MovDisordV3, PascalFrancis, Curation, bibRecord, 000D00

Lack of mutations in the epsilon-sarcoglycan gene in patients with different subtypes of Primary dystonias

Identifieur interne : 000D00 ( PascalFrancis/Curation ); précédent : 000C99; suivant : 000D01

Lack of mutations in the epsilon-sarcoglycan gene in patients with different subtypes of Primary dystonias

Auteurs : Kathrin Grundmann [Allemagne] ; Ulrike Laubis-Herrmann [Allemagne] ; Dirk Dressier [Allemagne] ; Juliane Vollmer-Haase [Allemagne] ; Peter Bauer [Allemagne] ; Manfred Stuhrmann [Allemagne] ; Thorsten Schulte [Allemagne] ; Ludger Schöls [Allemagne] ; Helge Topka [Allemagne] ; Olaf Riess [Allemagne]

Source :

Movement disorders [ 0885-3185 ] ; 2004.

RBID : Pascal:05-0001330

Descripteurs français

Pascal (Inist)
- Système nerveux pathologie, Mutation, Homme, Dystonie, Soustype, Contrôle moteur.
Wicri :
- topic : Homme.

English descriptors

KwdEn :
- Dystonia, Human, Motor control, Mutation, Nervous system diseases, Subtype.

Abstract

Primary dystonias represent a clinically and genetically heterogeneous group of movement disorders. Mutations in the e-sarcoglycan (SGCE) gene have been found recently to cause myoclonus-dystonia (MD). Considerable clinical variation of SGCE mutation carriers leads to the hypothesis that mutations in the SGCE gene might also be relevant for other subtypes of dystonias. To determine the contribution of mutations in the SGCE gene in patients with different subtypes of dystonias, we analyzed the coding sequence of the SGCE gene in a group of 296 patients with a clinical phenotype of primary dystonia and in 2 patients with a clinical phenotype of myoclonus-dystonia. Patients with mutations in the DYT1 gene were excluded. We could not detect a mutation in the SGCE gene in any of the 298 patients. Our results suggest that mutations in the SGCE gene cannot be held responsible for other subtypes of primary dystonia.

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A08	`01`	`1`	`ENG`	`@1 Lack of mutations in the epsilon-sarcoglycan gene in patients with different subtypes of Primary dystonias`
A11	`01`	`1`		`@1 GRUNDMANN (Kathrin)`
A11	`02`	`1`		`@1 LAUBIS-HERRMANN (Ulrike)`
A11	`03`	`1`		`@1 DRESSIER (Dirk)`
A11	`04`	`1`		`@1 VOLLMER-HAASE (Juliane)`
A11	`05`	`1`		`@1 BAUER (Peter)`
A11	`06`	`1`		`@1 STUHRMANN (Manfred)`
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A11	`10`	`1`		`@1 RIESS (Olaf)`
A14	`01`			`@1 Department of Medical Genetics, University of Tübingen @2 Tübingen @3 DEU @Z 1 aut. @Z 5 aut. @Z 10 aut.`
A14	`02`			`@1 Departments of Neurology, University of Tübingen @2 Tübingen @3 DEU @Z 2 aut.`
A14	`03`			`@1 Department of Neurology, University of Rostock @2 Rostock @3 DEU @Z 3 aut.`
A14	`04`			`@1 Department of Neurology, University of Münster @2 Münster @3 DEU @Z 4 aut.`
A14	`05`			`@1 Institute of Human Genetics, Medical School Hannover @2 Hannover @3 DEU @Z 6 aut.`
A14	`06`			`@1 Department of Neurology, Rohr University Bochum @2 Bochum @3 DEU @Z 7 aut. @Z 8 aut.`
A14	`07`			`@1 Department of Neurology and Clinical Neurophysiology, Hospital Munich Bogenhausen @3 DEU @Z 9 aut.`
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C01	`01`		`ENG`	@0 Primary dystonias represent a clinically and genetically heterogeneous group of movement disorders. Mutations in the e-sarcoglycan (SGCE) gene have been found recently to cause myoclonus-dystonia (MD). Considerable clinical variation of SGCE mutation carriers leads to the hypothesis that mutations in the SGCE gene might also be relevant for other subtypes of dystonias. To determine the contribution of mutations in the SGCE gene in patients with different subtypes of dystonias, we analyzed the coding sequence of the SGCE gene in a group of 296 patients with a clinical phenotype of primary dystonia and in 2 patients with a clinical phenotype of myoclonus-dystonia. Patients with mutations in the DYT1 gene were excluded. We could not detect a mutation in the SGCE gene in any of the 298 patients. Our results suggest that mutations in the SGCE gene cannot be held responsible for other subtypes of primary dystonia.
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C03	`01`	`X`	`FRE`	`@0 Système nerveux pathologie @5 01`
C03	`01`	`X`	`ENG`	`@0 Nervous system diseases @5 01`
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C03	`02`	`X`	`FRE`	`@0 Mutation @5 02`
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C03	`03`	`X`	`FRE`	`@0 Homme @5 03`
C03	`03`	`X`	`ENG`	`@0 Human @5 03`
C03	`03`	`X`	`SPA`	`@0 Hombre @5 03`
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C03	`04`	`X`	`SPA`	`@0 Distonía @5 04`
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C03	`05`	`X`	`SPA`	`@0 Subtipo @5 05`
C03	`06`	`X`	`FRE`	`@0 Contrôle moteur @5 25`
C03	`06`	`X`	`ENG`	`@0 Motor control @5 25`
C03	`06`	`X`	`SPA`	`@0 Control motor @5 25`
C07	`01`	`X`	`FRE`	`@0 Extrapyramidal syndrome @5 37`
C07	`01`	`X`	`ENG`	`@0 Extrapyramidal syndrome @5 37`
C07	`01`	`X`	`SPA`	`@0 Extrapiramidal síndrome @5 37`
C07	`02`	`X`	`FRE`	`@0 Mouvement involontaire @5 38`
C07	`02`	`X`	`ENG`	`@0 Involuntary movement @5 38`
C07	`02`	`X`	`SPA`	`@0 Movimiento involuntario @5 38`
C07	`03`	`X`	`FRE`	`@0 Muscle strié pathologie @5 39`
C07	`03`	`X`	`ENG`	`@0 Striated muscle disease @5 39`
C07	`03`	`X`	`SPA`	`@0 Músculo estriado patología @5 39`
C07	`04`	`X`	`FRE`	`@0 Trouble neurologique @5 40`
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C07	`05`	`X`	`SPA`	`@0 Encéfalo patología @5 41`
C07	`06`	`X`	`FRE`	`@0 Système nerveux central pathologie @5 42`
C07	`06`	`X`	`ENG`	`@0 Central nervous system disease @5 42`
C07	`06`	`X`	`SPA`	`@0 Sistema nervosio central patología @5 42`
N21				`@1 004`
N44	`01`			`@1 OTO`
N82				`@1 OTO`

