Parkinsonism and nigrostriatal dysfunction are associated with spinocerebellar ataxia type 6 (SCA6)
Identifieur interne : 003801 ( Main/Exploration ); précédent : 003800; suivant : 003802Parkinsonism and nigrostriatal dysfunction are associated with spinocerebellar ataxia type 6 (SCA6)
Auteurs : Naheed L. Khan [Royaume-Uni] ; Paola Giunti [Royaume-Uni] ; Mary G. Sweeney [Royaume-Uni] ; Christoph Scherfler [Royaume-Uni] ; Michael O. Brien [Royaume-Uni] ; Paola Piccini [Royaume-Uni] ; Nicholas W. Wood [Royaume-Uni] ; Andrew Lees (neurologue) [Royaume-Uni]Source :
- Movement Disorders [ 0885-3185 ] ; 2005-09.
Descripteurs français
- Pascal (Inist)
English descriptors
- KwdEn :
- Adult, Aged, Aged, 80 and over, CACNA1Al 18F Dopa PET, Calcium Channels (genetics), Cerebellar ataxia, Corpus Striatum (metabolism), Corpus Striatum (physiopathology), Dopa, Dysfunction, Emission tomography, Female, Fluorodeoxyglucose F18 (diagnostic use), Fluorodeoxyglucose F18 (pharmacokinetics), Humans, Male, Middle Aged, Nervous system diseases, Parkinsonian Disorders (diagnosis), Parkinsonian Disorders (etiology), Parkinsonian Disorders (physiopathology), Parkinsonism, Pedigree, Phenotype, Point Mutation (genetics), Positron, Positron emission tomography, Positron-Emission Tomography, SCA6, Spinocerebellar Ataxias (complications), Spinocerebellar Ataxias (diagnosis), Spinocerebellar Ataxias (genetics), Spinocerebellar ataxia, Substantia Nigra (metabolism), Substantia Nigra (physiopathology), Trinucleotide Repeat Expansion (genetics), cerebellar ataxia, parkinsonism.
- 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 18F‐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. © 2005 Movement Disorder Society
Url:
DOI: 10.1002/mds.20564
Affiliations:
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Khan</name><affiliation wicri:level="3"><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><affiliation wicri:level="3"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>MRC Clinical Sciences Centre and Division of Neuroscience, Faculty of Medicine, Imperial College, Hammersmith Hospital, 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><affiliation wicri:level="3"><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="Sweeney, Mary G" sort="Sweeney, Mary G" uniqKey="Sweeney M" first="Mary G." last="Sweeney">Mary G. Sweeney</name><affiliation wicri:level="3"><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="Scherfler, Christoph" sort="Scherfler, Christoph" uniqKey="Scherfler C" first="Christoph" last="Scherfler">Christoph Scherfler</name><affiliation wicri:level="3"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>MRC Clinical Sciences Centre and Division of Neuroscience, Faculty of Medicine, Imperial College, Hammersmith Hospital, 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="Brien, Michael O" sort="Brien, Michael O" uniqKey="Brien M" first="Michael O." last="Brien">Michael O. Brien</name><affiliation wicri:level="3"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Neurology, Guys Hospital, 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="Piccini, Paola" sort="Piccini, Paola" uniqKey="Piccini P" first="Paola" last="Piccini">Paola Piccini</name><affiliation wicri:level="3"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>MRC Clinical Sciences Centre and Division of Neuroscience, Faculty of Medicine, Imperial College, Hammersmith Hospital, 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="Wood, Nicholas W" sort="Wood, Nicholas W" uniqKey="Wood N" first="Nicholas W." last="Wood">Nicholas W. Wood</name><affiliation wicri:level="3"><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="Lees, Andrew J" sort="Lees, Andrew J" uniqKey="Lees A" first="Andrew J." last="Lees">Andrew Lees (neurologue)</name><affiliation wicri:level="3"><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><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName><orgName>National Hospital for Neurology and Neurosurgery</orgName></affiliation><affiliation wicri:level="3"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Reta Lila Weston Institute of Neurological Studies, Royal Free Hospital and University College Medical School, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName><orgName>National Hospital for Neurology and Neurosurgery</orgName></affiliation></author></analytic><monogr></monogr><series><title level="j">Movement Disorders</title><title level="j" type="sub">Official Journal of the Movement Disorder Society</title><title level="j" type="abbrev">Mov. Disord.</title><idno type="ISSN">0885-3185</idno><idno type="eISSN">1531-8257</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2005-09">2005-09</date><biblScope unit="vol">20</biblScope><biblScope unit="issue">9</biblScope><biblScope unit="page" from="1115">1115</biblScope><biblScope unit="page" to="1119">1119</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">97B5EC4B92FBD267222DBD8DEEB9FDE6296A20DE</idno><idno type="DOI">10.1002/mds.20564</idno><idno type="ArticleID">MDS20564</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Aged</term><term>Aged, 80 and over</term><term>CACNA1Al 18F Dopa PET</term><term>Calcium Channels (genetics)</term><term>Cerebellar ataxia</term><term>Corpus Striatum (metabolism)</term><term>Corpus Striatum (physiopathology)</term><term>Dopa</term><term>Dysfunction</term><term>Emission tomography</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>Nervous system diseases</term><term>Parkinsonian Disorders (diagnosis)</term><term>Parkinsonian Disorders (etiology)</term><term>Parkinsonian Disorders (physiopathology)</term><term>Parkinsonism</term><term>Pedigree</term><term>Phenotype</term><term>Point Mutation (genetics)</term><term>Positron</term><term>Positron emission tomography</term><term>Positron-Emission Tomography</term><term>SCA6</term><term>Spinocerebellar Ataxias (complications)</term><term>Spinocerebellar Ataxias (diagnosis)</term><term>Spinocerebellar Ataxias (genetics)</term><term>Spinocerebellar ataxia</term><term>Substantia Nigra (metabolism)</term><term>Substantia Nigra (physiopathology)</term><term>Trinucleotide Repeat Expansion (genetics)</term><term>cerebellar ataxia</term><term>parkinsonism</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><keywords scheme="Pascal" xml:lang="fr"><term>Ataxie cérébelleuse</term><term>Ataxie spinocérébelleuse</term><term>Dopa</term><term>Parkinsonisme</term><term>Positon</term><term>Système nerveux pathologie</term><term>Tomographie émission positon</term><term>Tomoscintigraphie</term><term>Trouble fonctionnel</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></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 18F‐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. © 2005 Movement Disorder Society</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><orgName><li>National Hospital for Neurology and Neurosurgery</li></orgName></list><tree><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. Khan</name></region><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="Khan, Naheed L" sort="Khan, Naheed L" uniqKey="Khan N" first="Naheed L." last="Khan">Naheed L. Khan</name><name sortKey="Lees, Andrew J" sort="Lees, Andrew J" uniqKey="Lees A" first="Andrew J." last="Lees">Andrew Lees (neurologue)</name><name sortKey="Lees, Andrew J" sort="Lees, Andrew J" uniqKey="Lees A" first="Andrew J." last="Lees">Andrew Lees (neurologue)</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></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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