title: Leucoencephalopathy with vanishing white matter may cause progressive myoclonus epilepsy.
abstract: Leucoencephalopathy with vanishing white matter (VWM) is caused by mutations in the genes encoding for one of the five subunits that constitute the eukaryotic initiation factor 2B (eIF2B), and is characterized by a highly suggestive MRI pattern indicating vanishing of the cerebral white matter. Seizures are well known to occur in VWM disease, but usually do not represent a prominent feature. We report a 40-year-old man who was diagnosed with progressive myoclonus epilepsy in his twenties. All major causes of progressive myoclonus epilepsy (PME) were excluded. Brain MRI showed extensive white matter involvement. Mutation analysis of the EIF2B5 gene revealed a homozygous c.338G>A (p.Arg113His) mutation.
authors.affiliation: Neurogenetics Unit, Montreal Neurological Hospital and Institute, Montreal, Canada. anna.jansen@uzbrussel.be
authors.forename: An C
authors.initials: AC
authors.lastname: Jansen
authors.forename: Eva
authors.initials: E
authors.lastname: Andermann
authors.forename: Florence
authors.initials: F
authors.lastname: Niel
authors.forename: Isabelle
authors.initials: I
authors.lastname: Creveaux
authors.forename: Odile
authors.initials: O
authors.lastname: Boespflug-Tanguy
authors.forename: Frederick
authors.initials: F
authors.lastname: Andermann
mesh_terms: D000328:Adult; D001259:Ataxia / Q000235:genetics / Q000473:pathology; D001921:Brain / Q000473:pathology; D003711:Demyelinating Diseases / Q000235:genetics* / Q000473:pathology; D004831:Epilepsies, Myoclonic / Q000235:genetics* / Q000473:pathology; D020717:Eukaryotic Initiation Factor-2B / Q000235:genetics*; D006801:Humans; D008279:Magnetic Resonance Imaging / Q000706:statistics & numerical data; D008297:Male; D009154:Mutation / Q000235:genetics*
chemical_list: D020717:Eukaryotic Initiation Factor-2B