MovDisordV3, PascalFrancis, Corpus, bibRecord, 001558

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

Identifieur interne : 001558 ( PascalFrancis/Corpus ); précédent : 001557; suivant : 001559

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

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

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.

Notice en format standard (ISO 2709)

Pour connaître la documentation sur le format Inist Standard.

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A03		`1`		`@0 Mov. disord.`
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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.`
A45				`@0 15 ref.`
A47	`01`	`1`		`@0 07-0448802`
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`

Format Inist (serveur)

NO :	PASCAL 07-0448802 INIST
ET :	Myopathy as a first symptom of huntington's disease in a marathon runner
AU :	KOSINSKI (Christoph M.); SCHLANGEN (Christiane); GELLERICH (Frank N.); GIZATULLINA (Zemfira); DESCHAUER (Markus); SCHIEFER (Johannes); YOUNG (Anne B.); BERNHARD LANDWEHRMEYER (Georg); TOYKA (Klaus V.); SELLHAUS (Bernd); LINDENBERG (Katrin S.)
AF :	Department of Neurology, University Hospital RWTH/Aachen/Allemagne (1 aut., 2 aut., 6 aut.); KeyNeurotek Pharmaceuticals AG/Magdeburg/Allemagne (3 aut.); Department of Neurology, Martin-Luther-University/Halle/Allemagne (4 aut., 5 aut.); MassGeneral Institute for Neurodegenerative Disease (MIND), Massachusetts General Hospital and Harvard Medical School/Charlestown, Massachusetts/Etats-Unis (7 aut., 11 aut.); Department of Neurology, Ulm University/Ulm/Allemagne (8 aut., 11 aut.); Department of Neurology, Julius-Maximilian-University/Würzburg/Allemagne (9 aut.); Institute of Neuropathology, University Hospital RWTH/Aachen/Allemagne (10 aut.)
DT :	Publication en série; Courte communication, note brève; Niveau analytique
SO :	Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2007; Vol. 22; No. 11; Pp. 1637-1640; Bibl. 15 ref.
LA :	Anglais
EA :	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.
CC :	002B17; 002B17G; 002B17H
FD :	Système nerveux pathologie; Myopathie; Chorée Huntington; Cytopathie mitochondriale; Stress oxydatif
FG :	Encéphale pathologie; Extrapyramidal syndrome; Maladie dégénérative; Maladie héréditaire; Système nerveux central pathologie; Enzymopathie; Métabolisme pathologie
ED :	Nervous system diseases; Myopathy; Huntington disease; Mitochondrial disorder; Oxidative stress
EG :	Cerebral disorder; Extrapyramidal syndrome; Degenerative disease; Genetic disease; Central nervous system disease; Enzymopathy; Metabolic diseases
SD :	Sistema nervioso patología; Miopatía; Corea Huntington; Citopatía mitocondrial; Estrés oxidativo
LO :	INIST-20953.354000149744800190
ID :	07-0448802

