Lack of mutations in the epsilon-sarcoglycan gene in patients with different subtypes of primary dystonias.
Identifieur interne : 000F99 ( Ncbi/Checkpoint ); précédent : 000F98; suivant : 001000Lack of mutations in the epsilon-sarcoglycan gene in patients with different subtypes of primary dystonias.
Auteurs : Kathrin Grundmann [Allemagne] ; Ulrike Laubis-Herrmann ; Dirk Dressler ; Juliane Vollmer-Haase ; Peter Bauer ; Manfred Stuhrmann ; Thorsten Schulte ; Ludger Schöls ; Helge Topka ; Olaf RiessSource :
- Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2004.
English descriptors
- KwdEn :
- 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 epsilon-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.
DOI: 10.1002/mds.20128
PubMed: 15390016
Affiliations:
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last="Grundmann">Kathrin Grundmann</name><affiliation wicri:level="3"><nlm:affiliation>Department of Medical Genetics, University of Tübingen, Tübingen, Germany. kathrin.grundmann@onlinehome.de</nlm:affiliation><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><author><name sortKey="Laubis Herrmann, Ulrike" sort="Laubis Herrmann, Ulrike" uniqKey="Laubis Herrmann U" first="Ulrike" last="Laubis-Herrmann">Ulrike Laubis-Herrmann</name></author><author><name sortKey="Dressler, Dirk" sort="Dressler, Dirk" uniqKey="Dressler D" first="Dirk" last="Dressler">Dirk Dressler</name></author><author><name sortKey="Vollmer Haase, Juliane" sort="Vollmer Haase, Juliane" uniqKey="Vollmer Haase J" 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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></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Primary dystonias represent a clinically and genetically heterogeneous group of movement disorders. Mutations in the epsilon-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></front></TEI><affiliations><list><country><li>Allemagne</li></country><region><li>Bade-Wurtemberg</li><li>District de Tübingen</li></region><settlement><li>Tübingen</li></settlement></list><tree><noCountry><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 Herrmann, Ulrike" sort="Laubis Herrmann, Ulrike" uniqKey="Laubis Herrmann 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 Haase, Juliane" sort="Vollmer Haase, Juliane" uniqKey="Vollmer Haase J" first="Juliane" last="Vollmer-Haase">Juliane Vollmer-Haase</name></noCountry><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></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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