Childhood Ataxia with Central Nervous System Hypomyelinization
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
EIF2B1-5 genes encoding five subunits of eukaryotic translation initiation factor 2B (eIF2B) were analyzed in all patients with clinically suspected VWM disease.
|
31385086 |
2020 |
Childhood Ataxia with Central Nervous System Hypomyelinization
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Vanishing white matter disease (VWM) is an autosomal recessive neurological disorder caused by mutation(s) in any subunit of eukaryotic translation initiation factor 2B (eIF2B), an activator of translation initiation factor eIF2.
|
31587290 |
2019 |
Childhood Ataxia with Central Nervous System Hypomyelinization
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Vanishing white matter (VWM) disease (OMIM#306896) is an autosomal recessive neurodegenerative leukodystrophy caused by hypomorphic mutations in any of the five genes encoding the subunits of eukaryotic translation initiation factor 2B (eIF2B).
|
31134486 |
2019 |
Childhood Ataxia with Central Nervous System Hypomyelinization
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Vanishing white matter disease (VWM) is an inherited leukoencephalopathy in children attributed to mutations in EIF2B1-5, encoding five subunits of eukaryotic translation initiation factor 2B (eIF2B).
|
30720246 |
2019 |
Childhood Ataxia with Central Nervous System Hypomyelinization
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Vanishing white matter (VWM) disease is an autosomal genetic leukodystrophy caused by mutations in subunits of eukaryotic translation initiation factor 2B (eIF2B).
|
30279648 |
2018 |
Childhood Ataxia with Central Nervous System Hypomyelinization
|
0.800 |
Biomarker
|
disease |
BEFREE |
Further dissection of the signaling network associated with eIF2B function will help generating therapeutic strategies for VWM disease and possibly other neurodegenerative disorders.
|
28306143 |
2017 |
Childhood Ataxia with Central Nervous System Hypomyelinization
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Postmortem Whole Exome Sequencing Identifies Novel EIF2B3 Mutation With Prenatal Phenotype in 2 Siblings.
|
28597716 |
2017 |
Childhood Ataxia with Central Nervous System Hypomyelinization
|
0.800 |
Biomarker
|
disease |
BEFREE |
There is sufficient evidence suggesting role of eukaryotic translation initiation factor 2B (EIF2B) gene family encoding the five subunits of eIF2B complex-α, β, γ, δ and ε respectively, in causing vanishing white matter (VWM) disease of the brain.
|
28093708 |
2017 |
Childhood Ataxia with Central Nervous System Hypomyelinization
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
This study expanded the clinical and genetic spectrum of VWM with EIF2B2 variants.
|
28041799 |
2017 |
Childhood Ataxia with Central Nervous System Hypomyelinization
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Whole exome sequencing in patients with white matter abnormalities.
|
27159321 |
2016 |
Childhood Ataxia with Central Nervous System Hypomyelinization
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
It is already known that alterations in Eukaryotic Translation Initiation Factor 2B (EIF2B) gene encoding the five subunits of eIF2B complex cause Vanishing White Matter (VWM) disease of the brain and emerging evidences have advocated certain resemblances between MS and VWM in terms of clinical and epidemiological characteristics, thus validating the association study between EIF2B and MS.
|
26671108 |
2015 |
Childhood Ataxia with Central Nervous System Hypomyelinization
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies.
|
25655951 |
2015 |
Childhood Ataxia with Central Nervous System Hypomyelinization
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Among them, one mutation (p.V83E) in the subunit 2 (EIF2B2) was recurrently identified in three alleles, indicating the most common mutation in Japanese patients with VWM.
|
25843247 |
2015 |
Childhood Ataxia with Central Nervous System Hypomyelinization
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Efficient detection of frequent eIF2B mutations for the rapid molecular diagnosis of CACH/VWM syndrome.
|
26162493 |
2015 |
Childhood Ataxia with Central Nervous System Hypomyelinization
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A practical approach to diagnosing adult onset leukodystrophies.
|
24357685 |
2014 |
Childhood Ataxia with Central Nervous System Hypomyelinization
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Vanishing white matter disease: an Italian case with A638G mutation in exon 5 of EIF2B2 gene, an unusual early onset and a long course.
|
22729508 |
2013 |
Childhood Ataxia with Central Nervous System Hypomyelinization
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Vanishing white matter disease caused by EIF2B2 mutation with the presentation of an adrenoleukodystrophy phenotype.
|
22285377 |
2012 |
Childhood Ataxia with Central Nervous System Hypomyelinization
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
An unmasked mutation of EIF2B2 due to submicroscopic deletion of 14q24.3 in a patient with vanishing white matter disease.
|
22678813 |
2012 |
Childhood Ataxia with Central Nervous System Hypomyelinization
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Characteristics of early MRI in children and adolescents with vanishing white matter.
|
22430157 |
2012 |
Childhood Ataxia with Central Nervous System Hypomyelinization
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Adult-onset leukoencephalopathies with vanishing white matter with novel missense mutations in EIF2B2, EIF2B3, and EIF2B5.
|
21484434 |
2011 |
Childhood Ataxia with Central Nervous System Hypomyelinization
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Severity of vanishing white matter disease does not correlate with deficits in eIF2B activity or the integrity of eIF2B complexes.
|
21560189 |
2011 |
Childhood Ataxia with Central Nervous System Hypomyelinization
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The typical MRI pattern with a diffuse CSF-like aspect of the cerebral white matter can lack particularly in the adult forms whereas an increasing number of patients with clinical and MRI criteria for CACH/VWM disease but without eIF2B mutations are found.
|
20016818 |
2009 |
Childhood Ataxia with Central Nervous System Hypomyelinization
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A unique EIF2B mutation spectrum in Chinese VWM patients was shown.
|
19158808 |
2009 |
Childhood Ataxia with Central Nervous System Hypomyelinization
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Genetic and clinical heterogeneity in eIF2B-related disorder.
|
18263758 |
2008 |
Childhood Ataxia with Central Nervous System Hypomyelinization
|
0.800 |
Biomarker
|
disease |
BEFREE |
Mutations in eukaryotic translation initiation factor 2B (eIF2B) cause Childhood Ataxia with CNS Hypomyelination (CACH), also known as Vanishing White Matter disease (VWM).
|
19023445 |
2008 |