title: Severe myoclonus-dystonia syndrome associated with a novel epsilon-sarcoglycan gene truncating mutation.
abstract: Myoclonus-dystonia syndrome (MDS) is an autosomal dominant disorder characterized by myoclonic and dystonic muscle contractions, associated with psychiatric manifestations. MDS is usually considered as a benign disease. In most of the families, MDS is linked to chromosome 7q21 and mutations within epsilon-sarcoglycan (SGCE) gene have been recently described. We report a MDS family with a severe and heterogeneous phenotype, including myoclonus with important functional impact and several psychiatric features, characterized by obsessive-compulsive disorder, depression, and anxiety. This phenotype was shown to be associated with a novel truncating mutation located within exon 4 of SGCE.
authors.affiliation: Département de Neurologie, CHU de Rouen and INSERM EMI 9906, IFRMP, Faculté de Médecine et de Pharmacie, France.
authors.forename: Lucie
authors.initials: L
authors.lastname: Maréchal
authors.forename: Grégory
authors.initials: G
authors.lastname: Raux
authors.forename: Cécile
authors.initials: C
authors.lastname: Dumanchin
authors.forename: Guillaume
authors.initials: G
authors.lastname: Lefebvre
authors.forename: Emmanuelle
authors.initials: E
authors.lastname: Deslandre
authors.forename: Carole
authors.initials: C
authors.lastname: Girard
authors.forename: Dominique
authors.initials: D
authors.lastname: Campion
authors.forename: Dominique
authors.initials: D
authors.lastname: Parain
authors.forename: Thierry
authors.initials: T
authors.lastname: Frebourg
authors.forename: Didier
authors.initials: D
authors.lastname: Hannequin
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D002675:Child, Preschool; D018389:Codon, Nonsense; D003598:Cytoskeletal Proteins / Q000235:genetics*; D004252:DNA Mutational Analysis; D020821:Dystonic Disorders / Q000235:genetics*; D005091:Exons; D005192:Family Health; D005260:Female; D006801:Humans; D008297:Male; D008562:Membrane Glycoproteins / Q000235:genetics*; D008875:Middle Aged; D009207:Myoclonus / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D049031:Sarcoglycans; D013577:Syndrome
chemical_list: D018389:Codon, Nonsense; D003598:Cytoskeletal Proteins; D008562:Membrane Glycoproteins; D049031:Sarcoglycans