Myopathy as a first symptom of Huntington's disease in a Marathon runner.
Identifieur interne : 001C57 ( Ncbi/Curation ); précédent : 001C56; suivant : 001C58Myopathy 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
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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. 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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></record>Pour manipuler ce document sous Unix (Dilib)
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