Hereditary myoclonus-dystonia associated with epilepsy.
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.
Foncke
E M J
EM
Department of Neurology, Academic Medical Centre, University of Amsterdam, The Netherlands.
Klein
C
C
Koelman
J H T M
JH
Kramer
P L
PL
Schilling
K
K
Müller
B
B
Garrels
J
J
de Carvalho Aguiar
P
P
Liu
L
L
de Froe
A
A
Speelman
J D
JD
Ozelius
L J
LJ
Tijssen
M A J
MA
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
D003598:Cytoskeletal Proteins; D008562:Membrane Glycoproteins; D049031:Sarcoglycans