The ovarioleukodystrophy

S. Mathis; G.C. Scheper; N. Baumann; E. Petit; R. Gil; M.S. van der Knaap; J.P. Neau

doi:https://doi.org/10.1016/j.clineuro.2008.06.002

The ovarioleukodystrophy

S. Mathis, G.C. Scheper, N. Baumann, E. Petit, R. Gil, M.S. van der Knaap, J.P. Neau

Research output: Contribution to journal › Article › Academic › peer-review

17 Citations (Scopus)

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. (C) 2008 Elsevier B.V. All rights reserved

Original language	Undefined/Unknown
Pages (from-to)	1035-1037
Journal	Clinical Neurology and Neurosurgery
Volume	110
Issue number	10
DOIs	https://doi.org/10.1016/j.clineuro.2008.06.002
Publication status	Published - 2008

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https://doi.org/10.1016/j.clineuro.2008.06.002

Cite this

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T1 - The ovarioleukodystrophy

AU - Mathis, S.

AU - Scheper, G.C.

AU - Baumann, N.

AU - Petit, E.

AU - Gil, R.

AU - van der Knaap, M.S.

AU - Neau, J.P.

PY - 2008

Y1 - 2008

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AB - 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. (C) 2008 Elsevier B.V. All rights reserved

U2 - https://doi.org/10.1016/j.clineuro.2008.06.002

DO - https://doi.org/10.1016/j.clineuro.2008.06.002

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