Characteristic head drops and axial extension in advanced chorea‐acanthocytosis
Identifieur interne : 001988 ( Istex/Corpus ); précédent : 001987; suivant : 001989Characteristic head drops and axial extension in advanced chorea‐acanthocytosis
Auteurs : Susanne A. Schneider ; Anthony E. Lang ; Elena Moro ; Benedikt Bader ; Adrian Danek ; Kailash P. BhatiaSource :
- Movement Disorders [ 0885-3185 ] ; 2010-07-30.
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Abstract
Chorea‐acanthocytosis is a rare autosomal recessive neurodegenerative disorder with a complex clinical presentation comprising of a mixed movement disorder (mostly chorea and dystonia), seizures, neuropathy and myopathy, autonomic features as well as dementia and psychiatric features. Because the differential diagnosis is wide, clinical clues and red flags are important. We report here our observation of characteristic neck and trunk flexion and extension spasms in four cases with advanced chorea‐acanthocytosis. © 2010 Movement Disorder Society
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DOI: 10.1002/mds.23052
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ISTEX:5C79C9ADF729B3293AD5BF5902E66A3305C7494ELe document en format XML
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Bhatia</name><affiliation><mods:affiliation>Sobell Department of Motor Neuroscience and Movement Disorders, UCL, Institute of Neurology, Queen Square, London, United Kingdom</mods:affiliation></affiliation></author></analytic><monogr></monogr><series><title level="j">Movement Disorders</title><title level="j" type="abbrev">Mov. 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Because the differential diagnosis is wide, clinical clues and red flags are important. We report here our observation of characteristic neck and trunk flexion and extension spasms in four cases with advanced chorea‐acanthocytosis. © 2010 Movement Disorder Society</div></front></TEI><istex><corpusName>wiley</corpusName><author><json:item><name>Susanne A. Schneider MD, PhD</name><affiliations><json:string>Sobell Department of Motor Neuroscience and Movement Disorders, UCL, Institute of Neurology, Queen Square, London, United Kingdom</json:string><json:string>Schilling‐Section of Neurogenetics, Department of Neurology, University of Lübeck, Luübeck, Germany</json:string></affiliations></json:item><json:item><name>Anthony E. Lang MD</name><affiliations><json:string>Morton and Gloria Shulman Movement Disorders Centre, Toronto Western Hospital, University of Toronto, UHN, Toronto, Ontario, Canada</json:string></affiliations></json:item><json:item><name>Elena Moro MD</name><affiliations><json:string>Morton and Gloria Shulman Movement Disorders Centre, Toronto Western Hospital, University of Toronto, UHN, Toronto, Ontario, Canada</json:string></affiliations></json:item><json:item><name>Benedikt Bader MD</name><affiliations><json:string>Neurologische Klinik und Poliklinik, Ludwig‐Maximilians‐Universität München, Munich, Germany</json:string></affiliations></json:item><json:item><name>Adrian Danek MD</name><affiliations><json:string>Neurologische Klinik und Poliklinik, Ludwig‐Maximilians‐Universität München, Munich, Germany</json:string></affiliations></json:item><json:item><name>Kailash P. 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date="2010-01-25"></event><event type="firstOnline" date="2010-06-11"></event><event type="publishedOnlineFinalForm" date="2010-07-23"></event><event type="publishedOnlineAcceptedOrEarlyUnpaginated" date="2010-06-11"></event><event type="xmlConverted" agent="Converter:JWSART34_TO_WML3G version:2.5.2 mode:FullText source:FullText result:FullText" date="2011-06-21"></event><event type="xmlConverted" agent="Converter:WILEY_ML3G_TO_WILEY_ML3GV2 version:3.8.8" date="2014-02-02"></event><event type="xmlConverted" agent="Converter:WML3G_To_WML3G version:4.1.7 mode:FullText,remove_FC" date="2014-10-31"></event></eventGroup><numberingGroup><numbering type="pageFirst">1487</numbering><numbering type="pageLast">1491</numbering></numberingGroup><correspondenceTo>Sobell Department of Motor Neuroscience and Movement Disorders, The National Hospital for Neurology and Neurosurgery, UCL, Institute of Neurology, London WC1N 3 BG, United Kingdom</correspondenceTo><linkGroup><link type="toTypesetVersion" href="file:MDS.MDS23052.pdf"></link></linkGroup></publicationMeta><contentMeta><countGroup><count type="figureTotal" number="0"></count><count type="tableTotal" number="1"></count><count type="referenceTotal" number="15"></count><count type="wordTotal" number="3137"></count></countGroup><titleGroup><title type="main" xml:lang="en">Characteristic head drops and axial extension in advanced chorea‐acanthocytosis<link href="#fn1"></link></title><title type="short" xml:lang="en">Axial Jerks in Chorea‐Acanthocytosis</title></titleGroup><creators><creator xml:id="au1" creatorRole="author" affiliationRef="#af1 #af2"><personName><givenNames>Susanne A.