title: Lack of mutations in the epsilon-sarcoglycan gene in patients with different subtypes of primary dystonias.
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.
authors.affiliation: Department of Medical Genetics, University of Tübingen, Tübingen, Germany. kathrin.grundmann@onlinehome.de
authors.forename: Kathrin
authors.initials: K
authors.lastname: Grundmann
authors.forename: Ulrike
authors.initials: U
authors.lastname: Laubis-Herrmann
authors.forename: Dirk
authors.initials: D
authors.lastname: Dressler
authors.forename: Juliane
authors.initials: J
authors.lastname: Vollmer-Haase
authors.forename: Peter
authors.initials: P
authors.lastname: Bauer
authors.forename: Manfred
authors.initials: M
authors.lastname: Stuhrmann
authors.forename: Thorsten
authors.initials: T
authors.lastname: Schulte
authors.forename: Ludger
authors.initials: L
authors.lastname: Schöls
authors.forename: Helge
authors.initials: H
authors.lastname: Topka
authors.forename: Olaf
authors.initials: O
authors.lastname: Riess
mesh_terms: D000328:Adult; D004252:DNA Mutational Analysis; D004421:Dystonia / Q000145:classification / Q000235:genetics*; D005091:Exons / Q000235:genetics; D005260:Female; D006801:Humans; D007438:Introns / Q000235:genetics; D008297:Male; D008875:Middle Aged; D009207:Myoclonus / Q000145:classification / Q000235:genetics*; D010641:Phenotype; D016133:Polymerase Chain Reaction; D049031:Sarcoglycans / Q000235:genetics*
chemical_list: D049031:Sarcoglycans