title: The ovarioleukodystrophy.
abstract: The "ovarioleukodystrophies" comprise a group of rare leukodystrophies associated with primary or premature ovarian failure. Some of the patients have a variant of "vanishing white matter disease" with mutations in subunits of eukaryotic initiation factor 2B (EIF2B). A 32-year-old woman who developed neurological signs related to an extensive leukoencephalopathy on magnetic resonance imaging (MRI) in the context of amenorrhea since the age of 18 years was found to be homozygous for a mutation in the EIF2B5 gene: c.338G>A/p.Arg113His. She had a progressive disease with development of tetraparesia in less than 6 years. Our observation confirms that ovarian failure in the context of a leukodystrophy warrants mutational analysis of the genes encoding the subunits of EIF2B.
authors.affiliation: University of Poitiers, CHU Poitiers, Department of Neurology, 2 rue de La Milétrie, 86021 Poitiers cedex 05, France.
authors.forename: Stéphane
authors.initials: S
authors.lastname: Mathis
authors.forename: Gert C
authors.initials: GC
authors.lastname: Scheper
authors.forename: Nicole
authors.initials: N
authors.lastname: Baumann
authors.forename: Elodie
authors.initials: E
authors.lastname: Petit
authors.forename: Roger
authors.initials: R
authors.lastname: Gil
authors.forename: Marjo S
authors.initials: MS
authors.lastname: van der Knaap
authors.forename: Jean-Philippe
authors.initials: JP
authors.lastname: Neau
mesh_terms: D000328:Adult; D000568:Amenorrhea / Q000209:etiology; D001927:Brain Diseases / Q000150:complications / Q000235:genetics / Q000473:pathology*; D004252:DNA Mutational Analysis; D020717:Eukaryotic Initiation Factor-2B / Q000235:genetics*; D005260:Female; D020279:Hereditary Central Nervous System Demyelinating Diseases / Q000150:complications / Q000235:genetics / Q000473:pathology; D006801:Humans; D009154:Mutation; D016649:Primary Ovarian Insufficiency / Q000150:complications / Q000235:genetics / Q000473:pathology*
chemical_list: D020717:Eukaryotic Initiation Factor-2B