Parkinsonism and nigrostriatal dysfunction are associated with spinocerebellar ataxia type 6 (SCA6)
Identifieur interne : 003280 ( Istex/Corpus ); précédent : 003279; suivant : 003281Parkinsonism and nigrostriatal dysfunction are associated with spinocerebellar ataxia type 6 (SCA6)
Auteurs : Naheed L. Khan ; Paola Giunti ; Mary G. Sweeney ; Christoph Scherfler ; Michael O. Brien ; Paola Piccini ; Nicholas W. Wood ; Andrew J. LeesSource :
- Movement Disorders [ 0885-3185 ] ; 2005-09.
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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
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DOI: 10.1002/mds.20564
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Lees</name><affiliation><mods:affiliation>Department of Molecular Neurosciences, Institute of Neurology, London, United Kingdom</mods:affiliation></affiliation><affiliation><mods:affiliation>Reta Lila Weston Institute of Neurological Studies, Royal Free Hospital and University College Medical School, London, United Kingdom</mods:affiliation></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. 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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><istex><corpusName>wiley</corpusName><author><json:item><name>Naheed L. 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Sweeney</name><affiliations><json:string>Department of Molecular Neurosciences, Institute of Neurology, London, United Kingdom</json:string></affiliations></json:item><json:item><name>Christoph Scherfler</name><affiliations><json:string>MRC Clinical Sciences Centre and Division of Neuroscience, Faculty of Medicine, Imperial College, Hammersmith Hospital, London, United Kingdom</json:string></affiliations></json:item><json:item><name>Michael O. Brien</name><affiliations><json:string>Department of Neurology, Guys Hospital, London, United Kingdom</json:string></affiliations></json:item><json:item><name>Paola Piccini MD, PhD</name><affiliations><json:string>MRC Clinical Sciences Centre and Division of Neuroscience, Faculty of Medicine, Imperial College, Hammersmith Hospital, London, United Kingdom</json:string></affiliations></json:item><json:item><name>Nicholas W. 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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. 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University College Medical School, London, United Kingdom</unparsedAffiliation></affiliation></affiliationGroup><keywordGroup xml:lang="en" type="author"><keyword xml:id="kwd1">SCA6</keyword><keyword xml:id="kwd2">cerebellar ataxia</keyword><keyword xml:id="kwd3"><i>CACNA1A</i>l <sup>18</sup>F Dopa PET</keyword><keyword xml:id="kwd4">parkinsonism</keyword></keywordGroup><fundingInfo><fundingAgency>Parkinson's Disease Society</fundingAgency></fundingInfo><fundingInfo><fundingAgency>Brain Research Trust</fundingAgency></fundingInfo><fundingInfo><fundingAgency>VI Framwork Program of the European Commission (EUROSCA Integrated Project)</fundingAgency><fundingNumber>LSHM‐CT‐2004‐503304</fundingNumber></fundingInfo><fundingInfo><fundingAgency>Ataxia UK</fundingAgency></fundingInfo><supportingInformation><p> This article includes Supplementary Video, available online at <url href="http://www.interscience.wiley.com/jpages/0885-3185/suppmat"> http://www.interscience.wiley.com/jpages/0885‐3185/suppmat </url> . </p><supportingInfoItem><mediaResource alt="supporting information" href="urn-x:wiley:08853185:media:mds20564:jws-mds"></mediaResource><caption> Subject III.6 (Family 2) shows facial hypomimia and a mixed cerebellar and parkinsonian dysarthrophonia with bilateral bradykinesia. Gait is broad‐based and there is poor arm swing. This video presentation has been abbreviated. The full version will appear on theMovementDisorders DVD Supplement, which is issued bi‐annually. </caption></supportingInfoItem></supportingInformation><abstractGroup><abstract type="main" xml:lang="en"><title type="main">Abstract</title><p>SCA6 is a slowly progressive, late‐onset cerebellar ataxia due to a trinucleotide expansion in the <i>CACNA1A</i> gene. We describe two unrelated cases that presented with Parkinsonism and cerebellar ataxia. One case was <sc>L</sc>‐dopa–responsive with a pattern of <sup>18</sup>F‐dopa uptake similar to Parkinson's disease, and the second case was not <sc>L</sc>‐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</p></abstract></abstractGroup></contentMeta></header></component></istex:document></istex:metadataXml><!--Version 0.6 générée le 4-12-2015--><mods version="3.6"><titleInfo lang="en"><title>Parkinsonism and nigrostriatal dysfunction are associated with spinocerebellar ataxia type 6 (SCA6)</title></titleInfo><titleInfo type="abbreviated" lang="en"><title>Parkinsonism and Nigrostriatal Dysfunction</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>Parkinsonism and nigrostriatal dysfunction are associated with spinocerebellar ataxia type 6 (SCA6)</title></titleInfo><name type="personal"><namePart type="given">Naheed L.</namePart><namePart type="family">Khan</namePart><namePart type="termsOfAddress">MD, MRCP</namePart><affiliation>Department of Molecular Neurosciences, Institute of Neurology, London, United Kingdom</affiliation><affiliation>MRC Clinical Sciences Centre and Division of Neuroscience, Faculty of Medicine, Imperial College, Hammersmith Hospital, London, United Kingdom</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Paola</namePart><namePart type="family">Giunti</namePart><namePart type="termsOfAddress">MD, PhD</namePart><affiliation>Department of Molecular Neurosciences, Institute of Neurology, London, United Kingdom</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Mary G.