic use), Fluorodeoxyglucose F18 (pharmacokinetics), Humans, Male, Middle Aged, Parkinsonian Disorders (diagnosis), Parkinsonian Disorders (etiology), Parkinsonian Disorders (physiopathology), Pedigree, Phenotype, Point Mutation (genetics), Positron-Emission Tomography, Spinocerebellar Ataxias (complications), Spinocerebellar Ataxias (diagnosis), Spinocerebellar Ataxias (genetics), Substantia Nigra (metabolism), Substantia Nigra (physiopathology), Trinucleotide Repeat Expansion (genetics).
- MESH :
- chemical , diagnostic use : Fluorodeoxyglucose F18.
- chemical , genetics : Calcium Channels.
- complications : Spinocerebellar Ataxias.
- diagnosis : Parkinsonian Disorders, Spinocerebellar Ataxias.
- etiology : Parkinsonian Disorders.
- genetics : Point Mutation, Spinocerebellar Ataxias, Trinucleotide Repeat Expansion.
- metabolism : Corpus Striatum, Substantia Nigra.
- chemical , pharmacokinetics : Fluorodeoxyglucose F18.
- physiopathology : Corpus Striatum, Parkinsonian Disorders, Substantia Nigra.
- Adult, Aged, Aged, 80 and over, Female, Humans, Male, Middle Aged, Pedigree, Phenotype, Positron-Emission Tomography.
Abstract
SCA6 is a slowly progressive, late-onset cerebellar ataxia due to a trinucleotide expansion in the CACNA1A gene. We describe two unrelated cases that presented with Parkinsonism and cerebellar ataxia. One case was L-dopa-responsive with a pattern of (18)F-dopa uptake similar to Parkinson's disease, and the second case was not L-dopa-responsive and had an atypical pattern of nigrostriatal dysfunction. We suggest that SCA6, in common with SCA2 and SCA3, may be associated with Parkinsonism attributable to nigral loss and dopaminergic dysfunction. Moreover, isolated cases may be confused with multiple system atrophy.
DOI: 10.1002/mds.20564
PubMed: 15954136
Affiliations:
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Khan</name><affiliation wicri:level="3"><nlm:affiliation>Department of Molecular Neurosciences, Institute of Neurology, London, United Kingdom.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Molecular Neurosciences, Institute of Neurology, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Giunti, Paola" sort="Giunti, Paola" uniqKey="Giunti P" first="Paola" last="Giunti">Paola Giunti</name></author><author><name sortKey="Sweeney, Mary G" sort="Sweeney, Mary G" uniqKey="Sweeney M" first="Mary G" last="Sweeney">Mary G. Sweeney</name></author><author><name sortKey="Scherfler, Christoph" sort="Scherfler, Christoph" uniqKey="Scherfler C" first="Christoph" last="Scherfler">Christoph Scherfler</name></author><author><name sortKey="Brien, Michael O" sort="Brien, Michael O" uniqKey="Brien M" first="Michael O" last="Brien">Michael O. Brien</name></author><author><name sortKey="Piccini, Paola" sort="Piccini, Paola" uniqKey="Piccini P" first="Paola" last="Piccini">Paola Piccini</name></author><author><name sortKey="Wood, Nicholas W" sort="Wood, Nicholas W" uniqKey="Wood N" first="Nicholas W" last="Wood">Nicholas W. Wood</name></author><author><name sortKey="Lees, Andrew J" sort="Lees, Andrew J" uniqKey="Lees A" first="Andrew J" last="Lees">Andrew J. 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Khan</name><affiliation wicri:level="3"><nlm:affiliation>Department of Molecular Neurosciences, Institute of Neurology, London, United Kingdom.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Molecular Neurosciences, Institute of Neurology, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Giunti, Paola" sort="Giunti, Paola" uniqKey="Giunti P" first="Paola" last="Giunti">Paola Giunti</name></author><author><name sortKey="Sweeney, Mary G" sort="Sweeney, Mary G" uniqKey="Sweeney M" first="Mary G" last="Sweeney">Mary G. Sweeney</name></author><author><name sortKey="Scherfler, Christoph" sort="Scherfler, Christoph" uniqKey="Scherfler C" first="Christoph" last="Scherfler">Christoph Scherfler</name></author><author><name sortKey="Brien, Michael O" sort="Brien, Michael O" uniqKey="Brien M" first="Michael O" last="Brien">Michael O. Brien</name></author><author><name sortKey="Piccini, Paola" sort="Piccini, Paola" uniqKey="Piccini P" first="Paola" last="Piccini">Paola Piccini</name></author><author><name sortKey="Wood, Nicholas W" sort="Wood, Nicholas W" uniqKey="Wood N" first="Nicholas W" last="Wood">Nicholas W. Wood</name></author><author><name sortKey="Lees, Andrew J" sort="Lees, Andrew J" uniqKey="Lees A" first="Andrew J" last="Lees">Andrew