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Updated: Jul 3, 2026

An In Vitro Model for the Study of Cellular Pathophysiology in Globoid Cell Leukodystrophy
Published on: October 21, 2014
The ovarioleukodystrophy
Stéphane Mathis1, Gert C Scheper, Nicole Baumann
1University of Poitiers, CHU Poitiers, Department of Neurology, 2 rue de La Milétrie, 86021 Poitiers cedex 05, France.
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.
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