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

Leukodystrophy Due to eIF2B Mutations in Adults.

The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques - 1 Sept 2022

Shivaram Sumanth, Nagappa Madhu, Seshagiri Doniparthi Venkata, Saini Jitender, Govindaraj Periyasamy, Sinha Sanjib, Bindu Parayil Sankaran, Taly Arun B

Abstract excerpt

Vanishing white matter disease (VWMD) due to eIF2B mutations is a common leukodystrophy characterised by childhood onset, autosomal recessive inheritance, and progressive clinical course with episodic worsening. There are no reports of genetically confirmed adult patients from India. We describe the phenotype of two adults with genetically confirmed VWMD and typical radiological findings. Both had spastic ataxia...

Read the complete abstract on PubMed

Topics

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

Share to Phenotype
Share to Demyelinating Diseases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Eukaryotic Initiation Factor-2B

Share to Leukoencephalopathies

Share to Mutation

Share to Neurodegenerative Diseases

Source

Identifiers

PMID: 34663487
DOI: 10.1017/cjn.2021.202

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

Leukodystrophy Due to eIF2B Mutations in Adults.PMID 34663487Read ↗

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

Vanishing white matter disease caused by EIF2B2 mutation with the presentation of an adrenoleukodystrophy phenotype.Semantic proximity Read ↗

Leukoencephalopathy with vanishing white matter due to homozygous EIF2B2 gene mutation. First Polish cases.Semantic proximity Read ↗

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

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

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

EIF2B2 gene mutation causing early onset vanishing white matter disease: a case report.Semantic proximity Read ↗

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

Identification of ten novel mutations in patients with eIF2B-related disorders.Semantic proximity Read ↗

A 66-year-old patient with vanishing white matter disease due to the p.Ala87Val EIF2B3 mutation.Semantic proximity Read ↗

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

Vanishing white matter disease with mutations in EIF2B5 gene.Semantic proximity Read ↗

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