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Article

Ovarioleukodystrophy due to EIF2B5 mutations.

Practical neurology - 1 Dec 2016

Ibitoye R T, Renowden S A, Faulkner H J, Scolding N J, Rice C M

Abstract excerpt

Ovarioleukodystrophy-the co-occurrence of leukodystrophy and premature ovarian failure-is a rare presentation now recognised to be part of the clinical spectrum of vanishing white matter disease. We describe a woman with epilepsy and neuroimaging changes consistent with leukoencephalopathy who presented with non-convulsive status epilepticus after starting hormone replacement therapy in the context of premature...

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Identifiers

PMID: 27651498
DOI: 10.1136/practneurol-2016-001382

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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