Myopathy as a first symptom of Huntington's disease in a Marathon runner
Identifieur interne : 003238 ( Istex/Corpus ); précédent : 003237; suivant : 003239Myopathy as a first symptom of Huntington's disease in a Marathon runner
Auteurs : Christoph M. Kosinski ; Christiane Schlangen ; Frank N. Gellerich ; Zemfira Gizatullina ; Markus Deschauer ; Johannes Schiefer ; Anne B. Young ; Georg Bernhard Landwehrmeyer ; Klaus V. Toyka ; Bernd Sellhaus ; Katrin S. LindenbergSource :
- Movement Disorders [ 0885-3185 ] ; 2007-08-15.
English descriptors
Abstract
A semi professional marathon runner at risk for Huntington's disease (HD) (43 CAG repeats) developed signs of a slowly progressive myopathy with exercise‐induced muscle fatigue, pain, elevated creatine kinase level, and worsening of his running performance many years before first signs of chorea were detected. Muscle biopsy displayed a mild myopathy with mitochondrial pathology including a complex IV deficiency and analysis of the patient's fibroblast culture demonstrated deficits in mitochondrial function. Challenging skeletal muscle by excessive training might have disclosed myopathy in HD even years before the appearance of other neurological symptoms. © 2007 Movement Disorder Society
Url:
DOI: 10.1002/mds.21550
Links to Exploration step
ISTEX:CB296A996A45921164E5BA2AA1DA1333805A3A6DLe document en format XML
<record><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title xml:lang="en">Myopathy as a first symptom of Huntington's disease in a Marathon runner</title><author><name sortKey="Kosinski, Christoph M" sort="Kosinski, Christoph M" uniqKey="Kosinski C" first="Christoph M." last="Kosinski">Christoph M. Kosinski</name><affiliation><mods:affiliation>Department of Neurology, University Hospital RWTH Aachen, Germany</mods:affiliation></affiliation></author><author><name sortKey="Schlangen, Christiane" sort="Schlangen, Christiane" uniqKey="Schlangen C" first="Christiane" last="Schlangen">Christiane Schlangen</name><affiliation><mods:affiliation>Department of Neurology, University Hospital RWTH Aachen, Germany</mods:affiliation></affiliation></author><author><name sortKey="Gellerich, Frank N" sort="Gellerich, Frank N" uniqKey="Gellerich F" first="Frank N." last="Gellerich">Frank N. Gellerich</name><affiliation><mods:affiliation>KeyNeurotek Pharmaceuticals AG, Magdeburg, Germany</mods:affiliation></affiliation></author><author><name sortKey="Gizatullina, Zemfira" sort="Gizatullina, Zemfira" uniqKey="Gizatullina Z" first="Zemfira" last="Gizatullina">Zemfira Gizatullina</name><affiliation><mods:affiliation>Department of Neurology, Martin‐Luther‐University, Halle, Germany</mods:affiliation></affiliation></author><author><name sortKey="Deschauer, Markus" sort="Deschauer, Markus" uniqKey="Deschauer M" first="Markus" last="Deschauer">Markus Deschauer</name><affiliation><mods:affiliation>Department of Neurology, Martin‐Luther‐University, Halle, Germany</mods:affiliation></affiliation></author><author><name sortKey="Schiefer, Johannes" sort="Schiefer, Johannes" uniqKey="Schiefer J" first="Johannes" last="Schiefer">Johannes Schiefer</name><affiliation><mods:affiliation>Department of Neurology, University Hospital RWTH Aachen, Germany</mods:affiliation></affiliation></author><author><name sortKey="Young, Anne B" sort="Young, Anne B" uniqKey="Young A" first="Anne B." last="Young">Anne B. Young</name><affiliation><mods:affiliation>MassGeneral Institute for Neurodegenerative Disease (MIND), Massachusetts General Hospital and Harvard Medical School, Charlestown, Massachusetts, USA</mods:affiliation></affiliation></author><author><name sortKey="Landwehrmeyer, Georg Bernhard" sort="Landwehrmeyer, Georg Bernhard" uniqKey="Landwehrmeyer G" first="Georg Bernhard" last="Landwehrmeyer">Georg Bernhard Landwehrmeyer</name><affiliation><mods:affiliation>Department of Neurology, Ulm University, Ulm, Germany</mods:affiliation></affiliation></author><author><name sortKey="Toyka, Klaus V" sort="Toyka, Klaus V" uniqKey="Toyka K" first="Klaus V." last="Toyka">Klaus V. Toyka</name><affiliation><mods:affiliation>Department of Neurology, Julius‐Maximilian‐University, Würzburg, Germany</mods:affiliation></affiliation></author><author><name