title: Hereditary myoclonus-dystonia associated with epilepsy.
abstract: A five-generation Dutch family with inherited myoclonus-dystonia (M-D) is described. Genetic analysis revealed a novel truncating mutation within the epsilon-sarcoglycan gene (SGCE). In three of five gene carriers, epilepsy and/or EEG abnormalities were associated with the symptoms of myoclonus and dystonia. The genetic and clinical heterogeneity of M-D is extended. EEG changes and epilepsy should not be considered exclusion criteria for the clinical diagnosis of M-D.
authors.affiliation: Department of Neurology, Academic Medical Centre, University of Amsterdam, The Netherlands.
authors.forename: E M J
authors.initials: EM
authors.lastname: Foncke
authors.forename: C
authors.initials: C
authors.lastname: Klein
authors.forename: J H T M
authors.initials: JH
authors.lastname: Koelman
authors.forename: P L
authors.initials: PL
authors.lastname: Kramer
authors.forename: K
authors.initials: K
authors.lastname: Schilling
authors.forename: B
authors.initials: B
authors.lastname: Müller
authors.forename: J
authors.initials: J
authors.lastname: Garrels
authors.forename: P
authors.initials: P
authors.lastname: de Carvalho Aguiar
authors.forename: L
authors.initials: L
authors.lastname: Liu
authors.forename: A
authors.initials: A
authors.lastname: de Froe
authors.forename: J D
authors.initials: JD
authors.lastname: Speelman
authors.forename: L J
authors.initials: LJ
authors.lastname: Ozelius
authors.forename: M A J
authors.initials: MA
authors.lastname: Tijssen
mesh_terms: D000328:Adult; D000647:Amnesia / Q000209:etiology; D001921:Brain / Q000473:pathology / Q000503:physiopathology; D002887:Chromosomes, Human, Pair 18 / Q000235:genetics; D003598:Cytoskeletal Proteins / Q000172:deficiency / Q000235:genetics* / Q000502:physiology; D020821:Dystonic Disorders / Q000235:genetics* / Q000503:physiopathology; D004569:Electroencephalography; D004831:Epilepsies, Myoclonic / Q000235:genetics* / Q000503:physiopathology; D017029:Epilepsy, Complex Partial / Q000235:genetics; D005091:Exons / Q000235:genetics; D005260:Female; D016368:Frameshift Mutation; D005799:Genes, Dominant; D018740:Genetic Heterogeneity; D005838:Genotype; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D008126:Lod Score; D008279:Magnetic Resonance Imaging; D008297:Male; D008562:Membrane Glycoproteins / Q000172:deficiency / Q000235:genetics* / Q000502:physiology; D016254:Mutagenesis, Insertional; D009426:Netherlands; D010375:Pedigree; D049031:Sarcoglycans
chemical_list: D003598:Cytoskeletal Proteins; D008562:Membrane Glycoproteins; D049031:Sarcoglycans