Myopathy as a first symptom of Huntington's disease in a Marathon runner.
Identifieur interne : 002699 ( PubMed/Checkpoint ); précédent : 002698; suivant : 002700Myopathy as a first symptom of Huntington's disease in a Marathon runner.
Auteurs : Christoph M. Kosinski [Allemagne] ; 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 : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2007.
English descriptors
- KwdEn :
- Adult, Disease Progression, Humans, Huntington Disease (complications), Huntington Disease (genetics), Male, Mitochondria, Muscle (pathology), Muscle, Skeletal (pathology), Muscular Diseases (etiology), Muscular Diseases (genetics), Muscular Diseases (pathology), Mutation, Oxygen Consumption (physiology), Proton Pumps (genetics), Running.
- MESH :
- chemical , genetics : Proton Pumps.
- complications : Huntington Disease.
- etiology : Muscular Diseases.
- genetics : Huntington Disease, Muscular Diseases.
- pathology : Mitochondria, Muscle, Muscle, Skeletal, Muscular Diseases.
- physiology : Oxygen Consumption.
- Adult, Disease Progression, Humans, Male, Mutation, Running.
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.
DOI: 10.1002/mds.21550
PubMed: 17534945
Affiliations:
Links toward previous steps (curation, corpus...)
Links to Exploration step
pubmed:17534945Le document en format XML
<record><TEI><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 wicri:level="1"><nlm:affiliation>Department of Neurology, University Hospital RWTH Aachen, Germany. ckosinski@ukaachen.de</nlm:affiliation>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Department of Neurology, University Hospital RWTH Aachen</wicri:regionArea>
<wicri:noRegion>University Hospital RWTH Aachen</wicri:noRegion>
<wicri:noRegion>University Hospital RWTH Aachen</wicri:noRegion>
<wicri:noRegion>University Hospital RWTH Aachen</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Schlangen, Christiane" sort="Schlangen, Christiane" uniqKey="Schlangen C" first="Christiane" last="Schlangen">Christiane Schlangen</name>
</author>
<author><name sortKey="Gellerich, Frank N" sort="Gellerich, Frank N" uniqKey="Gellerich F" first="Frank N" last="Gellerich">Frank N. Gellerich</name>
</author>
<author><name sortKey="Gizatullina, Zemfira" sort="Gizatullina, Zemfira" uniqKey="Gizatullina Z" first="Zemfira" last="Gizatullina">Zemfira Gizatullina</name>
</author>
<author><name sortKey="Deschauer, Markus" sort="Deschauer, Markus" uniqKey="Deschauer M" first="Markus" last="Deschauer">Markus Deschauer</name>
</author>
<author><name sortKey="Schiefer, Johannes" sort="Schiefer, Johannes" uniqKey="Schiefer J" first="Johannes" last="Schiefer">Johannes Schiefer</name>
</author>
<author><name sortKey="Young, Anne B" sort="Young, Anne B" uniqKey="Young A" first="Anne B" last="Young">Anne B. Young</name>
</author>
<author><name sortKey="Landwehrmeyer, Georg Bernhard" sort="Landwehrmeyer, Georg Bernhard" uniqKey="Landwehrmeyer G" first="Georg Bernhard" last="Landwehrmeyer">Georg Bernhard Landwehrmeyer</name>
</author>
<author><name sortKey="Toyka, Klaus V" sort="Toyka, Klaus V" uniqKey="Toyka K" first="Klaus V" last="Toyka">Klaus V. Toyka</name>
</author>
<author><name sortKey="Sellhaus, Bernd" sort="Sellhaus, Bernd" uniqKey="Sellhaus B" first="Bernd" last="Sellhaus">Bernd Sellhaus</name>
</author>
<author><name sortKey="Lindenberg, Katrin S" sort="Lindenberg, Katrin S" uniqKey="Lindenberg K" first="Katrin S" last="Lindenberg">Katrin S. Lindenberg</name>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">PubMed</idno>
<date when="2007">2007</date>
<idno type="doi">10.1002/mds.21550</idno>
<idno type="RBID">pubmed:17534945</idno>
<idno type="pmid">17534945</idno>
<idno type="wicri:Area/PubMed/Corpus">002682</idno>
<idno type="wicri:Area/PubMed/Curation">002682</idno>