sortKey="Sellhaus, Bernd" sort="Sellhaus, Bernd" uniqKey="Sellhaus B" first="Bernd" last="Sellhaus">Bernd Sellhaus</name><affiliation><mods:affiliation>Institute of Neuropathology, University Hospital RWTH Aachen, Germany</mods:affiliation></affiliation></author><author><name sortKey="Lindenberg, Katrin S" sort="Lindenberg, Katrin S" uniqKey="Lindenberg K" first="Katrin S." last="Lindenberg">Katrin S. Lindenberg</name><affiliation><mods:affiliation>MassGeneral Institute for Neurodegenerative Disease (MIND), Massachusetts General Hospital and Harvard Medical School, Charlestown, Massachusetts, USA</mods:affiliation></affiliation><affiliation><mods:affiliation>Department of Neurology, Ulm University, Ulm, Germany</mods:affiliation></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">ISTEX</idno><idno type="RBID">ISTEX:CB296A996A45921164E5BA2AA1DA1333805A3A6D</idno><date when="2007" year="2007">2007</date><idno type="doi">10.1002/mds.21550</idno><idno type="url">https://api.istex.fr/document/CB296A996A45921164E5BA2AA1DA1333805A3A6D/fulltext/pdf</idno><idno type="wicri:Area/Istex/Corpus">003238</idno></publicationStmt><sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">Myopathy as a first symptom of Huntington's disease in a Marathon runner</title><author><name sortKey="Kosinski, Christoph M" sort="Kosinski, Christoph M" uniqKey="Kosinski C" first="Christoph M." last="Kosinski">Christoph M. Kosinski</name><affiliation><mods:affiliation>Department of Neurology, University Hospital RWTH Aachen, Germany</mods:affiliation></affiliation></author><author><name sortKey="Schlangen, Christiane" sort="Schlangen, Christiane" uniqKey="Schlangen C" first="Christiane" last="Schlangen">Christiane Schlangen</name><affiliation><mods:affiliation>Department of Neurology, University Hospital RWTH Aachen, Germany</mods:affiliation></affiliation></author><author><name sortKey="Gellerich, Frank N" sort="Gellerich, Frank N" uniqKey="Gellerich F" first="Frank N." last="Gellerich">Frank N. Gellerich</name><affiliation><mods:affiliation>KeyNeurotek Pharmaceuticals AG, Magdeburg, Germany</mods:affiliation></affiliation></author><author><name sortKey="Gizatullina, Zemfira" sort="Gizatullina, Zemfira" uniqKey="Gizatullina Z" first="Zemfira" last="Gizatullina">Zemfira Gizatullina</name><affiliation><mods:affiliation>Department of Neurology, Martin‐Luther‐University, Halle, Germany</mods:affiliation></affiliation></author><author><name sortKey="Deschauer, Markus" sort="Deschauer, Markus" uniqKey="Deschauer M" first="Markus" last="Deschauer">Markus Deschauer</name><affiliation><mods:affiliation>Department of Neurology, Martin‐Luther‐University, Halle, Germany</mods:affiliation></affiliation></author><author><name sortKey="Schiefer, Johannes" sort="Schiefer, Johannes" uniqKey="Schiefer J" first="Johannes" last="Schiefer">Johannes Schiefer</name><affiliation><mods:affiliation>Department of Neurology, University Hospital RWTH Aachen, Germany</mods:affiliation></affiliation></author><author><name sortKey="Young, Anne B" sort="Young, Anne B" uniqKey="Young A" first="Anne B." last="Young">Anne B. Young</name><affiliation><mods:affiliation>MassGeneral Institute for Neurodegenerative Disease (MIND), Massachusetts General Hospital and Harvard Medical School, Charlestown, Massachusetts, USA</mods:affiliation></affiliation></author><author><name sortKey="Landwehrmeyer, Georg Bernhard" sort="Landwehrmeyer, Georg Bernhard" uniqKey="Landwehrmeyer G" first="Georg Bernhard" last="Landwehrmeyer">Georg Bernhard Landwehrmeyer</name><affiliation><mods:affiliation>Department of Neurology, Ulm University, Ulm, Germany</mods:affiliation></affiliation></author><author><name sortKey="Toyka, Klaus V" sort="Toyka, Klaus V" uniqKey="Toyka K" first="Klaus V." last="Toyka">Klaus V. Toyka</name><affiliation><mods:affiliation>Department of Neurology, Julius‐Maximilian‐University, Würzburg, Germany</mods:affiliation></affiliation></author><author><name sortKey="Sellhaus, Bernd" sort="Sellhaus, Bernd" uniqKey="Sellhaus B" first="Bernd" last="Sellhaus">Bernd Sellhaus</name><affiliation><mods:affiliation>Institute of Neuropathology, University Hospital RWTH Aachen, Germany</mods:affiliation></affiliation></author><author><name sortKey="Lindenberg, Katrin S" sort="Lindenberg, Katrin S" uniqKey="Lindenberg K" first="Katrin S." last="Lindenberg">Katrin S. Lindenberg</name><affiliation><mods:affiliation>MassGeneral Institute for Neurodegenerative Disease (MIND), Massachusetts General Hospital and Harvard Medical School, Charlestown, Massachusetts, USA</mods:affiliation></affiliation><affiliation><mods:affiliation>Department of Neurology, Ulm University, Ulm, Germany</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. 