Childhood Ataxia with Central Nervous System Hypomyelinization
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
In seven patients, we report for the first time mutations in three of the five EIF2B genes (EIF2B2, -4, and -5) that were recently shown to cause childhood ataxia with central nervous system hypomyelination/vanishing white-matter disease leukodystrophy.
|
12707859 |
2003 |
Childhood Ataxia with Central Nervous System Hypomyelinization
|
0.900 |
AlteredExpression
|
disease |
BEFREE |
This heightened stress response observed in primary fibroblasts that suffer from minor loss of basal eIF2B activity may be employed as an initial screening tool for CACH/VWM leukodystrophy.
|
16041584 |
2005 |
Childhood Ataxia with Central Nervous System Hypomyelinization
|
0.900 |
Biomarker
|
disease |
MGD |
Astrocytes are central in the pathomechanisms of vanishing white matter.
|
26974157 |
2016 |
Childhood Ataxia with Central Nervous System Hypomyelinization
|
0.900 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Vanishing white matter disease in a spanish population.
|
25089094 |
2014 |
Childhood Ataxia with Central Nervous System Hypomyelinization
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
Identification of ten novel mutations in patients with eIF2B-related disorders.
|
15776425 |
2005 |
Childhood Ataxia with Central Nervous System Hypomyelinization
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Vanishing white matter disease (VWM; MIM #603896), also known as childhood ataxia with central nervous system hypomyelination (CACH) syndrome, is an autosomal recessive transmitted leukoencephalopathy related to mutations in each of the 5 genes (EIF2B1, EIF2B2, EIF2B3, EIF2B4 and EIF2B5) encoding for the 5 subunits of eukaryotic translation initiation factor 2B (eIF2B), essential for protein synthesis.
|
16998732 |
2006 |
Childhood Ataxia with Central Nervous System Hypomyelinization
|
0.900 |
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
|
0.900 |
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
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
The genes encoding all five subunits of eukaryotic translation initiation factor 2B (EIF2B) were analyzed in patients, who were tentatively diagnosed with VWM, by Sanger sequencing.
|
25843247 |
2015 |
Childhood Ataxia with Central Nervous System Hypomyelinization
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Subunits of the translation initiation factor eIF2B are mutant in leukoencephalopathy with vanishing white matter.
|
11704758 |
2001 |
Childhood Ataxia with Central Nervous System Hypomyelinization
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Leukoencephalopathy with vanishing white matter (VWM), also called childhood ataxia with central nervous system hypomyelination (CACH), is an autosomal recessive disease caused by mutations in any of the five genes encoding subunits of the eukaryotic translation initiation factor eIF2B.
|
16823698 |
2006 |
Childhood Ataxia with Central Nervous System Hypomyelinization
|
0.900 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
In seven patients, we report for the first time mutations in three of the five EIF2B genes (EIF2B2, -4, and -5) that were recently shown to cause childhood ataxia with central nervous system hypomyelination/vanishing white-matter disease leukodystrophy.
|
12707859 |
2003 |
Childhood Ataxia with Central Nervous System Hypomyelinization
|
0.900 |
Biomarker
|
disease |
BEFREE |
Mutations in each of the five subunits of translation initiation factor eIF2B can cause leukoencephalopathy with vanishing white matter.
|
11835386 |
2002 |
Childhood Ataxia with Central Nervous System Hypomyelinization
|
0.900 |
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
|
0.900 |
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
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Childhood ataxia with central nervous system hypomyelination (CACH), or vanishing white matter leukoencephalopathy (VWM), is a fatal brain disorder caused by mutations in eukaryotic initiation factor 2B (eIF2B). eIF2B is essential for protein synthesis and regulates translation in response to cellular stresses.
|
14993275 |
2004 |
Childhood Ataxia with Central Nervous System Hypomyelinization
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Here we have established cell cultures from the brain of an individual with VWM carrying mutations in subunit 5 of eIF2B (encoded by EIF2B5).
|
15723074 |
2005 |
Childhood Ataxia with Central Nervous System Hypomyelinization
|
0.900 |
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
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
A unique EIF2B mutation spectrum in Chinese VWM patients was shown.
|
19158808 |
2009 |
Childhood Ataxia with Central Nervous System Hypomyelinization
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Mutations in each of the five eucaryotic initiation factor 2B (eIF2B) subunits have been found in leukodystrophies of various severity: Cree leukoencephalopathy, childhood ataxia with central hypomyelination/leukodystrophy with vanishing white matter and ovarioleukodystrophy.
|
15054402 |
2004 |
Childhood Ataxia with Central Nervous System Hypomyelinization
|
0.900 |
Biomarker
|
disease |
BEFREE |
The importance of correct control of eIF2 and eIF2B for normal physiology is underlined by the recent involvement of the five genes that encode the five eIF2B subunits in a severe autosomal recessive neurodegenerative disease, described in young children as CACH (childhood ataxia with central nervous system hypomyelination)/VWM (leukoencephalopathy with vanishing white matter) syndrome.
|
16246171 |
2006 |
Childhood Ataxia with Central Nervous System Hypomyelinization
|
0.900 |
Biomarker
|
disease |
BEFREE |
Vanishing white matter disease (VWM) is a progressive cavitating disease of central white matter due to a deficiency of the translation initiation factor eIF2B.
|
15217090 |
2004 |
Childhood Ataxia with Central Nervous System Hypomyelinization
|
0.900 |
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 |
Childhood Ataxia with Central Nervous System Hypomyelinization
|
0.900 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A practical approach to diagnosing adult onset leukodystrophies.
|
24357685 |
2014 |
Childhood Ataxia with Central Nervous System Hypomyelinization
|
0.900 |
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 |