<idno type="wicri:Area/PubMed/Checkpoint">002699</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><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 wicri:level="1"><nlm:affiliation>Department of Neurology, University Hospital RWTH Aachen, Germany. ckosinski@ukaachen.de</nlm:affiliation>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Department of Neurology, University Hospital RWTH Aachen</wicri:regionArea>
<wicri:noRegion>University Hospital RWTH Aachen</wicri:noRegion>
<wicri:noRegion>University Hospital RWTH Aachen</wicri:noRegion>
<wicri:noRegion>University Hospital RWTH Aachen</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Schlangen, Christiane" sort="Schlangen, Christiane" uniqKey="Schlangen C" first="Christiane" last="Schlangen">Christiane Schlangen</name>
</author>
<author><name sortKey="Gellerich, Frank N" sort="Gellerich, Frank N" uniqKey="Gellerich F" first="Frank N" last="Gellerich">Frank N. Gellerich</name>
</author>
<author><name sortKey="Gizatullina, Zemfira" sort="Gizatullina, Zemfira" uniqKey="Gizatullina Z" first="Zemfira" last="Gizatullina">Zemfira Gizatullina</name>
</author>
<author><name sortKey="Deschauer, Markus" sort="Deschauer, Markus" uniqKey="Deschauer M" first="Markus" last="Deschauer">Markus Deschauer</name>
</author>
<author><name sortKey="Schiefer, Johannes" sort="Schiefer, Johannes" uniqKey="Schiefer J" first="Johannes" last="Schiefer">Johannes Schiefer</name>
</author>
<author><name sortKey="Young, Anne B" sort="Young, Anne B" uniqKey="Young A" first="Anne B" last="Young">Anne B. Young</name>
</author>
<author><name sortKey="Landwehrmeyer, Georg Bernhard" sort="Landwehrmeyer, Georg Bernhard" uniqKey="Landwehrmeyer G" first="Georg Bernhard" last="Landwehrmeyer">Georg Bernhard Landwehrmeyer</name>
</author>
<author><name sortKey="Toyka, Klaus V" sort="Toyka, Klaus V" uniqKey="Toyka K" first="Klaus V" last="Toyka">Klaus V. Toyka</name>
</author>
<author><name sortKey="Sellhaus, Bernd" sort="Sellhaus, Bernd" uniqKey="Sellhaus B" first="Bernd" last="Sellhaus">Bernd Sellhaus</name>
</author>
<author><name sortKey="Lindenberg, Katrin S" sort="Lindenberg, Katrin S" uniqKey="Lindenberg K" first="Katrin S" last="Lindenberg">Katrin S. Lindenberg</name>
</author>
</analytic>
<series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title>
<idno type="ISSN">0885-3185</idno>
<imprint><date when="2007" type="published">2007</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term>
<term>Disease Progression</term>
<term>Humans</term>
<term>Huntington Disease (complications)</term>
<term>Huntington Disease (genetics)</term>
<term>Male</term>
<term>Mitochondria, Muscle (pathology)</term>
<term>Muscle, Skeletal (pathology)</term>
<term>Muscular Diseases (etiology)</term>
<term>Muscular Diseases (genetics)</term>
<term>Muscular Diseases (pathology)</term>
<term>Mutation</term>
<term>Oxygen Consumption (physiology)</term>
<term>Proton Pumps (genetics)</term>
<term>Running</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Proton Pumps</term>
</keywords>
<keywords scheme="MESH" qualifier="complications" xml:lang="en"><term>Huntington Disease</term>
</keywords>
<keywords scheme="MESH" qualifier="etiology" xml:lang="en"><term>Muscular Diseases</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Huntington Disease</term>
<term>Muscular Diseases</term>
</keywords>
<keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Mitochondria, Muscle</term>
<term>Muscle, Skeletal</term>
<term>Muscular Diseases</term>
</keywords>
<keywords scheme="MESH" qualifier="physiology" xml:lang="en"><term>Oxygen Consumption</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Adult</term>
<term>Disease Progression</term>
<term>Humans</term>
<term>Male</term>
<term>Mutation</term>
<term>Running</term>
</keywords>
</textClass>
</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.</div>
</front>
</TEI>