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="2007-08-15">2007-08-15</date><biblScope unit="vol">22</biblScope><biblScope unit="issue">11</biblScope><biblScope unit="page" from="1637">1637</biblScope><biblScope unit="page" to="1640">1640</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">CB296A996A45921164E5BA2AA1DA1333805A3A6D</idno><idno type="DOI">10.1002/mds.21550</idno><idno type="ArticleID">MDS21550</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>mitochondrial disease</term><term>neurodegenerative disease</term><term>oxidative stress</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">A semi professional marathon runner at risk for Huntington's disease (HD) (43 CAG repeats) developed signs of a slowly progressive myopathy with exercise‐induced muscle fatigue, pain, elevated creatine kinase level, and worsening of his running performance many years before first signs of chorea were detected. Muscle biopsy displayed a mild myopathy with mitochondrial pathology including a complex IV deficiency and analysis of the patient's fibroblast culture demonstrated deficits in mitochondrial function. Challenging skeletal muscle by excessive training might have disclosed myopathy in HD even years before the appearance of other neurological symptoms. © 2007 Movement Disorder Society</div></front></TEI><istex><corpusName>wiley</corpusName><author><json:item><name>Christoph M. Kosinski MD</name><affiliations><json:string>Department of Neurology, University Hospital RWTH Aachen, Germany</json:string></affiliations></json:item><json:item><name>Christiane Schlangen MD</name><affiliations><json:string>Department of Neurology, University Hospital RWTH Aachen, Germany</json:string></affiliations></json:item><json:item><name>Frank N. Gellerich MD</name><affiliations><json:string>KeyNeurotek Pharmaceuticals AG, Magdeburg, Germany</json:string></affiliations></json:item><json:item><name>Zemfira Gizatullina MD</name><affiliations><json:string>Department of Neurology, Martin‐Luther‐University, Halle, Germany</json:string></affiliations></json:item><json:item><name>Markus Deschauer MD</name><affiliations><json:string>Department of Neurology, Martin‐Luther‐University, Halle, Germany</json:string></affiliations></json:item><json:item><name>Johannes Schiefer MD</name><affiliations><json:string>Department of Neurology, University Hospital RWTH Aachen, Germany</json:string></affiliations></json:item><json:item><name>Anne B. Young MD, PhD</name><affiliations><json:string>MassGeneral Institute for Neurodegenerative Disease (MIND), Massachusetts General Hospital and Harvard Medical School, Charlestown, Massachusetts, USA</json:string></affiliations></json:item><json:item><name>Georg Bernhard Landwehrmeyer MD</name><affiliations><json:string>Department of Neurology, Ulm University, Ulm, Germany</json:string></affiliations></json:item><json:item><name>Klaus V. Toyka MD, FRCP</name><affiliations><json:string>Department of Neurology, Julius‐Maximilian‐University, Würzburg, Germany</json:string></affiliations></json:item><json:item><name>Bernd Sellhaus MD</name><affiliations><json:string>Institute of Neuropathology, University Hospital RWTH Aachen, Germany</json:string></affiliations></json:item><json:item><name>Katrin S. Lindenberg PhD</name><affiliations><json:string>MassGeneral Institute for Neurodegenerative Disease (MIND), Massachusetts General Hospital and Harvard Medical School, Charlestown, Massachusetts, USA</json:string><json:string>Department of Neurology, Ulm University, Ulm, Germany</json:string></affiliations></json:item></author><subject><json:item><lang><json:string>eng</json:string></lang><value>neurodegenerative disease</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>oxidative