</givenNames><familyName>Schneider</familyName><degrees>MD, PhD</degrees></personName></creator><creator xml:id="au2" creatorRole="author" affiliationRef="#af3"><personName><givenNames>Anthony E.</givenNames><familyName>Lang</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au3" creatorRole="author" affiliationRef="#af3"><personName><givenNames>Elena</givenNames><familyName>Moro</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au4" creatorRole="author" affiliationRef="#af4"><personName><givenNames>Benedikt</givenNames><familyName>Bader</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au5" creatorRole="author" affiliationRef="#af4"><personName><givenNames>Adrian</givenNames><familyName>Danek</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au6" creatorRole="author" affiliationRef="#af1" corresponding="yes"><personName><givenNames>Kailash P.</givenNames><familyName>Bhatia</familyName><degrees>MD</degrees></personName><contactDetails><email>kbhatia@ion.ucl.ac.uk</email></contactDetails></creator></creators><affiliationGroup><affiliation xml:id="af1" countryCode="GB" type="organization"><unparsedAffiliation>Sobell Department of Motor Neuroscience and Movement Disorders, UCL, Institute of Neurology, Queen Square, London, United Kingdom</unparsedAffiliation></affiliation><affiliation xml:id="af2" countryCode="DE" type="organization"><unparsedAffiliation>Schilling‐Section of Neurogenetics, Department of Neurology, University of Lübeck, Luübeck, Germany</unparsedAffiliation></affiliation><affiliation xml:id="af3" countryCode="CA" type="organization"><unparsedAffiliation>Morton and Gloria Shulman Movement Disorders Centre, Toronto Western Hospital, University of Toronto, UHN, Toronto, Ontario, Canada</unparsedAffiliation></affiliation><affiliation xml:id="af4" countryCode="DE" type="organization"><unparsedAffiliation>Neurologische Klinik und Poliklinik, Ludwig‐Maximilians‐Universität München, Munich, Germany</unparsedAffiliation></affiliation></affiliationGroup><keywordGroup xml:lang="en" type="author"><keyword xml:id="kwd1">chorea‐acanthocytosis</keyword><keyword xml:id="kwd2">acanthocytes</keyword><keyword xml:id="kwd3">neuroacanthocytosis</keyword><keyword xml:id="kwd4">head drops</keyword><keyword xml:id="kwd5">trunk flexion</keyword><keyword xml:id="kwd6">trunk extension</keyword><keyword xml:id="kwd7">orobulbar features</keyword></keywordGroup><fundingInfo><fundingAgency>University of Lübeck, Germany (SAS)</fundingAgency></fundingInfo><fundingInfo><fundingAgency>Advocacy for Neuroacanthocytosis Patients (London, UK)</fundingAgency></fundingInfo><supportingInformation><supportingInfoItem><mediaResource alt="supporting information" href="urn-x:wiley:08853185:media:mds23052:case_1"></mediaResource><caption>Case 1</caption></supportingInfoItem><supportingInfoItem><mediaResource alt="supporting information" href="urn-x:wiley:08853185:media:mds23052:case_2"></mediaResource><caption>Case 2</caption></supportingInfoItem><supportingInfoItem><mediaResource alt="supporting information" href="urn-x:wiley:08853185:media:mds23052:case_3"></mediaResource><caption>Case 3</caption></supportingInfoItem><supportingInfoItem><mediaResource alt="supporting information" href="urn-x:wiley:08853185:media:mds23052:case_4"></mediaResource><caption>Case 4</caption></supportingInfoItem></supportingInformation><abstractGroup><abstract type="main" xml:lang="en"><title type="main">Abstract</title><p>Chorea‐acanthocytosis is a rare autosomal recessive neurodegenerative disorder with a complex clinical presentation comprising of a mixed movement disorder (mostly chorea and dystonia), seizures, neuropathy and myopathy, autonomic features as well as dementia and psychiatric features. Because the differential diagnosis is wide, clinical clues and red flags are important. We report here our observation of characteristic neck and trunk flexion and extension spasms in four cases with advanced chorea‐acanthocytosis. © 2010 Movement Disorder Society</p></abstract></abstractGroup></contentMeta><noteGroup><note xml:id="fn1"><p>Potential conflict of interest: Nothing to report.</p></note></noteGroup></header></component></istex:document></istex:metadataXml><!