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Pascal:05-0001330

Le document en format XML

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<series><title level="j" type="main">Movement disorders</title>
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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Dystonia</term>
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<term>Nervous system diseases</term>
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</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Système nerveux pathologie</term>
<term>Mutation</term>
<term>Homme</term>
<term>Dystonie</term>
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<front><div type="abstract" xml:lang="en">Primary dystonias represent a clinically and genetically heterogeneous group of movement disorders. Mutations in the e-sarcoglycan (SGCE) gene have been found recently to cause myoclonus-dystonia (MD). Considerable clinical variation of SGCE mutation carriers leads to the hypothesis that mutations in the SGCE gene might also be relevant for other subtypes of dystonias. To determine the contribution of mutations in the SGCE gene in patients with different subtypes of dystonias, we analyzed the coding sequence of the SGCE gene in a group of 296 patients with a clinical phenotype of primary dystonia and in 2 patients with a clinical phenotype of myoclonus-dystonia. Patients with mutations in the DYT1 gene were excluded. We could not detect a mutation in the SGCE gene in any of the 298 patients. Our results suggest that mutations in the SGCE gene cannot be held responsible for other subtypes of primary dystonia.</div>
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<fA14 i1="03"><s1>Department of Neurology, University of Rostock</s1>
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<fA14 i1="04"><s1>Department of Neurology, University of Münster</s1>
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<s3>DEU</s3>
<sZ>6 aut.</sZ>
</fA14>
<fA14 i1="06"><s1>Department of Neurology, Rohr University Bochum</s1>
<s2>Bochum</s2>
<s3>DEU</s3>
<sZ>7 aut.</sZ>
<sZ>8 aut.</sZ>
</fA14>
<fA14 i1="07"><s1>Department of Neurology and Clinical Neurophysiology, Hospital Munich Bogenhausen</s1>
<s3>DEU</s3>
<sZ>9 aut.</sZ>
</fA14>
<fA20><s1>1294-1297</s1>
</fA20>
<fA21><s1>2004</s1>
</fA21>
<fA23 i1="01"><s0>ENG</s0>
</fA23>
<fA43 i1="01"><s1>INIST</s1>
<s2>20953</s2>
<s5>354000122631260040</s5>
</fA43>
<fA44><s0>0000</s0>
<s1>© 2005 INIST-CNRS. All rights reserved.</s1>
</fA44>
<fA45><s0>29 ref.</s0>
</fA45>
<fA47 i1="01" i2="1"><s0>05-0001330</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>Primary dystonias represent a clinically and genetically heterogeneous group of movement disorders. Mutations in the e-sarcoglycan (SGCE) gene have been found recently to cause myoclonus-dystonia (MD). Considerable clinical variation of SGCE mutation carriers leads to the hypothesis that mutations in the SGCE gene might also be relevant for other subtypes of dystonias. To determine the contribution of mutations in the SGCE gene in patients with different subtypes of dystonias, we analyzed the coding sequence of the SGCE gene in a group of 296 patients with a clinical phenotype of primary dystonia and in 2 patients with a clinical phenotype of myoclonus-dystonia. Patients with mutations in the DYT1 gene were excluded. We could not detect a mutation in the SGCE gene in any of the 298 patients. Our results suggest that mutations in the SGCE gene cannot be held responsible for other subtypes of primary dystonia.</s0>