stress</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>mitochondrial disease</value></json:item></subject><language><json:string>eng</json:string></language><abstract>A semi professional marathon runner at risk for Huntington's disease (HD) (43 CAG repeats) developed signs of a slowly progressive myopathy with exercise‐induced muscle fatigue, pain, elevated creatine kinase level, and worsening of his running performance many years before first signs of chorea were detected. Muscle biopsy displayed a mild myopathy with mitochondrial pathology including a complex IV deficiency and analysis of the patient's fibroblast culture demonstrated deficits in mitochondrial function. Challenging skeletal muscle by excessive training might have disclosed myopathy in HD even years before the appearance of other neurological symptoms. © 2007 Movement Disorder Society</abstract><qualityIndicators><score>3.645</score><pdfVersion>1.3</pdfVersion><pdfPageSize>594 x 792 pts</pdfPageSize><refBibsNative>true</refBibsNative><abstractCharCount>696</abstractCharCount><pdfWordCount>2481</pdfWordCount><pdfCharCount>16695</pdfCharCount><pdfPageCount>4</pdfPageCount><abstractWordCount>97</abstractWordCount></qualityIndicators><title>Myopathy as a first symptom of Huntington's disease in a Marathon runner</title><genre><json:string>Serial article</json:string></genre><host><volume>22</volume><pages><total>4</total><last>1640</last><first>1637</first></pages><issn><json:string>0885-3185</json:string></issn><issue>11</issue><subject><json:item><value>Brief Report</value></json:item></subject><genre></genre><language><json:string>unknown</json:string></language><title>Movement Disorders</title><doi><json:string>10.1002/(ISSN)1531-8257</json:string></doi></host><publicationDate>2007</publicationDate><copyrightDate>2007</copyrightDate><doi><json:string>10.1002/mds.21550</json:string></doi><id>CB296A996A45921164E5BA2AA1DA1333805A3A6D</id><fulltext><json:item><original>true</original><mimetype>application/pdf</mimetype><extension>pdf</extension><uri>https://api.istex.fr/document/CB296A996A45921164E5BA2AA1DA1333805A3A6D/fulltext/pdf</uri></json:item><json:item><original>false</original><mimetype>application/zip</mimetype><extension>zip</extension><uri>https://api.istex.fr/document/CB296A996A45921164E5BA2AA1DA1333805A3A6D/fulltext/zip</uri></json:item><istex:fulltextTEI uri="https://api.istex.fr/document/CB296A996A45921164E5BA2AA1DA1333805A3A6D/fulltext/tei"><teiHeader type="text"><fileDesc><titleStmt><title level="a" type="main" xml:lang="en">Myopathy as a first symptom of Huntington's disease in a Marathon runner</title></titleStmt><publicationStmt><authority>ISTEX</authority><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><availability><p>Wiley Subscription Services, Inc., A Wiley Company</p></availability><date>2007</date></publicationStmt><sourceDesc><biblStruct type="inbook"><analytic><title level="a" type="main" xml:lang="en">Myopathy as a first symptom of Huntington's disease in a Marathon runner</title><author><persName><forename type="first">Christoph M.</forename><surname>Kosinski</surname><roleName type="degree">MD</roleName></persName><note type="correspondence"><p>Correspondence: Pauwelsstr 30, Aachen, 52074, Germany</p></note><affiliation>Department of Neurology, University Hospital RWTH Aachen, Germany</affiliation></author><author><persName><forename type="first">Christiane</forename><surname>Schlangen</surname><roleName type="degree">MD</roleName></persName><affiliation>Department of Neurology, University Hospital RWTH Aachen, Germany</affiliation></author><author><persName><forename type="first">Frank N.</forename><surname>Gellerich</surname><roleName type="degree">MD</roleName></persName><affiliation>KeyNeurotek Pharmaceuticals AG, Magdeburg, Germany</affiliation></author><author><persName><forename type="first">Zemfira</forename><surname>Gizatullina</surname><roleName type="degree">MD</roleName></persName><affiliation>Department of Neurology, Martin‐Luther‐University, Halle, Germany</affiliation></author><author><persName><forename type="first">Markus</forename><surname>Deschauer</surname><roleName type="degree">MD</roleName></persName><affiliation>Department of Neurology, Martin‐Luther‐University, Halle, Germany</affiliation></author><author><persName><forename type="first">Johannes</forename><surname>Schiefer</surname><roleName type="degree">MD</roleName></persName><affiliation>Department of Neurology, University Hospital RWTH Aachen, Germany</affiliation></author><author><persName><forename type="first">Anne B.