Adult‐onset chorea and mitochondrial cytopathy
Identifieur interne : 003379 ( Istex/Corpus ); précédent : 003378; suivant : 003380Adult‐onset chorea and mitochondrial cytopathy
Auteurs : Morgane Caer ; Karine Viala ; Richard Levy ; Thierry Maisonobe ; Florence Chochon ; Agnès Lombès ; Yves AgidSource :
- Movement Disorders [ 0885-3185 ] ; 2005-04.
English descriptors
Abstract
We report on 2 adult patients presenting with choreic movements as the main clinical feature of mitochondrial cytopathy. One patient exhibited a sensory neuronopathy and ophthalmoplegia. The other had ptosis, a proximal myopathy, and a sensory neuropathy. The diagnosis of mitochondrial cytopathy was established by the presence of ragged red fibers, cytochrome C oxydase‐negative fibers, and a defect of the complex IV of the respiratory chain in muscle biopsy. No mutations in mitochondrial DNA were detected. The choreic movements observed in juvenile forms of mitochondrial cytopathy are rarely observed in adults. Although striatal vulnerability is commonly reported in patients with mitochondrial disorders, the mechanism by which the mitochondrial dysfunction leads to chorea is not known. © 2004 Movement Disorder Society
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DOI: 10.1002/mds.20363
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ISTEX:49C7725613DBD7DC4F26AAB57748030392532D2FLe document en format XML
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One patient exhibited a sensory neuronopathy and ophthalmoplegia. The other had ptosis, a proximal myopathy, and a sensory neuropathy. The diagnosis of mitochondrial cytopathy was established by the presence of ragged red fibers, cytochrome C oxydase‐negative fibers, and a defect of the complex IV of the respiratory chain in muscle biopsy. No mutations in mitochondrial DNA were detected. The choreic movements observed in juvenile forms of mitochondrial cytopathy are rarely observed in adults. Although striatal vulnerability is commonly reported in patients with mitochondrial disorders, the mechanism by which the mitochondrial dysfunction leads to chorea is not known. © 2004 Movement Disorder Society</div></front></TEI><istex><corpusName>wiley</corpusName><author><json:item><name>Morgane Caer MD</name><affiliations><json:string>Fédération de Neurologie, Groupe hospitalier de la Pitié‐Salpétrière, Paris, France</json:string></affiliations></json:item><json:item><name>Karine Viala MD</name><affiliations><json:string>Fédération de Neurologie, Groupe hospitalier de la Pitié‐Salpétrière, Paris, France</json:string></affiliations></json:item><json:item><name>Richard Levy MD, PhD</name><affiliations><json:string>Fédération de Neurologie, Groupe hospitalier de la Pitié‐Salpétrière, Paris, France</json:string></affiliations></json:item><json:item><name>Thierry Maisonobe MD</name><affiliations><json:string>Laboratoire de Neurophysiologie, Groupe hospitalier de la Pitié‐Salpétrière, Paris, France</json:string></affiliations></json:item><json:item><name>Florence Chochon MD</name><affiliations><json:string>Fédération de Neurologie, Groupe hospitalier de la Pitié‐Salpétrière, Paris, France</json:string></affiliations></json:item><json:item><name>Agnès Lombès MD</name><affiliations><json:string>INSERM U523, Groupe hospitalier de la Pitié‐Salpétrière, Paris, France</json:string></affiliations></json:item><json:item><name>Yves Agid MD, PhD</name><affiliations><json:string>Fédération de Neurologie, Groupe hospitalier de la Pitié‐Salpétrière, Paris, France</json:string></affiliations></json:item></author><subject><json:item><lang><json:string>eng</json:string></lang><value>chorea</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>mitochondrial cytopathy</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>mitochondrial DNA</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>movement disorders</value></json:item></subject><language><json:string>eng</json:string></language><abstract>We report on 2 adult patients presenting with choreic movements as the main clinical feature of mitochondrial cytopathy. 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Disord.