--Version 0.6 générée le 3-12-2015--><mods version="3.6"><titleInfo lang="en"><title>Characteristic head drops and axial extension in advanced chorea‐acanthocytosis</title></titleInfo><titleInfo type="abbreviated" lang="en"><title>Axial Jerks in Chorea‐Acanthocytosis</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>Characteristic head drops and axial extension in advanced chorea‐acanthocytosis</title></titleInfo><name type="personal"><namePart type="given">Susanne A.</namePart><namePart type="family">Schneider</namePart><namePart type="termsOfAddress">MD, PhD</namePart><affiliation>Sobell Department of Motor Neuroscience and Movement Disorders, UCL, Institute of Neurology, Queen Square, London, United Kingdom</affiliation><affiliation>Schilling‐Section of Neurogenetics, Department of Neurology, University of Lübeck, Luübeck, Germany</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Anthony E.</namePart><namePart type="family">Lang</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Morton and Gloria Shulman Movement Disorders Centre, Toronto Western Hospital, University of Toronto, UHN, Toronto, Ontario, Canada</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Elena</namePart><namePart type="family">Moro</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Morton and Gloria Shulman Movement Disorders Centre, Toronto Western Hospital, University of Toronto, UHN, Toronto, Ontario, Canada</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Benedikt</namePart><namePart type="family">Bader</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Neurologische Klinik und Poliklinik, Ludwig‐Maximilians‐Universität München, Munich, Germany</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Adrian</namePart><namePart type="family">Danek</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Neurologische Klinik und Poliklinik, Ludwig‐Maximilians‐Universität München, Munich, Germany</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Kailash P.</namePart><namePart type="family">Bhatia</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Sobell Department of Motor Neuroscience and Movement Disorders, UCL, Institute of Neurology, Queen Square, London, United Kingdom</affiliation><description>Correspondence: Sobell Department of Motor Neuroscience and Movement Disorders, The National Hospital for Neurology and Neurosurgery, UCL, Institute of Neurology, London WC1N 3 BG, 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">2010-07-30</dateIssued><dateCaptured encoding="w3cdtf">2009-10-29</dateCaptured><dateValid encoding="w3cdtf">2010-01-25</dateValid><copyrightDate encoding="w3cdtf">2010</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="tables">1</extent><extent unit="references">15</extent><extent unit="words">3137</extent></physicalDescription><abstract lang="en">Chorea‐acanthocytosis is a rare autosomal recessive neurodegenerative disorder with a complex clinical presentation comprising of a mixed movement disorder (mostly chorea and dystonia), seizures, neuropathy and myopathy, autonomic features as well as dementia and psychiatric features. Because the differential diagnosis is wide, clinical clues and red flags are important. We report here our observation of characteristic neck and trunk flexion and extension spasms in four cases with advanced chorea‐acanthocytosis. © 2010 Movement Disorder Society</abstract><note type="additional physical form">Case 1Case 2Case 3Case 4</note><note type="content">*Potential conflict of interest: Nothing to report.</note><note type="funding">University of Lübeck, Germany (SAS)</note><note type="funding">Advocacy for Neuroacanthocytosis Patients (London, UK)</note><subject lang="en"><genre>Keywords</genre><topic>chorea‐acanthocytosis</topic><topic>acanthocytes</topic><topic>neuroacanthocytosis</topic><topic>head drops</topic><topic>trunk flexion</topic><topic>trunk extension</topic><topic>orobulbar features</topic></subject><relatedItem type="host"><titleInfo><title>Movement Disorders</title></titleInfo><titleInfo type="abbreviated"><title>Mov. Disord.</title></titleInfo><subject><genre>article category</genre><topic>Brief Report</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>2010</date><detail type="volume"><caption>vol.</caption><number>25</number></detail><detail type="issue"><caption>no.</caption><number>10</number></detail><extent unit="pages"><start>1487</start><end>1491</end><total>5</total></extent></part></relatedItem><identifier type="istex">5C79C9ADF729B3293AD5BF5902E66A3305C7494E</identifier><identifier type="DOI">10.1002/mds.23052</identifier><identifier type="ArticleID">MDS23052</identifier><accessCondition type="use and reproduction" contentType="copyright">Copyright © 2010 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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