</namePart><namePart type="family">Sweeney</namePart><affiliation>Department of Molecular Neurosciences, Institute of Neurology, London, United Kingdom</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Christoph</namePart><namePart type="family">Scherfler</namePart><affiliation>MRC Clinical Sciences Centre and Division of Neuroscience, Faculty of Medicine, Imperial College, Hammersmith Hospital, London, United Kingdom</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Michael O.</namePart><namePart type="family">Brien</namePart><affiliation>Department of Neurology, Guys Hospital, London, United Kingdom</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Paola</namePart><namePart type="family">Piccini</namePart><namePart type="termsOfAddress">MD, PhD</namePart><affiliation>MRC Clinical Sciences Centre and Division of Neuroscience, Faculty of Medicine, Imperial College, Hammersmith Hospital, London, United Kingdom</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Nicholas W.</namePart><namePart type="family">Wood</namePart><namePart type="termsOfAddress">PhD, FRCP, FMedSci</namePart><affiliation>Department of Molecular Neurosciences, Institute of Neurology, London, United Kingdom</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Andrew J.</namePart><namePart type="family">Lees</namePart><namePart type="termsOfAddress">MD, FRCP</namePart><affiliation>Department of Molecular Neurosciences, Institute of Neurology, London, United Kingdom</affiliation><affiliation>Reta Lila Weston Institute of Neurological Studies, Royal Free Hospital and University College Medical School, London, United Kingdom</affiliation><description>Correspondence: Reta Lila Weston Institute of Neurological Studies, Royal Free Hospital and University College Medical School, Windeyer Building, 46 Cleveland Street, London W1P 6DB, United Kingdom</description><role><roleTerm type="text">author</roleTerm></role></name><typeOfResource>text</typeOfResource><genre authority="originalCategForm">article</genre><originInfo><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><place><placeTerm type="text">Hoboken</placeTerm></place><dateIssued encoding="w3cdtf">2005-09</dateIssued><dateCaptured encoding="w3cdtf">2004-09-07</dateCaptured><dateValid encoding="w3cdtf">2004-12-19</dateValid><copyrightDate encoding="w3cdtf">2005</copyrightDate></originInfo><language><languageTerm type="code" authority="rfc3066">en</languageTerm><languageTerm type="code" authority="iso639-2b">eng</languageTerm></language><physicalDescription><internetMediaType>text/html</internetMediaType><extent unit="figures">2</extent><extent unit="tables">1</extent><extent unit="references">21</extent><extent unit="words">2695</extent></physicalDescription><abstract 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</abstract><note type="funding">Parkinson's Disease Society</note><note type="funding">Brain Research Trust</note><note type="funding">VI Framwork Program of the European Commission (EUROSCA Integrated Project) - No. LSHM‐CT‐2004‐503304; </note><note type="funding">Ataxia UK</note><subject lang="en"><genre>Keywords</genre><topic>SCA6</topic><topic>cerebellar ataxia</topic><topic>CACNA1Al 18F Dopa PET</topic><topic>parkinsonism</topic></subject><relatedItem type="host"><titleInfo><title>Movement Disorders</title><subTitle>Official Journal of the Movement Disorder Society</subTitle></titleInfo><titleInfo type="abbreviated"><title>Mov. Disord.</title></titleInfo><note type="content"> This article includes Supplementary Video, available online at http://www.interscience.wiley.com/jpages/0885‐3185/suppmat .Supporting Info Item: Subject III.6 (Family 2) shows facial hypomimia and a mixed cerebellar and parkinsonian dysarthrophonia with bilateral bradykinesia. Gait is broad‐based and there is poor arm swing. This video presentation has been abbreviated. The full version will appear on theMovementDisorders DVD Supplement, which is issued bi‐annually. - </note><subject><genre>article category</genre><topic>Research Article with Video</topic></subject><identifier type="ISSN">0885-3185</identifier><identifier type="eISSN">1531-8257</identifier><identifier type="DOI">10.1002/(ISSN)1531-8257</identifier><identifier type="PublisherID">MDS</identifier><part><date>2005</date><detail type="volume"><caption>vol.</caption><number>20</number></detail><detail type="issue"><caption>no.</caption><number>9</number></detail><extent unit="pages"><start>1115</start><end>1119</end><total>5</total></extent></part></relatedItem><identifier type="istex">97B5EC4B92FBD267222DBD8DEEB9FDE6296A20DE</identifier><identifier type="DOI">10.1002/mds.20564</identifier><identifier type="ArticleID">MDS20564</identifier><accessCondition type="use and reproduction" contentType="copyright">Copyright © 2005 Movement Disorder Society</accessCondition><recordInfo><recordOrigin>Wiley Subscription Services, Inc., A Wiley Company</recordOrigin><recordContentSource>WILEY</recordContentSource></recordInfo></mods></metadata><serie></serie></istex></record>Pour manipuler ce document sous Unix (Dilib)
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