</forename><surname>Young</surname><roleName type="degree">MD, PhD</roleName></persName><affiliation>MassGeneral Institute for Neurodegenerative Disease (MIND), Massachusetts General Hospital and Harvard Medical School, Charlestown, Massachusetts, USA</affiliation></author><author><persName><forename type="first">Georg Bernhard</forename><surname>Landwehrmeyer</surname><roleName type="degree">MD</roleName></persName><affiliation>Department of Neurology, Ulm University, Ulm, Germany</affiliation></author><author><persName><forename type="first">Klaus V.</forename><surname>Toyka</surname><roleName type="degree">MD, FRCP</roleName></persName><affiliation>Department of Neurology, Julius‐Maximilian‐University, Würzburg, Germany</affiliation></author><author><persName><forename type="first">Bernd</forename><surname>Sellhaus</surname><roleName type="degree">MD</roleName></persName><affiliation>Institute of Neuropathology, University Hospital RWTH Aachen, Germany</affiliation></author><author><persName><forename type="first">Katrin S.</forename><surname>Lindenberg</surname><roleName type="degree">PhD</roleName></persName><affiliation>MassGeneral Institute for Neurodegenerative Disease (MIND), Massachusetts General Hospital and Harvard Medical School, Charlestown, Massachusetts, USA</affiliation><affiliation>Department of Neurology, Ulm University, Ulm, Germany</affiliation></author></analytic><monogr><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="pISSN">0885-3185</idno><idno type="eISSN">1531-8257</idno><idno type="DOI">10.1002/(ISSN)1531-8257</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2007-08-15"></date><biblScope unit="vol">22</biblScope><biblScope unit="issue">11</biblScope><biblScope unit="page" from="1637">1637</biblScope><biblScope unit="page" to="1640">1640</biblScope></imprint></monogr><idno type="istex">CB296A996A45921164E5BA2AA1DA1333805A3A6D</idno><idno type="DOI">10.1002/mds.21550</idno><idno type="ArticleID">MDS21550</idno></biblStruct></sourceDesc></fileDesc><profileDesc><creation><date>2007</date></creation><langUsage><language ident="en">en</language></langUsage><abstract xml:lang="en"><p>A semi professional marathon runner at risk for Huntington's disease (HD) (43 CAG repeats) developed signs of a slowly progressive myopathy with exercise‐induced muscle fatigue, pain, elevated creatine kinase level, and worsening of his running performance many years before first signs of chorea were detected. Muscle biopsy displayed a mild myopathy with mitochondrial pathology including a complex IV deficiency and analysis of the patient's fibroblast culture demonstrated deficits in mitochondrial function. Challenging skeletal muscle by excessive training might have disclosed myopathy in HD even years before the appearance of other neurological symptoms. © 2007 Movement Disorder Society</p></abstract><textClass xml:lang="en"><keywords scheme="keyword"><list><head>Keywords</head><item><term>neurodegenerative disease</term></item><item><term>oxidative stress</term></item><item><term>mitochondrial disease</term></item></list></keywords></textClass><textClass><keywords scheme="Journal Subject"><list><head>Article category</head><item><term>Brief Report</term></item></list></keywords></textClass></profileDesc><revisionDesc><change when="2007-02-05">Received</change><change when="2007-04-03">Registration</change><change when="2007-08-15">Published</change></revisionDesc></teiHeader></istex:fulltextTEI><json:item><original>false</original><mimetype>text/plain</mimetype><extension>txt</extension><uri>https://api.istex.fr/document/CB296A996A45921164E5BA2AA1DA1333805A3A6D/fulltext/txt</uri></json:item></fulltext><metadata><istex:metadataXml wicri:clean="Wiley, elements deleted: body"><istex:xmlDeclaration>version="1.0" encoding="UTF-8" standalone="yes"</istex:xmlDeclaration><istex:document><component version="2.0" type="serialArticle" xml:lang="en"><header><publicationMeta level="product"><publisherInfo><publisherName>Wiley Subscription Services, Inc., A Wiley Company</publisherName><publisherLoc>Hoboken</publisherLoc></publisherInfo><doi registered="yes">10.1002/(ISSN)1531-8257</doi><issn type="print">0885-3185</issn><issn type="electronic">1531-8257</issn><idGroup><id type="product" value="MDS"></id></idGroup><titleGroup><title type="main" xml:lang="en" sort="MOVEMENT DISORDERS">Movement Disorders</title><title type="subtitle">Official Journal of the Movement Disorder Society</title><title type="short">Mov. Disord.