Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

An eleven-year history of Vanishing White Matter Disease in an adult patient with no cognitive decline and EIF2B5 mutations. A case report.

Neurocase - 1 Dec 2021

Trevisan Lucia, Grazzini Matteo, Cianflone Annalia, Accogli Andrea, Finocchi Cinzia, Capello Elisabetta, Saitta Laura, Grandis Marina, Roccatagliata Luca, Mandich Paola

Abstract excerpt

Vanishing White Matter Disease (VWMD) is a rare autosomal recessive leukoencephalopathy . The classical presentation is characterized by a severe cerebellar ataxia, spasticity, neurological deterioration with a chronic progressive course and episodes of acute neurological deterioration after stress conditions.We report a 52-year-old man with VWMD and atypical features who manifested two major events of transient...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Eukaryotic Initiation Factor-2B
Share to Leukoencephalopathies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Magnetic Resonance Imaging

Share to Mutation

Share to White Matter

Source

Identifiers

PMID: 34751098
DOI: 10.1080/13554794.2021.1999984

Provenance

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

An eleven-year history of Vanishing White Matter Disease in an adult patient with no cognitive decline and EIF2B5 mutations. A case report.PMID 34751098Read ↗

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

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

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

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

Vanishing white matter disease.Semantic proximity Read ↗

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

A 66-year-old patient with vanishing white matter disease due to the p.Ala87Val EIF2B3 mutation.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 with a novel EIF2B5 mutation: A 10-year follow-up.Semantic proximity Read ↗

Vanishing white matter disease: an Italian case with A638G mutation in exon 5 of EIF2B2 gene, an unusual early onset and a long course.Semantic proximity Read ↗

Adult-onset vanishing white matter in a patient with EIF2B3 variants misdiagnosed as multiple sclerosis.Semantic proximity Read ↗

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

⌁Select a neighboring publication to make it the new centre.