title: A 66-year-old patient with vanishing white matter disease due to the p.Ala87Val EIF2B3 mutation.
abstract: Vanishing white matter (VWM; OMIM # 603896) is one of the most prevalent inherited childhood leukoencephalopathies. It has, however, become evident that VWM has a wider clinical spectrum, with age at onset inversely related to clinical severity. Many affected women experience a combination of leukoencephalopathy and primary amenorrhea or premature ovarian failure, a condition named ovarioleukodystrophy. Mutations in any of the genes encoding the 5 subunits of the Eukaryotic Initiation Factor 2B gene (EIF2B1, 2, 3, 4, and 5) can independently cause VWM.(1).
authors.affiliation: Department of Neurological Sciences, University of Milan, Fondazione Cà Granda, IRCCS Ospedale Policlinico, Milan, Italy. lauraghezzi@me.com
authors.forename: Laura
authors.initials: L
authors.lastname: Ghezzi
authors.forename: Elio
authors.initials: E
authors.lastname: Scarpini
authors.forename: Mario
authors.initials: M
authors.lastname: Rango
authors.forename: Andrea
authors.initials: A
authors.lastname: Arighi
authors.forename: Maria Teresa
authors.initials: MT
authors.lastname: Bassi
authors.forename: Erika
authors.initials: E
authors.lastname: Tenderini
authors.forename: Milena
authors.initials: M
authors.lastname: De Riz
authors.forename: Francesca
authors.initials: F
authors.lastname: Jacini
authors.forename: Giorgio G
authors.initials: GG
authors.lastname: Fumagalli
authors.forename: Anna M
authors.initials: AM
authors.lastname: Pietroboni
authors.forename: Daniela
authors.initials: D
authors.lastname: Galimberti
authors.forename: Nereo
authors.initials: N
authors.lastname: Bresolin
mesh_terms: D000368:Aged; D000409:Alanine / Q000235:genetics*; D020717:Eukaryotic Initiation Factor-2B / Q000235:genetics*; D005260:Female; D006801:Humans; D056784:Leukoencephalopathies / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D014633:Valine / Q000235:genetics*
chemical_list: D020717:Eukaryotic Initiation Factor-2B; D014633:Valine; D000409:Alanine