J. Lees</name></author></analytic><series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title><idno type="ISSN">0885-3185</idno><imprint><date when="2005" type="published">2005</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Aged</term><term>Aged, 80 and over</term><term>Calcium Channels (genetics)</term><term>Corpus Striatum (metabolism)</term><term>Corpus Striatum (physiopathology)</term><term>Female</term><term>Fluorodeoxyglucose F18 (diagnostic use)</term><term>Fluorodeoxyglucose F18 (pharmacokinetics)</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Parkinsonian Disorders (diagnosis)</term><term>Parkinsonian Disorders (etiology)</term><term>Parkinsonian Disorders (physiopathology)</term><term>Pedigree</term><term>Phenotype</term><term>Point Mutation (genetics)</term><term>Positron-Emission Tomography</term><term>Spinocerebellar Ataxias (complications)</term><term>Spinocerebellar Ataxias (diagnosis)</term><term>Spinocerebellar Ataxias (genetics)</term><term>Substantia Nigra (metabolism)</term><term>Substantia Nigra (physiopathology)</term><term>Trinucleotide Repeat Expansion (genetics)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="diagnostic use" xml:lang="en"><term>Fluorodeoxyglucose F18</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Calcium Channels</term></keywords><keywords scheme="MESH" qualifier="complications" xml:lang="en"><term>Spinocerebellar Ataxias</term></keywords><keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Parkinsonian Disorders</term><term>Spinocerebellar Ataxias</term></keywords><keywords scheme="MESH" qualifier="etiology" xml:lang="en"><term>Parkinsonian Disorders</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Point Mutation</term><term>Spinocerebellar Ataxias</term><term>Trinucleotide Repeat Expansion</term></keywords><keywords scheme="MESH" qualifier="metabolism" xml:lang="en"><term>Corpus Striatum</term><term>Substantia Nigra</term></keywords><keywords scheme="MESH" type="chemical" qualifier="pharmacokinetics" xml:lang="en"><term>Fluorodeoxyglucose F18</term></keywords><keywords scheme="MESH" qualifier="physiopathology" xml:lang="en"><term>Corpus Striatum</term><term>Parkinsonian Disorders</term><term>Substantia Nigra</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Aged</term><term>Aged, 80 and over</term><term>Female</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Pedigree</term><term>Phenotype</term><term>Positron-Emission Tomography</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">SCA6 is a slowly progressive, late-onset cerebellar ataxia due to a trinucleotide expansion in the CACNA1A gene. We describe two unrelated cases that presented with Parkinsonism and cerebellar ataxia. One case was L-dopa-responsive with a pattern of (18)F-dopa uptake similar to Parkinson's disease, and the second case was not L-dopa-responsive and had an atypical pattern of nigrostriatal dysfunction. We suggest that SCA6, in common with SCA2 and SCA3, may be associated with Parkinsonism attributable to nigral loss and dopaminergic dysfunction. Moreover, isolated cases may be confused with multiple system atrophy.</div></front></TEI><affiliations><list><country><li>Royaume-Uni</li></country><region><li>Angleterre</li><li>Grand Londres</li></region><settlement><li>Londres</li></settlement></list><tree><noCountry><name sortKey="Brien, Michael O" sort="Brien, Michael O" uniqKey="Brien M" first="Michael O" last="Brien">Michael O. Brien</name><name sortKey="Giunti, Paola" sort="Giunti, Paola" uniqKey="Giunti P" first="Paola" last="Giunti">Paola Giunti</name><name sortKey="Lees, Andrew J" sort="Lees, Andrew J" uniqKey="Lees A" first="Andrew J" last="Lees">Andrew J. Lees</name><name sortKey="Piccini, Paola" sort="Piccini, Paola" uniqKey="Piccini P" first="Paola" last="Piccini">Paola Piccini</name><name sortKey="Scherfler, Christoph" sort="Scherfler, Christoph" uniqKey="Scherfler C" first="Christoph" last="Scherfler">Christoph Scherfler</name><name sortKey="Sweeney, Mary G" sort="Sweeney, Mary G" uniqKey="Sweeney M" first="Mary G" last="Sweeney">Mary G. Sweeney</name><name sortKey="Wood, Nicholas W" sort="Wood, Nicholas W" uniqKey="Wood N" first="Nicholas W" last="Wood">Nicholas W. Wood</name></noCountry><country name="Royaume-Uni"><region name="Angleterre"><name sortKey="Khan, Naheed L" sort="Khan, Naheed L" uniqKey="Khan N" first="Naheed L" last="Khan">Naheed L. 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