Myopathy as a first symptom of Huntington's disease in a Marathon runner
Identifieur interne : 002D27 ( Main/Exploration ); précédent : 002D26; suivant : 002D28Myopathy 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 ] ; 2007-08-15.
Descripteurs français
- Pascal (Inist)
English descriptors
- KwdEn :
- Adult, Disease Progression, Humans, Huntington Disease (complications), Huntington Disease (genetics), Huntington disease, Male, Mitochondria, Muscle (pathology), Mitochondrial disorder, Muscle, Skeletal (pathology), Muscular Diseases (etiology), Muscular Diseases (genetics), Muscular Diseases (pathology), Mutation, Myopathy, Nervous system diseases, Oxidative stress, Oxygen Consumption (physiology), Proton Pumps (genetics), Running, mitochondrial disease, neurodegenerative disease, oxidative stress.
- 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. © 2007 Movement Disorder Society
Url:
DOI: 10.1002/mds.21550
Affiliations:
- Allemagne, États-Unis
- Bade-Wurtemberg, Bavière, District de Basse-Franconie, District de Tübingen, Massachusetts, Saxe-Anhalt
- Magdebourg, Ulm, Wurtzbourg
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Le document en format XML
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Young</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>MassGeneral Institute for Neurodegenerative Disease (MIND), Massachusetts General Hospital and Harvard Medical School, Charlestown, Massachusetts</wicri:regionArea><placeName><region type="state">Massachusetts</region></placeName></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 wicri:level="3"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neurology, Ulm University, Ulm</wicri:regionArea><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. 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Lindenberg</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>MassGeneral Institute for Neurodegenerative Disease (MIND), Massachusetts General Hospital and Harvard Medical School, Charlestown, Massachusetts</wicri:regionArea><placeName><region type="state">Massachusetts</region></placeName></affiliation><affiliation wicri:level="3"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neurology, Ulm University, Ulm</wicri:regionArea><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><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>Adult</term><term>Disease Progression</term><term>Humans</term><term>Huntington Disease (complications)</term><term>Huntington Disease (genetics)</term><term>Huntington disease</term><term>Male</term><term>Mitochondria, Muscle (pathology)</term><term>Mitochondrial disorder</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>Myopathy</term><term>Nervous system diseases</term><term>Oxidative stress</term><term>Oxygen Consumption (physiology)</term><term>Proton Pumps (genetics)</term><term>Running</term><term>mitochondrial disease</term><term>neurodegenerative disease</term><term>oxidative stress</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><keywords scheme="Pascal" xml:lang="fr"><term>Chorée Huntington</term><term>Cytopathie mitochondriale</term><term>Myopathie</term><term>Stress oxydatif</term><term>Système nerveux pathologie</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><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 Tübingen</li><li>Massachusetts</li><li>Saxe-Anhalt</li></region><settlement><li>Magdebourg</li><li>Ulm</li><li>Wurtzbourg</li></settlement></list><tree><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><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></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>Pour manipuler ce document sous Unix (Dilib)
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