Lack of mutations in the epsilon‐sarcoglycan gene in patients with different subtypes of primary dystonias
Identifieur interne : 003C73 ( Main/Exploration ); précédent : 003C72; suivant : 003C74Lack of mutations in the epsilon‐sarcoglycan gene in patients with different subtypes of primary dystonias
Auteurs : Kathrin Grundmann [Allemagne] ; Ulrike Laubis-Herrmann [Allemagne] ; Dirk Dressler [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 ] ; 2004-11.
Descripteurs français
- Pascal (Inist)
- Wicri :
- topic : Homme.
English descriptors
- KwdEn :
- Adult, DNA Mutational Analysis, Dystonia, Dystonia (classification), Dystonia (genetics), Exons (genetics), Female, Human, Humans, Introns (genetics), Male, Middle Aged, Motor control, Mutation, Myoclonus (classification), Myoclonus (genetics), Nervous system diseases, Phenotype, Polymerase Chain Reaction, SGCE gene, Sarcoglycans (genetics), Subtype, dHPLC, mutation, myoclonus dystonia, primary torsion dystonia.
- MESH :
- chemical , genetics : Sarcoglycans.
- classification : Dystonia, Myoclonus.
- genetics : Dystonia, Exons, Introns, Myoclonus.
- Adult, DNA Mutational Analysis, Female, Humans, Male, Middle Aged, Phenotype, Polymerase Chain Reaction.
Abstract
Primary dystonias represent a clinically and genetically heterogeneous group of movement disorders. Mutations in the ϵ‐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. © 2004 Movement Disorder Society
Url:
DOI: 10.1002/mds.20128
Affiliations:
- Allemagne
- Bade-Wurtemberg, Basse-Saxe, District de Münster, District de Tübingen, Rhénanie-du-Nord-Westphalie
- Hanovre, Münster, Tübingen
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Bochum</wicri:regionArea><wicri:noRegion>Bochum</wicri:noRegion><wicri:noRegion>Bochum</wicri:noRegion></affiliation></author><author><name sortKey="Schols, Ludger" sort="Schols, Ludger" uniqKey="Schols L" first="Ludger" last="Schöls">Ludger Schöls</name><affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neurology, Ruhr University Bochum, Bochum</wicri:regionArea><wicri:noRegion>Bochum</wicri:noRegion><wicri:noRegion>Bochum</wicri:noRegion></affiliation></author><author><name sortKey="Topka, Helge" sort="Topka, Helge" uniqKey="Topka H" first="Helge" last="Topka">Helge Topka</name><affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neurology and Clinical Neurophysiology, Hospital Munich Bogenhausen</wicri:regionArea><wicri:noRegion>Hospital Munich Bogenhausen</wicri:noRegion><wicri:noRegion>Hospital Munich Bogenhausen</wicri:noRegion></affiliation></author><author><name sortKey="Riess, Olaf" sort="Riess, Olaf" uniqKey="Riess O" first="Olaf" last="Riess">Olaf Riess</name><affiliation wicri:level="3"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Medical Genetics, University of Tübingen, Tübingen</wicri:regionArea><placeName><region type="land" nuts="1">Bade-Wurtemberg</region><region type="district" nuts="2">District de Tübingen</region><settlement type="city">Tübingen</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="2004-11">2004-11</date><biblScope unit="vol">19</biblScope><biblScope unit="issue">11</biblScope><biblScope unit="page" from="1294">1294</biblScope><biblScope unit="page" to="1297">1297</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">66A0F5FF06D39E07DE3CB6227DBF86B7A83A5886</idno><idno type="DOI">10.1002/mds.20128</idno><idno type="ArticleID">MDS20128</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>DNA Mutational Analysis</term><term>Dystonia</term><term>Dystonia (classification)</term><term>Dystonia (genetics)</term><term>Exons (genetics)</term><term>Female</term><term>Human</term><term>Humans</term><term>Introns (genetics)</term><term>Male</term><term>Middle Aged</term><term>Motor control</term><term>Mutation</term><term>Myoclonus (classification)</term><term>Myoclonus (genetics)</term><term>Nervous system diseases</term><term>Phenotype</term><term>Polymerase Chain Reaction</term><term>SGCE gene</term><term>Sarcoglycans (genetics)</term><term>Subtype</term><term>dHPLC</term><term>mutation</term><term>myoclonus dystonia</term><term>primary torsion dystonia</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Sarcoglycans</term></keywords><keywords scheme="MESH" qualifier="classification" xml:lang="en"><term>Dystonia</term><term>Myoclonus</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Dystonia</term><term>Exons</term><term>Introns</term><term>Myoclonus</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>DNA Mutational Analysis</term><term>Female</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Phenotype</term><term>Polymerase Chain Reaction</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Contrôle moteur</term><term>Dystonie</term><term>Homme</term><term>Mutation</term><term>Soustype</term><term>Système nerveux pathologie</term></keywords><keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Homme</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Primary dystonias represent a clinically and genetically heterogeneous group of movement disorders. Mutations in the ϵ‐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. © 2004 Movement Disorder Society</div></front></TEI><affiliations><list><country><li>Allemagne</li></country><region><li>Bade-Wurtemberg</li><li>Basse-Saxe</li><li>District de Münster</li><li>District de Tübingen</li><li>Rhénanie-du-Nord-Westphalie</li></region><settlement><li>Hanovre</li><li>Münster</li><li>Tübingen</li></settlement></list><tree><country name="Allemagne"><region name="Bade-Wurtemberg"><name sortKey="Grundmann, Kathrin" sort="Grundmann, Kathrin" uniqKey="Grundmann K" first="Kathrin" last="Grundmann">Kathrin Grundmann</name></region><name sortKey="Bauer, Peter" sort="Bauer, Peter" uniqKey="Bauer P" first="Peter" last="Bauer">Peter Bauer</name><name sortKey="Dressler, Dirk" sort="Dressler, Dirk" uniqKey="Dressler D" first="Dirk" last="Dressler">Dirk Dressler</name><name sortKey="Laubis Errmann, Ulrike" sort="Laubis Errmann, Ulrike" uniqKey="Laubis Errmann U" first="Ulrike" last="Laubis-Herrmann">Ulrike Laubis-Herrmann</name><name sortKey="Riess, Olaf" sort="Riess, Olaf" uniqKey="Riess O" first="Olaf" last="Riess">Olaf Riess</name><name sortKey="Schols, Ludger" sort="Schols, Ludger" uniqKey="Schols L" first="Ludger" last="Schöls">Ludger Schöls</name><name sortKey="Schulte, Thorsten" sort="Schulte, Thorsten" uniqKey="Schulte T" first="Thorsten" last="Schulte">Thorsten Schulte</name><name sortKey="Stuhrmann, Manfred" sort="Stuhrmann, Manfred" uniqKey="Stuhrmann M" first="Manfred" last="Stuhrmann">Manfred Stuhrmann</name><name sortKey="Topka, Helge" sort="Topka, Helge" uniqKey="Topka H" first="Helge" last="Topka">Helge Topka</name><name sortKey="Vollmer Aase, Juliane" sort="Vollmer Aase, Juliane" uniqKey="Vollmer Aase J" first="Juliane" last="Vollmer-Haase">Juliane Vollmer-Haase</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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