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[Vanishing white matter disease, a rare leukodystrophy with mutation in the EIF2B5 gene].

Ideggyogyaszati szemle - 30 May 2024

Sinkó Gabriella, Tompa Márton, Kiss Zsuzsanna, Kálmán Bernadette

Abstract excerpt

<p style="text-align: justify;"><strong>Background -</strong> Leukodystrophies, a heterogeneous group of brain and spinal cord disorders, often pose challenges in establishing molecular etiology. Vanishing White Matter Disease (VWMD) is a rare subtype of leukodystrophies presenting with characteristic clinical and MRI features,...

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Identifiers

PMID: 38829246
DOI: 10.18071/isz.77.0207

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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[Vanishing white matter disease, a rare leukodystrophy with mutation in the EIF2B5 gene].PMID 38829246Read ↗

The spectrum of mutations for the diagnosis of vanishing white matter disease.Semantic proximity Read ↗

A novel missense variant in EIF2B5 identified in a consanguineous Iranian family with vanishing white matter disease and a brief review of the literature.Semantic proximity Read ↗

Vanishing white matter disease: a review with focus on its genetics.Semantic proximity Read ↗

Adult-onset leukodystrophy with vanishing white matter: a case series of 19 patients.Semantic proximity Read ↗

Genetic screening of EIF2B genes reveals mutation spectrum and predicted prevalence of vanishing white matter disease in Chinese population.Semantic proximity Read ↗

Vanishing white matter disease associated with progressive macrocephaly.Semantic proximity Read ↗

Adult Vanishing White Matter Disease with a Novel EIF2B4 Mutation.Semantic proximity Read ↗

Leukoencephalopathy with vanishing white matter: from magnetic resonance imaging pattern to five genes.Semantic proximity Read ↗

Adult-onset leukoencephalopathy with vanishing white matter with compound heterozygous EIF2B3 gene variantsSemantic proximity Read ↗

A Rare Case of Adult-Onset Vanishing White Matter Leukoencephalopathy With Movement DisorderSemantic proximity Read ↗

An unmasked mutation of EIF2B2 due to submicroscopic deletion of 14q24.3 in a patient with vanishing white matter disease.Semantic proximity Read ↗

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