title: Arg113His mutation in eIF2Bepsilon as cause of leukoencephalopathy in adults.
abstract: Vanishing white matter is a leukoencephalopathy that usually affects young children. Five genes were found recently for this disease, allowing a DNA-based diagnosis. The authors describe six patients homozygous for the Arg113His mutation in eIF2Bepsilon. Only one had a childhood onset; four had a later onset and a protracted disease course; one adult still has no symptoms. Our data suggest that the Arg113His mutation is particularly mild and should be considered in the differential diagnosis of adult diffuse leukoencephalopathies, independent of whether there are associated clinical signs, an episodic course, or MRI shows white matter rarefaction/cystic degeneration.
authors.affiliation: Department of Child Neurology, Free University Medical Center, Amsterdam, The Netherlands. ms.vanderknaap@vumc.nl
authors.forename: M S
authors.initials: MS
authors.lastname: van der Knaap
authors.forename: P A J
authors.initials: PA
authors.lastname: Leegwater
authors.forename: C G M
authors.initials: CG
authors.lastname: van Berkel
authors.forename: C
authors.initials: C
authors.lastname: Brenner
authors.forename: E
authors.initials: E
authors.lastname: Storey
authors.forename: M
authors.initials: M
authors.lastname: Di Rocco
authors.forename: F
authors.initials: F
authors.lastname: Salvi
authors.forename: J C
authors.initials: JC
authors.lastname: Pronk
mesh_terms: D000328:Adult; D001120:Arginine / Q000235:genetics*; D001921:Brain / Q000473:pathology*; D001927:Brain Diseases / Q000235:genetics* / Q000473:pathology; D004252:DNA Mutational Analysis; D003711:Demyelinating Diseases / Q000235:genetics* / Q000473:pathology; D018450:Disease Progression; D020717:Eukaryotic Initiation Factor-2B / Q000235:genetics*; D005260:Female; D005500:Follow-Up Studies; D006639:Histidine / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D009154:Mutation
chemical_list: D020717:Eukaryotic Initiation Factor-2B; D006639:Histidine; D001120:Arginine