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Article

Adult Vanishing White Matter Disease with a Novel EIF2B4 Mutation.

Journal of the College of Physicians and Surgeons--Pakistan : JCPSP - 1 Dec 2022

Su Ting, Yuan Haijun, Gao Wei, Li Huaxin, Yuan Mei

Abstract excerpt

Vanishing white matter disease (VWMD) is an autosomal recessive genetic disease characterised by progressive loss of white matter in both cerebral hemispheres. VWMD is caused by mutations in eukaryotic translation initiation factor 2B (EIF2B). The disease typically occurs in children. Ovarioleukodystrophies disease (OLD) is a special type of adult VWMD, associated with primary ovarian insufficiency. Herein, we...

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Identifiers

PMID: 36597332
DOI: 10.29271/jcpsp.2022.Supp0.SS181

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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