Links to Exploration step

Pascal:07-0448802

Le document en format XML

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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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<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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<author><name sortKey="Lindenberg, Katrin S" sort="Lindenberg, Katrin S" uniqKey="Lindenberg K" first="Katrin S." last="Lindenberg">Katrin S. Lindenberg</name>
<affiliation><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>
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<affiliation><inist:fA14 i1="05"><s1>Department of Neurology, Ulm University</s1>
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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><inist:fA14 i1="01"><s1>Department of Neurology, University Hospital RWTH</s1>
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<author><name sortKey="Schlangen, Christiane" sort="Schlangen, Christiane" uniqKey="Schlangen C" first="Christiane" last="Schlangen">Christiane Schlangen</name>
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<s2>Magdeburg</s2>
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<sZ>3 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Gizatullina, Zemfira" sort="Gizatullina, Zemfira" uniqKey="Gizatullina Z" first="Zemfira" last="Gizatullina">Zemfira Gizatullina</name>
<affiliation><inist:fA14 i1="03"><s1>Department of Neurology, Martin-Luther-University</s1>
<s2>Halle</s2>
<s3>DEU</s3>
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<sZ>5 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Deschauer, Markus" sort="Deschauer, Markus" uniqKey="Deschauer M" first="Markus" last="Deschauer">Markus Deschauer</name>
<affiliation><inist:fA14 i1="03"><s1>Department of Neurology, Martin-Luther-University</s1>
<s2>Halle</s2>
<s3>DEU</s3>
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</inist:fA14>
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</author>
<author><name sortKey="Schiefer, Johannes" sort="Schiefer, Johannes" uniqKey="Schiefer J" first="Johannes" last="Schiefer">Johannes Schiefer</name>
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<s2>Aachen</s2>
<s3>DEU</s3>
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<sZ>6 aut.</sZ>
</inist:fA14>
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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>
<affiliation><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>
</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><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>
</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><inist:fA14 i1="06"><s1>Department of Neurology, Julius-Maximilian-University</s1>
<s2>Würzburg</s2>
<s3>DEU</s3>
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</author>
<author><name sortKey="Sellhaus, Bernd" sort="Sellhaus, Bernd" uniqKey="Sellhaus B" first="Bernd" last="Sellhaus">Bernd Sellhaus</name>
<affiliation><inist:fA14 i1="07"><s1>Institute of Neuropathology, University Hospital RWTH</s1>
<s2>Aachen</s2>
<s3>DEU</s3>
<sZ>10 aut.</sZ>
</inist:fA14>
</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><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>
</affiliation>
<affiliation><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>
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</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>
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</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>
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<fA11 i1="01" i2="1"><s1>KOSINSKI (Christoph M.)</s1>
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<fA11 i1="02" i2="1"><s1>SCHLANGEN (Christiane)</s1>
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<fA11 i1="03" i2="1"><s1>GELLERICH (Frank N.)</s1>
</fA11>
<fA11 i1="04" i2="1"><s1>GIZATULLINA (Zemfira)</s1>
</fA11>
<fA11 i1="05" i2="1"><s1>DESCHAUER (Markus)</s1>
</fA11>
<fA11 i1="06" i2="1"><s1>SCHIEFER (Johannes)</s1>
</fA11>
<fA11 i1="07" i2="1"><s1>YOUNG (Anne B.)</s1>
</fA11>
<fA11 i1="08" i2="1"><s1>BERNHARD LANDWEHRMEYER (Georg)</s1>
</fA11>
<fA11 i1="09" i2="1"><s1>TOYKA (Klaus V.)</s1>
</fA11>
<fA11 i1="10" i2="1"><s1>SELLHAUS (Bernd)</s1>
</fA11>
<fA11 i1="11" i2="1"><s1>LINDENBERG (Katrin S.)</s1>
</fA11>
<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>
</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>
<server><NO>PASCAL 07-0448802 INIST</NO>
<ET>Myopathy as a first symptom of huntington's disease in a marathon runner</ET>
<AU>KOSINSKI (Christoph M.); SCHLANGEN (Christiane); GELLERICH (Frank N.); GIZATULLINA (Zemfira); DESCHAUER (Markus); SCHIEFER (Johannes); YOUNG (Anne B.); BERNHARD LANDWEHRMEYER (Georg); TOYKA (Klaus V.); SELLHAUS (Bernd); LINDENBERG (Katrin S.)</AU>
<AF>Department of Neurology, University Hospital RWTH/Aachen/Allemagne (1 aut., 2 aut., 6 aut.); KeyNeurotek Pharmaceuticals AG/Magdeburg/Allemagne (3 aut.); Department of Neurology, Martin-Luther-University/Halle/Allemagne (4 aut., 5 aut.); MassGeneral Institute for Neurodegenerative Disease (MIND), Massachusetts General Hospital and Harvard Medical School/Charlestown, Massachusetts/Etats-Unis (7 aut., 11 aut.); Department of Neurology, Ulm University/Ulm/Allemagne (8 aut., 11 aut.); Department of Neurology, Julius-Maximilian-University/Würzburg/Allemagne (9 aut.); Institute of Neuropathology, University Hospital RWTH/Aachen/Allemagne (10 aut.)</AF>
<DT>Publication en série; Courte communication, note brève; Niveau analytique</DT>
<SO>Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2007; Vol. 22; No. 11; Pp. 1637-1640; Bibl. 15 ref.</SO>
<LA>Anglais</LA>
<EA>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.</EA>
<CC>002B17; 002B17G; 002B17H</CC>
<FD>Système nerveux pathologie; Myopathie; Chorée Huntington; Cytopathie mitochondriale; Stress oxydatif</FD>
<FG>Encéphale pathologie; Extrapyramidal syndrome; Maladie dégénérative; Maladie héréditaire; Système nerveux central pathologie; Enzymopathie; Métabolisme pathologie</FG>
<ED>Nervous system diseases; Myopathy; Huntington disease; Mitochondrial disorder; Oxidative stress</ED>
<EG>Cerebral disorder; Extrapyramidal syndrome; Degenerative disease; Genetic disease; Central nervous system disease; Enzymopathy; Metabolic diseases</EG>
<SD>Sistema nervioso patología; Miopatía; Corea Huntington; Citopatía mitocondrial; Estrés oxidativo</SD>
<LO>INIST-20953.354000149744800190</LO>
<ID>07-0448802</ID>
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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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