<pubmed><MedlineCitation Owner="NLM" Status="MEDLINE"><PMID Version="1">17534945</PMID>
<DateCreated><Year>2007</Year>
<Month>09</Month>
<Day>05</Day>
</DateCreated>
<DateCompleted><Year>2007</Year>
<Month>11</Month>
<Day>28</Day>
</DateCompleted>
<Article PubModel="Print"><Journal><ISSN IssnType="Print">0885-3185</ISSN>
<JournalIssue CitedMedium="Print"><Volume>22</Volume>
<Issue>11</Issue>
<PubDate><Year>2007</Year>
<Month>Aug</Month>
<Day>15</Day>
</PubDate>
</JournalIssue>
<Title>Movement disorders : official journal of the Movement Disorder Society</Title>
<ISOAbbreviation>Mov. Disord.</ISOAbbreviation>
</Journal>
<ArticleTitle>Myopathy as a first symptom of Huntington's disease in a Marathon runner.</ArticleTitle>
<Pagination><MedlinePgn>1637-40</MedlinePgn>
</Pagination>
<Abstract><AbstractText>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.</AbstractText>
<CopyrightInformation>Copyright (c) 2007 Movement Disorder Society.</CopyrightInformation>
</Abstract>
<AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Kosinski</LastName>
<ForeName>Christoph M</ForeName>
<Initials>CM</Initials>
<AffiliationInfo><Affiliation>Department of Neurology, University Hospital RWTH Aachen, Germany. ckosinski@ukaachen.de</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Schlangen</LastName>
<ForeName>Christiane</ForeName>
<Initials>C</Initials>
</Author>
<Author ValidYN="Y"><LastName>Gellerich</LastName>
<ForeName>Frank N</ForeName>
<Initials>FN</Initials>
</Author>
<Author ValidYN="Y"><LastName>Gizatullina</LastName>
<ForeName>Zemfira</ForeName>
<Initials>Z</Initials>
</Author>
<Author ValidYN="Y"><LastName>Deschauer</LastName>
<ForeName>Markus</ForeName>
<Initials>M</Initials>
</Author>
<Author ValidYN="Y"><LastName>Schiefer</LastName>
<ForeName>Johannes</ForeName>
<Initials>J</Initials>
</Author>
<Author ValidYN="Y"><LastName>Young</LastName>
<ForeName>Anne B</ForeName>
<Initials>AB</Initials>
</Author>
<Author ValidYN="Y"><LastName>Landwehrmeyer</LastName>
<ForeName>Georg Bernhard</ForeName>
<Initials>GB</Initials>
</Author>
<Author ValidYN="Y"><LastName>Toyka</LastName>
<ForeName>Klaus V</ForeName>
<Initials>KV</Initials>
</Author>
<Author ValidYN="Y"><LastName>Sellhaus</LastName>
<ForeName>Bernd</ForeName>
<Initials>B</Initials>
</Author>
<Author ValidYN="Y"><LastName>Lindenberg</LastName>
<ForeName>Katrin S</ForeName>
<Initials>KS</Initials>
</Author>
</AuthorList>
<Language>eng</Language>
<PublicationTypeList><PublicationType UI="D002363">Case Reports</PublicationType>
<PublicationType UI="D016428">Journal Article</PublicationType>
</PublicationTypeList>
</Article>
<MedlineJournalInfo><Country>United States</Country>
<MedlineTA>Mov Disord</MedlineTA>
<NlmUniqueID>8610688</NlmUniqueID>
<ISSNLinking>0885-3185</ISSNLinking>
</MedlineJournalInfo>
<ChemicalList><Chemical><RegistryNumber>0</RegistryNumber>
<NameOfSubstance UI="D017494">Proton Pumps</NameOfSubstance>
</Chemical>
</ChemicalList>
<CitationSubset>IM</CitationSubset>
<MeshHeadingList><MeshHeading><DescriptorName MajorTopicYN="N" UI="D000328">Adult</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D018450">Disease Progression</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D006801">Humans</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D006816">Huntington Disease</DescriptorName>
<QualifierName MajorTopicYN="Y" UI="Q000150">complications</QualifierName>
<QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D008297">Male</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D008931">Mitochondria, Muscle</DescriptorName>
<QualifierName MajorTopicYN="N" UI="Q000473">pathology</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D018482">Muscle, Skeletal</DescriptorName>
<QualifierName MajorTopicYN="N" UI="Q000473">pathology</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D009135">Muscular Diseases</DescriptorName>