</title></titleGroup></publicationMeta><publicationMeta level="part" position="40"><doi origin="wiley" registered="yes">10.1002/mds.v20:4</doi><numberingGroup><numbering type="journalVolume" number="20">20</numbering><numbering type="journalIssue">4</numbering></numberingGroup><coverDate startDate="2005-04">April 2005</coverDate></publicationMeta><publicationMeta level="unit" type="article" position="150" status="forIssue"><doi origin="wiley" registered="yes">10.1002/mds.20363</doi><idGroup><id type="unit" value="MDS20363"></id></idGroup><countGroup><count type="pageTotal" number="3"></count></countGroup><titleGroup><title type="articleCategory">Brief Report</title><title type="tocHeading1">Brief Reports</title></titleGroup><copyright ownership="thirdParty">Copyright © 2004 Movement Disorder Society</copyright><eventGroup><event type="manuscriptReceived" date="2004-06-29"></event><event type="manuscriptRevised" date="2004-08-13"></event><event type="manuscriptAccepted" date="2004-08-15"></event><event type="firstOnline" date="2004-12-13"></event><event type="publishedOnlineFinalForm" date="2005-04-05"></event><event type="publishedOnlineAcceptedOrEarlyUnpaginated" date="2004-12-13"></event><event type="xmlConverted" agent="Converter:JWSART34_TO_WML3G version:2.4.7 mode:FullText source:FullText result:FullText" date="2011-02-24"></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">490</numbering><numbering type="pageLast">492</numbering></numberingGroup><correspondenceTo>Fédération de Neurologie, Groupe hospitalier de la Pitié‐Salpetrière, Boulevard de l'Hôpital, 75013 Paris, France</correspondenceTo><linkGroup><link type="toTypesetVersion" href="file:MDS.MDS20363.pdf"></link></linkGroup></publicationMeta><contentMeta><countGroup><count type="figureTotal" number="0"></count><count type="tableTotal" number="0"></count><count type="referenceTotal" number="13"></count><count type="wordTotal" number="1541"></count></countGroup><titleGroup><title type="main" xml:lang="en">Adult‐onset chorea and mitochondrial cytopathy</title><title type="short" xml:lang="en">Chorea and Mitochondrial Diseases</title></titleGroup><creators><creator xml:id="au1" creatorRole="author" affiliationRef="#af1"><personName><givenNames>Morgane</givenNames><familyName>Caer</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au2" creatorRole="author" affiliationRef="#af1"><personName><givenNames>Karine</givenNames><familyName>Viala</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au3" creatorRole="author" affiliationRef="#af1" corresponding="yes"><personName><givenNames>Richard</givenNames><familyName>Levy</familyName><degrees>MD, PhD</degrees></personName><contactDetails><email normalForm="richard.levy@psl.ap-hop-paris.fr">richard.levy@psl.ap‐hop‐paris.fr</email></contactDetails></creator><creator xml:id="au4" creatorRole="author" affiliationRef="#af2"><personName><givenNames>Thierry</givenNames><familyName>Maisonobe</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au5" creatorRole="author" affiliationRef="#af1"><personName><givenNames>Florence</givenNames><familyName>Chochon</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au6" creatorRole="author" affiliationRef="#af3"><personName><givenNames>Agnès</givenNames><familyName>Lombès</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au7" creatorRole="author" affiliationRef="#af1"><personName><givenNames>Yves</givenNames><familyName>Agid</familyName><degrees>MD, PhD</degrees></personName></creator></creators><affiliationGroup><affiliation xml:id="af1" countryCode="FR" type="organization"><unparsedAffiliation>Fédération de Neurologie, Groupe hospitalier de la Pitié‐Salpétrière, Paris, France</unparsedAffiliation></affiliation><affiliation xml:id="af2" countryCode="FR" type="organization"><unparsedAffiliation>Laboratoire de Neurophysiologie, Groupe hospitalier de la Pitié‐Salpétrière, Paris, France</unparsedAffiliation></affiliation><affiliation xml:id="af3" countryCode="FR" type="organization"><unparsedAffiliation>INSERM U523, Groupe hospitalier de la Pitié‐Salpétrière, Paris, France</unparsedAffiliation></affiliation></affiliationGroup><keywordGroup xml:lang="en" type="author"><keyword xml:id="kwd1">chorea</keyword><keyword xml:id="kwd2">mitochondrial cytopathy</keyword><keyword xml:id="kwd3">mitochondrial DNA</keyword><keyword xml:id="kwd4">movement disorders</keyword></keywordGroup><abstractGroup><abstract type="main" xml:lang="en"><title type="main">Abstract</title><p>We report on 2 adult patients presenting with choreic movements as the main clinical feature of mitochondrial cytopathy. One patient exhibited a sensory neuronopathy and ophthalmoplegia. The other had ptosis, a proximal myopathy, and a sensory neuropathy. The diagnosis of mitochondrial cytopathy was established by the presence of ragged red fibers, cytochrome C oxydase‐negative fibers, and a defect of the complex IV of the respiratory chain in muscle biopsy. No mutations in mitochondrial DNA were detected. The choreic movements observed in juvenile forms of mitochondrial cytopathy are rarely observed in adults. Although striatal vulnerability is commonly reported in patients with mitochondrial disorders, the mechanism by which the mitochondrial dysfunction leads to chorea is not known. © 2004 Movement Disorder Society</p></abstract></abstractGroup></contentMeta></header></component></istex:document></istex:metadataXml><!