The ovarioleukodystrophy.
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.
Mathis
Stéphane
S
University of Poitiers, CHU Poitiers, Department of Neurology, 2 rue de La Milétrie, 86021 Poitiers cedex 05, France.
Scheper
Gert C
GC
Baumann
Nicole
N
Petit
Elodie
E
Gil
Roger
R
van der Knaap
Marjo S
MS
Neau
Jean-Philippe
JP
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*
D020717:Eukaryotic Initiation Factor-2B