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.
Publication types
-
Research Support, Non-U.S. Gov't
-
Research Support, U.S. Gov't, P.H.S.
MeSH terms
-
Adult
-
Amnesia / etiology
-
Brain / pathology
-
Brain / physiopathology
-
Chromosomes, Human, Pair 18 / genetics
-
Cytoskeletal Proteins / deficiency
-
Cytoskeletal Proteins / genetics*
-
Cytoskeletal Proteins / physiology
-
Dystonic Disorders / genetics*
-
Dystonic Disorders / physiopathology
-
Electroencephalography
-
Epilepsies, Myoclonic / genetics*
-
Epilepsies, Myoclonic / physiopathology
-
Epilepsy, Complex Partial / genetics
-
Exons / genetics
-
Female
-
Frameshift Mutation*
-
Genes, Dominant
-
Genetic Heterogeneity
-
Genotype
-
Haplotypes / genetics
-
Humans
-
Lod Score
-
Magnetic Resonance Imaging
-
Male
-
Membrane Glycoproteins / deficiency
-
Membrane Glycoproteins / genetics*
-
Membrane Glycoproteins / physiology
-
Mutagenesis, Insertional
-
Netherlands
-
Pedigree
-
Sarcoglycans
Substances
-
Cytoskeletal Proteins
-
Membrane Glycoproteins
-
Sarcoglycans