</title></titleGroup></publicationMeta><publicationMeta level="part" position="110"><doi origin="wiley" registered="yes">10.1002/mds.v22:11</doi><numberingGroup><numbering type="journalVolume" number="22">22</numbering><numbering type="journalIssue">11</numbering></numberingGroup><coverDate startDate="2007-08-15">15 August 2007</coverDate></publicationMeta><publicationMeta level="unit" type="article" position="190" status="forIssue"><doi origin="wiley" registered="yes">10.1002/mds.21550</doi><idGroup><id type="unit" value="MDS21550"></id></idGroup><countGroup><count type="pageTotal" number="4"></count></countGroup><titleGroup><title type="articleCategory">Brief Report</title><title type="tocHeading1">Brief Reports</title></titleGroup><copyright ownership="thirdParty">Copyright © 2007 Movement Disorder Society</copyright><eventGroup><event type="manuscriptReceived" date="2007-02-05"></event><event type="manuscriptRevised" date="2007-04-02"></event><event type="manuscriptAccepted" date="2007-04-03"></event><event type="publishedOnlineEarlyUnpaginated" date="2007-05-29"></event><event type="firstOnline" date="2007-05-29"></event><event type="publishedOnlineFinalForm" date="2007-08-29"></event><event type="xmlConverted" agent="Converter:JWSART34_TO_WML3G version:2.3.2 mode:FullText source:FullText result:FullText" date="2010-03-09"></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">1637</numbering><numbering type="pageLast">1640</numbering></numberingGroup><correspondenceTo>Pauwelsstr 30, Aachen, 52074, Germany</correspondenceTo><linkGroup><link type="toTypesetVersion" href="file:MDS.MDS21550.pdf"></link></linkGroup></publicationMeta><contentMeta><countGroup><count type="figureTotal" number="3"></count><count type="tableTotal" number="0"></count><count type="referenceTotal" number="15"></count><count type="wordTotal" number="2368"></count></countGroup><titleGroup><title type="main" xml:lang="en">Myopathy as a first symptom of Huntington's disease in a Marathon runner</title><title type="short" xml:lang="en">Myopathy in Huntington'S Disease</title></titleGroup><creators><creator xml:id="au1" creatorRole="author" affiliationRef="#af1" corresponding="yes"><personName><givenNames>Christoph M.</givenNames><familyName>Kosinski</familyName><degrees>MD</degrees></personName><contactDetails><email>ckosinski@ukaachen.de</email></contactDetails></creator><creator xml:id="au2" creatorRole="author" affiliationRef="#af1"><personName><givenNames>Christiane</givenNames><familyName>Schlangen</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au3" creatorRole="author" affiliationRef="#af2"><personName><givenNames>Frank N.</givenNames><familyName>Gellerich</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au4" creatorRole="author" affiliationRef="#af3"><personName><givenNames>Zemfira</givenNames><familyName>Gizatullina</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au5" creatorRole="author" affiliationRef="#af3"><personName><givenNames>Markus</givenNames><familyName>Deschauer</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au6" creatorRole="author" affiliationRef="#af1"><personName><givenNames>Johannes</givenNames><familyName>Schiefer</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au7" creatorRole="author" affiliationRef="#af4"><personName><givenNames>Anne B.</givenNames><familyName>Young</familyName><degrees>MD, PhD</degrees></personName></creator><creator xml:id="au8" creatorRole="author" affiliationRef="#af5"><personName><givenNames>Georg Bernhard</givenNames><familyName>Landwehrmeyer</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au9" creatorRole="author" affiliationRef="#af6"><personName><givenNames>Klaus V.