MovDisordV3, Main, Merge, bibRecord, 004163

Myopathy as a first symptom of huntington's disease in a marathon runner

Identifieur interne : 004163 ( Main/Merge ); précédent : 004162; suivant : 004164

Myopathy as a first symptom of huntington's disease in a marathon runner

Auteurs : Christoph M. Kosinski [Allemagne] ; Christiane Schlangen [Allemagne] ; Frank N. Gellerich [Allemagne] ; Zemfira Gizatullina [Allemagne] ; Markus Deschauer [Allemagne] ; Johannes Schiefer [Allemagne] ; Anne B. Young [États-Unis] ; Georg Bernhard Landwehrmeyer [Allemagne] ; Klaus V. Toyka [Allemagne] ; Bernd Sellhaus [Allemagne] ; Katrin S. Lindenberg [États-Unis, Allemagne]

Source :

Movement disorders [ 0885-3185 ] ; 2007.

RBID : Pascal:07-0448802

Descripteurs français

Pascal (Inist)
- Système nerveux pathologie, Myopathie, Chorée Huntington, Cytopathie mitochondriale, Stress oxydatif.

English descriptors

KwdEn :
- Huntington disease, Mitochondrial disorder, Myopathy, Nervous system diseases, Oxidative stress.

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.

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to stream PascalFrancis, to step Curation: 001763
to stream PascalFrancis, to step Checkpoint: 001573

