Movement Disorders (revue)

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

Identifieur interne : 001763 ( PascalFrancis/Curation ); précédent : 001762; suivant : 001764

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 :

RBID : Pascal:07-0448802

Descripteurs français

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.
pA  
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A03   1    @0 Mov. disord.
A05       @2 22
A06       @2 11
A08 01  1  ENG  @1 Myopathy as a first symptom of huntington's disease in a marathon runner
A11 01  1    @1 KOSINSKI (Christoph M.)
A11 02  1    @1 SCHLANGEN (Christiane)
A11 03  1    @1 GELLERICH (Frank N.)
A11 04  1    @1 GIZATULLINA (Zemfira)
A11 05  1    @1 DESCHAUER (Markus)
A11 06  1    @1 SCHIEFER (Johannes)
A11 07  1    @1 YOUNG (Anne B.)
A11 08  1    @1 BERNHARD LANDWEHRMEYER (Georg)
A11 09  1    @1 TOYKA (Klaus V.)
A11 10  1    @1 SELLHAUS (Bernd)
A11 11  1    @1 LINDENBERG (Katrin S.)
A14 01      @1 Department of Neurology, University Hospital RWTH @2 Aachen @3 DEU @Z 1 aut. @Z 2 aut. @Z 6 aut.
A14 02      @1 KeyNeurotek Pharmaceuticals AG @2 Magdeburg @3 DEU @Z 3 aut.
A14 03      @1 Department of Neurology, Martin-Luther-University @2 Halle @3 DEU @Z 4 aut. @Z 5 aut.
A14 04      @1 MassGeneral Institute for Neurodegenerative Disease (MIND), Massachusetts General Hospital and Harvard Medical School @2 Charlestown, Massachusetts @3 USA @Z 7 aut. @Z 11 aut.
A14 05      @1 Department of Neurology, Ulm University @2 Ulm @3 DEU @Z 8 aut. @Z 11 aut.
A14 06      @1 Department of Neurology, Julius-Maximilian-University @2 Würzburg @3 DEU @Z 9 aut.
A14 07      @1 Institute of Neuropathology, University Hospital RWTH @2 Aachen @3 DEU @Z 10 aut.
A20       @1 1637-1640
A21       @1 2007
A23 01      @0 ENG
A43 01      @1 INIST @2 20953 @5 354000149744800190
A44       @0 0000 @1 © 2007 INIST-CNRS. All rights reserved.
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A60       @1 P @3 CC
A61       @0 A
A64 01  1    @0 Movement disorders
A66 01      @0 USA
C01 01    ENG  @0 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.
C02 01  X    @0 002B17
C02 02  X    @0 002B17G
C02 03  X    @0 002B17H
C03 01  X  FRE  @0 Système nerveux pathologie @5 01
C03 01  X  ENG  @0 Nervous system diseases @5 01
C03 01  X  SPA  @0 Sistema nervioso patología @5 01
C03 02  X  FRE  @0 Myopathie @5 02
C03 02  X  ENG  @0 Myopathy @5 02
C03 02  X  SPA  @0 Miopatía @5 02
C03 03  X  FRE  @0 Chorée Huntington @5 03
C03 03  X  ENG  @0 Huntington disease @5 03
C03 03  X  SPA  @0 Corea Huntington @5 03
C03 04  X  FRE  @0 Cytopathie mitochondriale @2 NM @5 04
C03 04  X  ENG  @0 Mitochondrial disorder @2 NM @5 04
C03 04  X  SPA  @0 Citopatía mitocondrial @2 NM @5 04
C03 05  X  FRE  @0 Stress oxydatif @5 09
C03 05  X  ENG  @0 Oxidative stress @5 09
C03 05  X  SPA  @0 Estrés oxidativo @5 09
C07 01  X  FRE  @0 Encéphale pathologie @5 37
C07 01  X  ENG  @0 Cerebral disorder @5 37
C07 01  X  SPA  @0 Encéfalo patología @5 37
C07 02  X  FRE  @0 Extrapyramidal syndrome @5 38
C07 02  X  ENG  @0 Extrapyramidal syndrome @5 38
C07 02  X  SPA  @0 Extrapiramidal síndrome @5 38
C07 03  X  FRE  @0 Maladie dégénérative @5 39
C07 03  X  ENG  @0 Degenerative disease @5 39
C07 03  X  SPA  @0 Enfermedad degenerativa @5 39
C07 04  X  FRE  @0 Maladie héréditaire @5 40
C07 04  X  ENG  @0 Genetic disease @5 40
C07 04  X  SPA  @0 Enfermedad hereditaria @5 40
C07 05  X  FRE  @0 Système nerveux central pathologie @5 41
C07 05  X  ENG  @0 Central nervous system disease @5 41
C07 05  X  SPA  @0 Sistema nervosio central patología @5 41
C07 06  X  FRE  @0 Enzymopathie @5 42
C07 06  X  ENG  @0 Enzymopathy @5 42
C07 06  X  SPA  @0 Enzimopatía @5 42
C07 07  X  FRE  @0 Métabolisme pathologie @5 43
C07 07  X  ENG  @0 Metabolic diseases @5 43
C07 07  X  SPA  @0 Metabolismo patología @5 43
N21       @1 295
N44 01      @1 OTO
N82       @1 OTO

