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

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

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology - 1 Jul 2013

Sambati Luisa, Agati Raffaele, Bacci Antonella, Bianchi Silvia, Capellari Sabina

Abstract excerpt

We report the clinical description of an Italian patient with c.638A>G mutation in exon 5 of EIF2B2 gene and a very slow progressive Vanishing White Matter disease phenotype. Infact, in relation to her causative mutation, our patient had an unusual early onset and long course. Furthermore, other than standard MRI examination and spectroscopy study, we report DWI and ADC maps and FA maps reconstruction from DTI in...

Read the complete abstract on PubMed

Topics

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

Share to Disease Progression
Share to Eukaryotic Initiation Factor-2B

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Leukoencephalopathies

Share to Mutation

Share to Time Factors

Source

Identifiers

PMID: 22729508
DOI: 10.1007/s10072-012-1129-3

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Vanishing white matter disease: an Italian case with A638G mutation in exon 5 of EIF2B2 gene, an unusual early onset and a long course.PMID 22729508Read ↗

Vanishing white matter disease with a novel EIF2B5 mutation: A 10-year follow-up.Semantic proximity Read ↗

Vanishing white matter disease: the first reported chinese patient.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: imaging, clinical and molecular correlation in Brazilian families.Semantic proximity Read ↗

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

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

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

[Left hemiparesis as a sign of onset of vanishing white matter disease. Identification of a new mutation].Semantic proximity Read ↗

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

Adult-onset vanishing white matter disease due to a novel EIF2B3 mutation.Semantic proximity Read ↗

Identification of novel EIF2B mutations in Chinese patients with vanishing white matter disease.Semantic proximity Read ↗

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