--Version 0.6 générée le 3-12-2015--><mods version="3.6"><titleInfo lang="en"><title>Adult‐onset chorea and mitochondrial cytopathy</title></titleInfo><titleInfo type="abbreviated" lang="en"><title>Chorea and Mitochondrial Diseases</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>Adult‐onset chorea and mitochondrial cytopathy</title></titleInfo><name type="personal"><namePart type="given">Morgane</namePart><namePart type="family">Caer</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Fédération de Neurologie, Groupe hospitalier de la Pitié‐Salpétrière, Paris, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Karine</namePart><namePart type="family">Viala</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Fédération de Neurologie, Groupe hospitalier de la Pitié‐Salpétrière, Paris, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Richard</namePart><namePart type="family">Levy</namePart><namePart type="termsOfAddress">MD, PhD</namePart><affiliation>Fédération de Neurologie, Groupe hospitalier de la Pitié‐Salpétrière, Paris, France</affiliation><description>Correspondence: Fédération de Neurologie, Groupe hospitalier de la Pitié‐Salpetrière, Boulevard de l'Hôpital, 75013 Paris, France</description><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Thierry</namePart><namePart type="family">Maisonobe</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Laboratoire de Neurophysiologie, Groupe hospitalier de la Pitié‐Salpétrière, Paris, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Florence</namePart><namePart type="family">Chochon</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Fédération de Neurologie, Groupe hospitalier de la Pitié‐Salpétrière, Paris, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Agnès</namePart><namePart type="family">Lombès</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>INSERM U523, Groupe hospitalier de la Pitié‐Salpétrière, Paris, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Yves</namePart><namePart type="family">Agid</namePart><namePart type="termsOfAddress">MD, PhD</namePart><affiliation>Fédération de Neurologie, Groupe hospitalier de la Pitié‐Salpétrière, Paris, France</affiliation><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">2005-04</dateIssued><dateCaptured encoding="w3cdtf">2004-06-29</dateCaptured><dateValid encoding="w3cdtf">2004-08-15</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="references">13</extent><extent unit="words">1541</extent></physicalDescription><abstract lang="en">We report on 2 adult patients presenting with choreic movements as the main clinical feature of mitochondrial cytopathy. One patient exhibited a sensory neuronopathy and ophthalmoplegia. The other had ptosis, a proximal myopathy, and a sensory neuropathy. The diagnosis of mitochondrial cytopathy was established by the presence of ragged red fibers, cytochrome C oxydase‐negative fibers, and a defect of the complex IV of the respiratory chain in muscle biopsy. No mutations in mitochondrial DNA were detected. The choreic movements observed in juvenile forms of mitochondrial cytopathy are rarely observed in adults. Although striatal vulnerability is commonly reported in patients with mitochondrial disorders, the mechanism by which the mitochondrial dysfunction leads to chorea is not known. © 2004 Movement Disorder Society</abstract><subject lang="en"><genre>Keywords</genre><topic>chorea</topic><topic>mitochondrial cytopathy</topic><topic>mitochondrial DNA</topic><topic>movement disorders</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>2005</date><detail type="volume"><caption>vol.</caption><number>20</number></detail><detail type="issue"><caption>no.</caption><number>4</number></detail><extent unit="pages"><start>490</start><end>492</end><total>3</total></extent></part></relatedItem><identifier type="istex">49C7725613DBD7DC4F26AAB57748030392532D2F</identifier><identifier type="DOI">10.1002/mds.20363</identifier><identifier type="ArticleID">MDS20363</identifier><accessCondition type="use and reproduction" contentType="copyright">Copyright © 2004 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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