</givenNames><familyName>Toyka</familyName><degrees>MD, FRCP</degrees></personName></creator><creator xml:id="au10" creatorRole="author" affiliationRef="#af7"><personName><givenNames>Bernd</givenNames><familyName>Sellhaus</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au11" creatorRole="author" affiliationRef="#af4 #af5"><personName><givenNames>Katrin S.</givenNames><familyName>Lindenberg</familyName><degrees>PhD</degrees></personName></creator></creators><affiliationGroup><affiliation xml:id="af1" countryCode="DE" type="organization"><unparsedAffiliation>Department of Neurology, University Hospital RWTH Aachen, Germany</unparsedAffiliation></affiliation><affiliation xml:id="af2" countryCode="DE" type="organization"><unparsedAffiliation>KeyNeurotek Pharmaceuticals AG, Magdeburg, Germany</unparsedAffiliation></affiliation><affiliation xml:id="af3" countryCode="DE" type="organization"><unparsedAffiliation>Department of Neurology, Martin‐Luther‐University, Halle, Germany</unparsedAffiliation></affiliation><affiliation xml:id="af4" countryCode="US" type="organization"><unparsedAffiliation>MassGeneral Institute for Neurodegenerative Disease (MIND), Massachusetts General Hospital and Harvard Medical School, Charlestown, Massachusetts, USA</unparsedAffiliation></affiliation><affiliation xml:id="af5" countryCode="DE" type="organization"><unparsedAffiliation>Department of Neurology, Ulm University, Ulm, Germany</unparsedAffiliation></affiliation><affiliation xml:id="af6" countryCode="DE" type="organization"><unparsedAffiliation>Department of Neurology, Julius‐Maximilian‐University, Würzburg, Germany</unparsedAffiliation></affiliation><affiliation xml:id="af7" countryCode="DE" type="organization"><unparsedAffiliation>Institute of Neuropathology, University Hospital RWTH Aachen, Germany</unparsedAffiliation></affiliation></affiliationGroup><keywordGroup xml:lang="en" type="author"><keyword xml:id="kwd1">neurodegenerative disease</keyword><keyword xml:id="kwd2">oxidative stress</keyword><keyword xml:id="kwd3">mitochondrial disease</keyword></keywordGroup><abstractGroup><abstract type="main" xml:lang="en"><title type="main">Abstract</title><p>A semi professional marathon runner at risk for Huntington's disease (HD) (43 CAG repeats) developed signs of a slowly progressive myopathy with exercise‐induced muscle fatigue, pain, elevated creatine kinase level, and worsening of his running performance many years before first signs of chorea were detected. Muscle biopsy displayed a mild myopathy with mitochondrial pathology including a complex IV deficiency and analysis of the patient's fibroblast culture demonstrated deficits in mitochondrial function. Challenging skeletal muscle by excessive training might have disclosed myopathy in HD even years before the appearance of other neurological symptoms. © 2007 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>Myopathy as a first symptom of Huntington's disease in a Marathon runner</title></titleInfo><titleInfo type="abbreviated" lang="en"><title>Myopathy in Huntington'S Disease</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>Myopathy as a first symptom of Huntington's disease in a Marathon runner</title></titleInfo><name type="personal"><namePart type="given">Christoph M.</namePart><namePart type="family">Kosinski</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neurology, University Hospital RWTH Aachen, Germany</affiliation><description>Correspondence: Pauwelsstr 30, Aachen, 52074, Germany</description><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Christiane</namePart><namePart type="family">Schlangen</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neurology, University Hospital RWTH Aachen, Germany</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Frank N.</namePart><namePart type="family">Gellerich</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>KeyNeurotek Pharmaceuticals AG, Magdeburg, Germany</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Zemfira</namePart><namePart type="family">Gizatullina</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neurology, Martin‐Luther‐University, Halle, Germany</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Markus</namePart><namePart type="family">Deschauer</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neurology, Martin‐Luther‐University, Halle, Germany</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Johannes</namePart><namePart type="family">Schiefer</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neurology, University Hospital RWTH Aachen, Germany</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Anne B.