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Pascal:07-0448802

Le document en format XML

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<term>Huntington disease</term>
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<term>Nervous system diseases</term>
<term>Oxidative stress</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr">
<term>Système nerveux pathologie</term>
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<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>
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<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>
</fA14>
<fA14 i1="02">
<s1>KeyNeurotek Pharmaceuticals AG</s1>
<s2>Magdeburg</s2>
<s3>DEU</s3>
<sZ>3 aut.</sZ>
</fA14>
<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>
</fA14>
<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>
</fA14>
<fA14 i1="05">
<s1>Department of Neurology, Ulm University</s1>
<s2>Ulm</s2>
<s3>DEU</s3>
<sZ>8 aut.</sZ>
<sZ>11 aut.</sZ>
</fA14>
<fA14 i1="06">
<s1>Department of Neurology, Julius-Maximilian-University</s1>
<s2>Würzburg</s2>
<s3>DEU</s3>
<sZ>9 aut.</sZ>
</fA14>
<fA14 i1="07">
<s1>Institute of Neuropathology, University Hospital RWTH</s1>
<s2>Aachen</s2>
<s3>DEU</s3>
<sZ>10 aut.</sZ>
</fA14>
<fA20>
<s1>1637-1640</s1>
</fA20>
<fA21>
<s1>2007</s1>
</fA21>
<fA23 i1="01">
<s0>ENG</s0>
</fA23>
<fA43 i1="01">
<s1>INIST</s1>
<s2>20953</s2>
<s5>354000149744800190</s5>
</fA43>
<fA44>
<s0>0000</s0>
<s1>© 2007 INIST-CNRS. All rights reserved.</s1>
</fA44>
<fA45>
<s0>15 ref.</s0>
</fA45>
<fA47 i1="01" i2="1">
<s0>07-0448802</s0>
</fA47>
<fA60>
<s1>P</s1>
<s3>CC</s3>
</fA60>
<fA61>
<s0>A</s0>
</fA61>
<fA64 i1="01" i2="1">
<s0>Movement disorders</s0>
</fA64>
<fA66 i1="01">
<s0>USA</s0>
</fA66>
<fC01 i1="01" l="ENG">
<s0>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.</s0>
</fC01>
<fC02 i1="01" i2="X">
<s0>002B17</s0>
</fC02>
<fC02 i1="02" i2="X">
<s0>002B17G</s0>
</fC02>
<fC02 i1="03" i2="X">
<s0>002B17H</s0>
</fC02>
<fC03 i1="01" i2="X" l="FRE">
<s0>Système nerveux pathologie</s0>
<s5>01</s5>
</fC03>
<fC03 i1="01" i2="X" l="ENG">
<s0>Nervous system diseases</s0>
<s5>01</s5>
</fC03>
<fC03 i1="01" i2="X" l="SPA">
<s0>Sistema nervioso patología</s0>
<s5>01</s5>
</fC03>
<fC03 i1="02" i2="X" l="FRE">
<s0>Myopathie</s0>
<s5>02</s5>
</fC03>
<fC03 i1="02" i2="X" l="ENG">
<s0>Myopathy</s0>
<s5>02</s5>
</fC03>
<fC03 i1="02" i2="X" l="SPA">
<s0>Miopatía</s0>
<s5>02</s5>
</fC03>
<fC03 i1="03" i2="X" l="FRE">
<s0>Chorée Huntington</s0>
<s5>03</s5>
</fC03>