<QualifierName MajorTopicYN="Y" UI="Q000209">etiology</QualifierName>
<QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName>
<QualifierName MajorTopicYN="N" UI="Q000473">pathology</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D009154">Mutation</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D010101">Oxygen Consumption</DescriptorName>
<QualifierName MajorTopicYN="N" UI="Q000502">physiology</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D017494">Proton Pumps</DescriptorName>
<QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D012420">Running</DescriptorName>
</MeshHeading>
</MeshHeadingList>
</MedlineCitation>
<PubmedData><History><PubMedPubDate PubStatus="pubmed"><Year>2007</Year>
<Month>5</Month>
<Day>31</Day>
<Hour>9</Hour>
<Minute>0</Minute>
</PubMedPubDate>
<PubMedPubDate PubStatus="medline"><Year>2007</Year>
<Month>12</Month>
<Day>6</Day>
<Hour>9</Hour>
<Minute>0</Minute>
</PubMedPubDate>
<PubMedPubDate PubStatus="entrez"><Year>2007</Year>
<Month>5</Month>
<Day>31</Day>
<Hour>9</Hour>
<Minute>0</Minute>
</PubMedPubDate>
</History>
<PublicationStatus>ppublish</PublicationStatus>
<ArticleIdList><ArticleId IdType="doi">10.1002/mds.21550</ArticleId>
<ArticleId IdType="pubmed">17534945</ArticleId>
</ArticleIdList>
</PubmedData>
</pubmed>
<affiliations><list><country><li>Allemagne</li>
</country>
</list>
<tree><noCountry><name sortKey="Deschauer, Markus" sort="Deschauer, Markus" uniqKey="Deschauer M" first="Markus" last="Deschauer">Markus Deschauer</name>
<name sortKey="Gellerich, Frank N" sort="Gellerich, Frank N" uniqKey="Gellerich F" first="Frank N" last="Gellerich">Frank N. Gellerich</name>
<name sortKey="Gizatullina, Zemfira" sort="Gizatullina, Zemfira" uniqKey="Gizatullina Z" first="Zemfira" last="Gizatullina">Zemfira Gizatullina</name>
<name sortKey="Landwehrmeyer, Georg Bernhard" sort="Landwehrmeyer, Georg Bernhard" uniqKey="Landwehrmeyer G" first="Georg Bernhard" last="Landwehrmeyer">Georg Bernhard Landwehrmeyer</name>
<name sortKey="Lindenberg, Katrin S" sort="Lindenberg, Katrin S" uniqKey="Lindenberg K" first="Katrin S" last="Lindenberg">Katrin S. Lindenberg</name>
<name sortKey="Schiefer, Johannes" sort="Schiefer, Johannes" uniqKey="Schiefer J" first="Johannes" last="Schiefer">Johannes Schiefer</name>
<name sortKey="Schlangen, Christiane" sort="Schlangen, Christiane" uniqKey="Schlangen C" first="Christiane" last="Schlangen">Christiane Schlangen</name>
<name sortKey="Sellhaus, Bernd" sort="Sellhaus, Bernd" uniqKey="Sellhaus B" first="Bernd" last="Sellhaus">Bernd Sellhaus</name>
<name sortKey="Toyka, Klaus V" sort="Toyka, Klaus V" uniqKey="Toyka K" first="Klaus V" last="Toyka">Klaus V. Toyka</name>
<name sortKey="Young, Anne B" sort="Young, Anne B" uniqKey="Young A" first="Anne B" last="Young">Anne B. Young</name>
</noCountry>
<country name="Allemagne"><noRegion><name sortKey="Kosinski, Christoph M" sort="Kosinski, Christoph M" uniqKey="Kosinski C" first="Christoph M" last="Kosinski">Christoph M. Kosinski</name>
</noRegion>
</country>
</tree>
</affiliations>
</record>
Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Santé/explor/MovDisordV3/Data/PubMed/Checkpoint
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 002699 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/PubMed/Checkpoint/biblio.hfd -nk 002699 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien |wiki= Wicri/Santé |area= MovDisordV3 |flux= PubMed |étape= Checkpoint |type= RBID |clé= pubmed:17534945 |texte= Myopathy as a first symptom of Huntington's disease in a Marathon runner. }}
Pour générer des pages wiki
HfdIndexSelect -h $EXPLOR_AREA/Data/PubMed/Checkpoint/RBID.i -Sk "pubmed:17534945" \ | HfdSelect -Kh $EXPLOR_AREA/Data/PubMed/Checkpoint/biblio.hfd \ | NlmPubMed2Wicri -a MovDisordV3
![]() | This area was generated with Dilib version V0.6.23. | ![]() |