title: Dominant form of vanishing white matter-like leukoencephalopathy.
abstract: Leukoencephalopathy with vanishing white matter syndrome (childhood ataxia with central nervous system hypomyelination/vanishing white matter disease) is an autosomal recessive disorder characterized by the occurrence of acute episodes of deterioration after minor head trauma or infection, and symmetrical demyelination on magnetic resonance with cavitation aspects. Mutations in each of the five subunits of eIF2B have been identified. We report in an affected man and his mother an adult-onset form of childhood ataxia with central nervous system hypomyelination/vanishing white matter disease-like disorder with no mutations in the EIF2B genes and normal guanine nucleotide exchange factor eIF2B activity, suggesting a new dominant inheritance of this syndrome that may involve other genes.
authors.affiliation: Service de Neurologie, CHU Montpellier-Nîmes, Hôpital Caremeau, Nîmes, France. labauge@yahoo.fr
authors.forename: Pierre
authors.initials: P
authors.lastname: Labauge
authors.forename: Anne
authors.initials: A
authors.lastname: Fogli
authors.forename: Giovanni
authors.initials: G
authors.lastname: Castelnovo
authors.forename: Alice
authors.initials: A
authors.lastname: Le Bayon
authors.forename: Laetitia
authors.initials: L
authors.lastname: Horzinski
authors.forename: François
authors.initials: F
authors.lastname: Nicoli
authors.forename: Patrick
authors.initials: P
authors.lastname: Cozzone
authors.forename: Michel
authors.initials: M
authors.lastname: Pagès
authors.forename: Caroline
authors.initials: C
authors.lastname: Briere
authors.forename: Christiane
authors.initials: C
authors.lastname: Marty-Double
authors.forename: Olivier
authors.initials: O
authors.lastname: Delhaume
authors.forename: Antoinette
authors.initials: A
authors.lastname: Gelot
authors.forename: Odile
authors.initials: O
authors.lastname: Boespflug-Tanguy
authors.forename: Diana
authors.initials: D
authors.lastname: Rodriguez
mesh_terms: D000328:Adult; D001259:Ataxia / Q000150:complications / Q000235:genetics / Q000473:pathology*; D015140:Dementia, Vascular / Q000150:complications / Q000235:genetics / Q000473:pathology*; D020717:Eukaryotic Initiation Factor-2B / Q000235:genetics; D005260:Female; D020279:Hereditary Central Nervous System Demyelinating Diseases / Q000150:complications / Q000235:genetics / Q000473:pathology*; D006801:Humans; D008279:Magnetic Resonance Imaging / Q000379:methods; D008297:Male; D009154:Mutation
chemical_list: D020717:Eukaryotic Initiation Factor-2B