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Lack of mutations in the epsilon‐sarcoglycan gene in patients with different subtypes of primary dystonias
Author(s) -
Grundmann Kathrin,
LaubisHerrmann Ulrike,
Dressler Dirk,
VollmerHaase Juliane,
Bauer Peter,
Stuhrmann Manfred,
Schulte Thorsten,
Schöls Ludger,
Topka Helge,
Riess Olaf
Publication year - 2004
Publication title -
movement disorders
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.352
H-Index - 198
eISSN - 1531-8257
pISSN - 0885-3185
DOI - 10.1002/mds.20128
Subject(s) - dystonia , mutation , genetics , gene , myoclonus , biology , gene mutation , phenotype , coding region , neuroscience
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