</fC01>
<fC02 i1="01" i2="X"><s0>002B17</s0>
</fC02>
<fC02 i1="02" i2="X"><s0>002B17H</s0>
</fC02>
<fC02 i1="03" i2="X"><s0>002B17G</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>Mutation</s0>
<s5>02</s5>
</fC03>
<fC03 i1="02" i2="X" l="ENG"><s0>Mutation</s0>
<s5>02</s5>
</fC03>
<fC03 i1="02" i2="X" l="SPA"><s0>Mutación</s0>
<s5>02</s5>
</fC03>
<fC03 i1="03" i2="X" l="FRE"><s0>Homme</s0>
<s5>03</s5>
</fC03>
<fC03 i1="03" i2="X" l="ENG"><s0>Human</s0>
<s5>03</s5>
</fC03>
<fC03 i1="03" i2="X" l="SPA"><s0>Hombre</s0>
<s5>03</s5>
</fC03>
<fC03 i1="04" i2="X" l="FRE"><s0>Dystonie</s0>
<s5>04</s5>
</fC03>
<fC03 i1="04" i2="X" l="ENG"><s0>Dystonia</s0>
<s5>04</s5>
</fC03>
<fC03 i1="04" i2="X" l="SPA"><s0>Distonía</s0>
<s5>04</s5>
</fC03>
<fC03 i1="05" i2="X" l="FRE"><s0>Soustype</s0>
<s5>05</s5>
</fC03>
<fC03 i1="05" i2="X" l="ENG"><s0>Subtype</s0>
<s5>05</s5>
</fC03>
<fC03 i1="05" i2="X" l="SPA"><s0>Subtipo</s0>
<s5>05</s5>
</fC03>
<fC03 i1="06" i2="X" l="FRE"><s0>Contrôle moteur</s0>
<s5>25</s5>
</fC03>
<fC03 i1="06" i2="X" l="ENG"><s0>Motor control</s0>
<s5>25</s5>
</fC03>
<fC03 i1="06" i2="X" l="SPA"><s0>Control motor</s0>
<s5>25</s5>
</fC03>
<fC07 i1="01" i2="X" l="FRE"><s0>Extrapyramidal syndrome</s0>
<s5>37</s5>
</fC07>
<fC07 i1="01" i2="X" l="ENG"><s0>Extrapyramidal syndrome</s0>
<s5>37</s5>
</fC07>
<fC07 i1="01" i2="X" l="SPA"><s0>Extrapiramidal síndrome</s0>
<s5>37</s5>
</fC07>
<fC07 i1="02" i2="X" l="FRE"><s0>Mouvement involontaire</s0>
<s5>38</s5>
</fC07>
<fC07 i1="02" i2="X" l="ENG"><s0>Involuntary movement</s0>
<s5>38</s5>
</fC07>
<fC07 i1="02" i2="X" l="SPA"><s0>Movimiento involuntario</s0>
<s5>38</s5>
</fC07>
<fC07 i1="03" i2="X" l="FRE"><s0>Muscle strié pathologie</s0>
<s5>39</s5>
</fC07>
<fC07 i1="03" i2="X" l="ENG"><s0>Striated muscle disease</s0>
<s5>39</s5>
</fC07>
<fC07 i1="03" i2="X" l="SPA"><s0>Músculo estriado patología</s0>
<s5>39</s5>
</fC07>
<fC07 i1="04" i2="X" l="FRE"><s0>Trouble neurologique</s0>
<s5>40</s5>
</fC07>
<fC07 i1="04" i2="X" l="ENG"><s0>Neurological disorder</s0>
<s5>40</s5>
</fC07>
<fC07 i1="04" i2="X" l="SPA"><s0>Trastorno neurológico</s0>
<s5>40</s5>
</fC07>
<fC07 i1="05" i2="X" l="FRE"><s0>Encéphale pathologie</s0>
<s5>41</s5>
</fC07>
<fC07 i1="05" i2="X" l="ENG"><s0>Cerebral disorder</s0>
<s5>41</s5>
</fC07>
<fC07 i1="05" i2="X" l="SPA"><s0>Encéfalo patología</s0>
<s5>41</s5>
</fC07>
<fC07 i1="06" i2="X" l="FRE"><s0>Système nerveux central pathologie</s0>
<s5>42</s5>
</fC07>
<fC07 i1="06" i2="X" l="ENG"><s0>Central nervous system disease</s0>
<s5>42</s5>
</fC07>
<fC07 i1="06" i2="X" l="SPA"><s0>Sistema nervosio central patología</s0>
<s5>42</s5>
</fC07>
<fN21><s1>004</s1>
</fN21>
<fN44 i1="01"><s1>OTO</s1>
</fN44>
<fN82><s1>OTO</s1>
</fN82>
</pA>
</standard>
</inist>
</record>

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	Movement Disorders (revue)
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Movement Disorders (revue)

Lack of mutations in the epsilon-sarcoglycan gene in patients with different subtypes of Primary dystonias

Lack of mutations in the epsilon-sarcoglycan gene in patients with different subtypes of Primary dystonias

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