<fC03 i1="03" i2="X" l="ENG">
<s0>Huntington disease</s0>
<s5>03</s5>
</fC03>
<fC03 i1="03" i2="X" l="SPA">
<s0>Corea Huntington</s0>
<s5>03</s5>
</fC03>
<fC03 i1="04" i2="X" l="FRE">
<s0>Cytopathie mitochondriale</s0>
<s2>NM</s2>
<s5>04</s5>
</fC03>
<fC03 i1="04" i2="X" l="ENG">
<s0>Mitochondrial disorder</s0>
<s2>NM</s2>
<s5>04</s5>
</fC03>
<fC03 i1="04" i2="X" l="SPA">
<s0>Citopatía mitocondrial</s0>
<s2>NM</s2>
<s5>04</s5>
</fC03>
<fC03 i1="05" i2="X" l="FRE">
<s0>Stress oxydatif</s0>
<s5>09</s5>
</fC03>
<fC03 i1="05" i2="X" l="ENG">
<s0>Oxidative stress</s0>
<s5>09</s5>
</fC03>
<fC03 i1="05" i2="X" l="SPA">
<s0>Estrés oxidativo</s0>
<s5>09</s5>
</fC03>
<fC07 i1="01" i2="X" l="FRE">
<s0>Encéphale pathologie</s0>
<s5>37</s5>
</fC07>
<fC07 i1="01" i2="X" l="ENG">
<s0>Cerebral disorder</s0>
<s5>37</s5>
</fC07>
<fC07 i1="01" i2="X" l="SPA">
<s0>Encéfalo patología</s0>
<s5>37</s5>
</fC07>
<fC07 i1="02" i2="X" l="FRE">
<s0>Extrapyramidal syndrome</s0>
<s5>38</s5>
</fC07>
<fC07 i1="02" i2="X" l="ENG">
<s0>Extrapyramidal syndrome</s0>
<s5>38</s5>
</fC07>
<fC07 i1="02" i2="X" l="SPA">
<s0>Extrapiramidal síndrome</s0>
<s5>38</s5>
</fC07>
<fC07 i1="03" i2="X" l="FRE">
<s0>Maladie dégénérative</s0>
<s5>39</s5>
</fC07>
<fC07 i1="03" i2="X" l="ENG">
<s0>Degenerative disease</s0>
<s5>39</s5>
</fC07>
<fC07 i1="03" i2="X" l="SPA">
<s0>Enfermedad degenerativa</s0>
<s5>39</s5>
</fC07>
<fC07 i1="04" i2="X" l="FRE">
<s0>Maladie héréditaire</s0>
<s5>40</s5>
</fC07>
<fC07 i1="04" i2="X" l="ENG">
<s0>Genetic disease</s0>
<s5>40</s5>
</fC07>
<fC07 i1="04" i2="X" l="SPA">
<s0>Enfermedad hereditaria</s0>
<s5>40</s5>
</fC07>
<fC07 i1="05" i2="X" l="FRE">
<s0>Système nerveux central pathologie</s0>
<s5>41</s5>
</fC07>
<fC07 i1="05" i2="X" l="ENG">
<s0>Central nervous system disease</s0>
<s5>41</s5>
</fC07>
<fC07 i1="05" i2="X" l="SPA">
<s0>Sistema nervosio central patología</s0>
<s5>41</s5>
</fC07>
<fC07 i1="06" i2="X" l="FRE">
<s0>Enzymopathie</s0>
<s5>42</s5>
</fC07>
<fC07 i1="06" i2="X" l="ENG">
<s0>Enzymopathy</s0>
<s5>42</s5>
</fC07>
<fC07 i1="06" i2="X" l="SPA">
<s0>Enzimopatía</s0>
<s5>42</s5>
</fC07>
<fC07 i1="07" i2="X" l="FRE">
<s0>Métabolisme pathologie</s0>
<s5>43</s5>
</fC07>
<fC07 i1="07" i2="X" l="ENG">
<s0>Metabolic diseases</s0>
<s5>43</s5>
</fC07>
<fC07 i1="07" i2="X" l="SPA">
<s0>Metabolismo patología</s0>
<s5>43</s5>
</fC07>
<fN21>
<s1>295</s1>
</fN21>
<fN44 i1="01">
<s1>OTO</s1>
</fN44>
<fN82>
<s1>OTO</s1>
</fN82>
</pA>
</standard>
</inist>
</record>

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