Links to Exploration step

Pascal:07-0448802

Le document en format XML

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<author><name sortKey="Young, Anne B" sort="Young, Anne B" uniqKey="Young A" first="Anne B." last="Young">Anne B. Young</name>
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<author><name sortKey="Bernhard Landwehrmeyer, Georg" sort="Bernhard Landwehrmeyer, Georg" uniqKey="Bernhard Landwehrmeyer G" first="Georg" last="Bernhard Landwehrmeyer">Georg Bernhard Landwehrmeyer</name>
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<region type="district" nuts="2">District de Tübingen</region>
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<author><name sortKey="Toyka, Klaus V" sort="Toyka, Klaus V" uniqKey="Toyka K" first="Klaus V." last="Toyka">Klaus V. Toyka</name>
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<s2>Charlestown, Massachusetts</s2>
<s3>USA</s3>
<sZ>7 aut.</sZ>
<sZ>11 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<placeName><region type="state">Massachusetts</region>
</placeName>
</affiliation>
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<s3>DEU</s3>
<sZ>8 aut.</sZ>
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</inist:fA14>
<country>Allemagne</country>
<placeName><region type="land" nuts="1">Bade-Wurtemberg</region>
<region type="district" nuts="2">District de Tübingen</region>
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">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="3"><inist:fA14 i1="01"><s1>Department of Neurology, University Hospital RWTH</s1>
<s2>Aachen</s2>
<s3>DEU</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>6 aut.</sZ>
</inist:fA14>
<country>Allemagne</country>
<placeName><region type="land" nuts="1">Rhénanie-du-Nord-Westphalie</region>
<region type="district" nuts="2">District de Cologne</region>
<settlement type="city">Aix-la-Chapelle</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Schlangen, Christiane" sort="Schlangen, Christiane" uniqKey="Schlangen C" first="Christiane" last="Schlangen">Christiane Schlangen</name>
<affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Department of Neurology, University Hospital RWTH</s1>
<s2>Aachen</s2>
<s3>DEU</s3>
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<sZ>2 aut.</sZ>
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<region type="district" nuts="2">District de Cologne</region>
<settlement type="city">Aix-la-Chapelle</settlement>
</placeName>
</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 wicri:level="3"><inist:fA14 i1="02"><s1>KeyNeurotek Pharmaceuticals AG</s1>
<s2>Magdeburg</s2>
<s3>DEU</s3>
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</inist:fA14>
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</placeName>
</affiliation>
</author>
<author><name sortKey="Gizatullina, Zemfira" sort="Gizatullina, Zemfira" uniqKey="Gizatullina Z" first="Zemfira" last="Gizatullina">Zemfira Gizatullina</name>
<affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Department of Neurology, Martin-Luther-University</s1>
<s2>Halle</s2>
<s3>DEU</s3>
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</affiliation>
</author>
<author><name sortKey="Deschauer, Markus" sort="Deschauer, Markus" uniqKey="Deschauer M" first="Markus" last="Deschauer">Markus Deschauer</name>
<affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Department of Neurology, Martin-Luther-University</s1>
<s2>Halle</s2>
<s3>DEU</s3>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
</inist:fA14>
<country>Allemagne</country>
<wicri:noRegion>Halle</wicri:noRegion>
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<wicri:noRegion>Halle</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Schiefer, Johannes" sort="Schiefer, Johannes" uniqKey="Schiefer J" first="Johannes" last="Schiefer">Johannes Schiefer</name>
<affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Department of Neurology, University Hospital RWTH</s1>
<s2>Aachen</s2>
<s3>DEU</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>6 aut.</sZ>
</inist:fA14>
<country>Allemagne</country>
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<region type="district" nuts="2">District de Cologne</region>
<settlement type="city">Aix-la-Chapelle</settlement>
</placeName>
</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 wicri:level="2"><inist:fA14 i1="04"><s1>MassGeneral Institute for Neurodegenerative Disease (MIND), Massachusetts General Hospital and Harvard Medical School</s1>
<s2>Charlestown, Massachusetts</s2>
<s3>USA</s3>
<sZ>7 aut.</sZ>
<sZ>11 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<placeName><region type="state">Massachusetts</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Bernhard Landwehrmeyer, Georg" sort="Bernhard Landwehrmeyer, Georg" uniqKey="Bernhard Landwehrmeyer G" first="Georg" last="Bernhard Landwehrmeyer">Georg Bernhard Landwehrmeyer</name>
<affiliation wicri:level="3"><inist:fA14 i1="05"><s1>Department of Neurology, Ulm University</s1>
<s2>Ulm</s2>
<s3>DEU</s3>
<sZ>8 aut.</sZ>
<sZ>11 aut.</sZ>
</inist:fA14>
<country>Allemagne</country>
<placeName><region type="land" nuts="1">Bade-Wurtemberg</region>
<region type="district" nuts="2">District de Tübingen</region>
<settlement type="city">Ulm</settlement>
</placeName>
</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 wicri:level="3"><inist:fA14 i1="06"><s1>Department of Neurology, Julius-Maximilian-University</s1>
<s2>Würzburg</s2>
<s3>DEU</s3>
<sZ>9 aut.</sZ>
</inist:fA14>
<country>Allemagne</country>
<placeName><region type="land" nuts="1">Bavière</region>
<region type="district" nuts="2">District de Basse-Franconie</region>
<settlement type="city">Wurtzbourg</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Sellhaus, Bernd" sort="Sellhaus, Bernd" uniqKey="Sellhaus B" first="Bernd" last="Sellhaus">Bernd Sellhaus</name>
<affiliation wicri:level="3"><inist:fA14 i1="07"><s1>Institute of Neuropathology, University Hospital RWTH</s1>
<s2>Aachen</s2>
<s3>DEU</s3>
<sZ>10 aut.</sZ>
</inist:fA14>
<country>Allemagne</country>
<placeName><region type="land" nuts="1">Rhénanie-du-Nord-Westphalie</region>
<region type="district" nuts="2">District de Cologne</region>
<settlement type="city">Aix-la-Chapelle</settlement>
</placeName>
</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 wicri:level="2"><inist:fA14 i1="04"><s1>MassGeneral Institute for Neurodegenerative Disease (MIND), Massachusetts General Hospital and Harvard Medical School</s1>
<s2>Charlestown, Massachusetts</s2>
<s3>USA</s3>
<sZ>7 aut.</sZ>
<sZ>11 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<placeName><region type="state">Massachusetts</region>
</placeName>
</affiliation>
<affiliation wicri:level="3"><inist:fA14 i1="05"><s1>Department of Neurology, Ulm University</s1>
<s2>Ulm</s2>
<s3>DEU</s3>
<sZ>8 aut.</sZ>
<sZ>11 aut.</sZ>
</inist:fA14>
<country>Allemagne</country>
<placeName><region type="land" nuts="1">Bade-Wurtemberg</region>
<region type="district" nuts="2">District de Tübingen</region>
<settlement type="city">Ulm</settlement>
</placeName>
</affiliation>
</author>
</analytic>
<series><title level="j" type="main">Movement disorders</title>
<title level="j" type="abbreviated">Mov. disord.</title>
<idno type="ISSN">0885-3185</idno>
<imprint><date when="2007">2007</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
<seriesStmt><title level="j" type="main">Movement disorders</title>
<title level="j" type="abbreviated">Mov. disord.</title>
<idno type="ISSN">0885-3185</idno>
</seriesStmt>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Huntington disease</term>
<term>Mitochondrial disorder</term>
<term>Myopathy</term>
<term>Nervous system diseases</term>
<term>Oxidative stress</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Système nerveux pathologie</term>
<term>Myopathie</term>
<term>Chorée Huntington</term>
<term>Cytopathie mitochondriale</term>
<term>Stress oxydatif</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>
<affiliations><list><country><li>Allemagne</li>
<li>États-Unis</li>
</country>
<region><li>Bade-Wurtemberg</li>
<li>Bavière</li>
<li>District de Basse-Franconie</li>
<li>District de Cologne</li>
<li>District de Tübingen</li>
<li>Massachusetts</li>
<li>Rhénanie-du-Nord-Westphalie</li>
<li>Saxe-Anhalt</li>
</region>
<settlement><li>Aix-la-Chapelle</li>
<li>Magdebourg</li>
<li>Ulm</li>
<li>Wurtzbourg</li>
</settlement>
</list>
<tree><country name="Allemagne"><region name="Rhénanie-du-Nord-Westphalie"><name sortKey="Kosinski, Christoph M" sort="Kosinski, Christoph M" uniqKey="Kosinski C" first="Christoph M." last="Kosinski">Christoph M. Kosinski</name>
</region>
<name sortKey="Bernhard Landwehrmeyer, Georg" sort="Bernhard Landwehrmeyer, Georg" uniqKey="Bernhard Landwehrmeyer G" first="Georg" last="Bernhard Landwehrmeyer">Georg Bernhard Landwehrmeyer</name>
<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="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>
</country>
<country name="États-Unis"><region name="Massachusetts"><name sortKey="Young, Anne B" sort="Young, Anne B" uniqKey="Young A" first="Anne B." last="Young">Anne B. Young</name>
</region>
<name sortKey="Lindenberg, Katrin S" sort="Lindenberg, Katrin S" uniqKey="Lindenberg K" first="Katrin S." last="Lindenberg">Katrin S. Lindenberg</name>
</country>
</tree>
</affiliations>
</record>

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   |texte=   Myopathy as a first symptom of huntington's disease in a marathon runner
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	Movement Disorders (revue)
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Movement Disorders (revue)

Myopathy as a first symptom of huntington's disease in a marathon runner

Myopathy as a first symptom of huntington's disease in a marathon runner

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