title: The spectrum of mutations for the diagnosis of vanishing white matter disease.
abstract: Vanishing white matter disease (VWM; MIM #603896), also known as childhood ataxia with central nervous system hypomyelination (CACH) syndrome, is an autosomal recessive transmitted leukoencephalopathy related to mutations in each of the 5 genes (EIF2B1, EIF2B2, EIF2B3, EIF2B4 and EIF2B5) encoding for the 5 subunits of eukaryotic translation initiation factor 2B (eIF2B), essential for protein synthesis. VWM is characterised by ataxia, spasticity, variable optic atrophy and intermittent episodes of acute regression of clinical and neurological status. Another key step in diagnosis, besides clinical picture and gene sequencing, is magnetic resonance imaging (MRI), which typically shows a progressive rarefaction of the brain white matter, and its replacement by cerebrospinal fluid (CSF). In the present paper we summarise the up-to-date knowledge about VWM and include the full list of known mutations.
authors.affiliation: Dipartimento di Scienze Neurologiche e del Comportamento, Facoltà di Medicina e Chirurgia, Università degli studi di Siena, Viale Bracci 2, I-53100, Siena, Italy.
authors.forename: O
authors.initials: O
authors.lastname: Scali
authors.forename: C
authors.initials: C
authors.lastname: Di Perri
authors.forename: A
authors.initials: A
authors.lastname: Federico
mesh_terms: D001927:Brain Diseases / Q000235:genetics* / Q000473:pathology*; D020717:Eukaryotic Initiation Factor-2B / Q000235:genetics*; D020279:Hereditary Central Nervous System Demyelinating Diseases / Q000235:genetics* / Q000473:pathology*; D006801:Humans; D008279:Magnetic Resonance Imaging; D008954:Models, Biological; D009154:Mutation
chemical_list: D020717:Eukaryotic Initiation Factor-2B