</namePart><namePart type="family">Young</namePart><namePart type="termsOfAddress">MD, PhD</namePart><affiliation>MassGeneral Institute for Neurodegenerative Disease (MIND), Massachusetts General Hospital and Harvard Medical School, Charlestown, Massachusetts, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Georg Bernhard</namePart><namePart type="family">Landwehrmeyer</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neurology, Ulm University, Ulm, Germany</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Klaus V.</namePart><namePart type="family">Toyka</namePart><namePart type="termsOfAddress">MD, FRCP</namePart><affiliation>Department of Neurology, Julius‐Maximilian‐University, Würzburg, Germany</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Bernd</namePart><namePart type="family">Sellhaus</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Institute of Neuropathology, University Hospital RWTH Aachen, Germany</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Katrin S.</namePart><namePart type="family">Lindenberg</namePart><namePart type="termsOfAddress">PhD</namePart><affiliation>MassGeneral Institute for Neurodegenerative Disease (MIND), Massachusetts General Hospital and Harvard Medical School, Charlestown, Massachusetts, USA</affiliation><affiliation>Department of Neurology, Ulm University, Ulm, Germany</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">2007-08-15</dateIssued><dateCaptured encoding="w3cdtf">2007-02-05</dateCaptured><dateValid encoding="w3cdtf">2007-04-03</dateValid><copyrightDate encoding="w3cdtf">2007</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">3</extent><extent unit="references">15</extent><extent unit="words">2368</extent></physicalDescription><abstract lang="en">A semi professional marathon runner at risk for Huntington's disease (HD) (43 CAG repeats) developed signs of a slowly progressive myopathy with exercise‐induced muscle fatigue, pain, elevated creatine kinase level, and worsening of his running performance many years before first signs of chorea were detected. Muscle biopsy displayed a mild myopathy with mitochondrial pathology including a complex IV deficiency and analysis of the patient's fibroblast culture demonstrated deficits in mitochondrial function. Challenging skeletal muscle by excessive training might have disclosed myopathy in HD even years before the appearance of other neurological symptoms. © 2007 Movement Disorder Society</abstract><subject lang="en"><genre>Keywords</genre><topic>neurodegenerative disease</topic><topic>oxidative stress</topic><topic>mitochondrial disease</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><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>2007</date><detail type="volume"><caption>vol.</caption><number>22</number></detail><detail type="issue"><caption>no.</caption><number>11</number></detail><extent unit="pages"><start>1637</start><end>1640</end><total>4</total></extent></part></relatedItem><identifier type="istex">CB296A996A45921164E5BA2AA1DA1333805A3A6D</identifier><identifier type="DOI">10.1002/mds.21550</identifier><identifier type="ArticleID">MDS21550</identifier><accessCondition type="use and reproduction" contentType="copyright">Copyright © 2007 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)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Santé/explor/MovDisordV3/Data/Istex/Corpus
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 003238 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Istex/Corpus/biblio.hfd -nk 003238 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien
|wiki= Wicri/Santé
|area= MovDisordV3
|flux= Istex
|étape= Corpus
|type= RBID
|clé= ISTEX:CB296A996A45921164E5BA2AA1DA1333805A3A6D
|texte= Myopathy as a first symptom of Huntington's disease in a Marathon runner
}}
| This area was generated with Dilib version V0.6.23. |  |