|
Leukodystrophy
|
0.100 |
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 |
|
Leukodystrophy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in eIF2B genes cause vanishing white matter disease (VWMD), a fatal leukodystrophy that can manifest following physical trauma or illness, conditions that activate the integrated stress response (ISR).
|
29632131 |
2018 |
|
Leukodystrophy
|
0.100 |
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 |
|
Leukodystrophy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Hypomorphic EIF2B alleles can lead to Vanishing White Matter Disease (VWMD), a leukodystrophy that causes progressive white matter loss.
|
30115954 |
2018 |
|
Leukodystrophy
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Although eIF2B is ubiquitously expressed, VWM primarily manifests as a leukodystrophy with increasing white matter rarefaction and cystic degeneration, meager astrogliosis with no glial scarring and dysmorphic immature astrocytes and increased numbers of oligodendrocyte progenitor cells that are restrained from maturing into myelin-forming cells.
|
29740943 |
2018 |
|
Leukodystrophy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Vanishing white matter (VWM) is a fatal leukodystrophy that is caused by mutations in genes encoding subunits of eukaryotic translation initiation factor 2B (eIF2B).
|
26974157 |
2016 |
|
Leukodystrophy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Leukodystrophy with vanishing white matter (VWM) is a neurodegenerative disorder with autosomal recessive traits that is caused by alteration of the eukaryotic translation initiation factor-2B (EIF2B).
|
22678813 |
2012 |
|
Leukodystrophy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We performed a transcriptomic analysis using fibroblasts of 10 eIF2B-mutated patients with a severe phenotype and 10 age matched patients with other types of LD in comparison to control fibroblasts.
|
22737209 |
2012 |
|
Leukodystrophy
|
0.100 |
Biomarker
|
disease |
BEFREE |
CSF N-glycan profiles to investigate biomarkers in brain developmental disorders: application to leukodystrophies related to eIF2B mutations.
|
22952606 |
2012 |
|
Leukodystrophy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Eukaryotic translation initiation factor 2B (eIF2B), a guanine nucleotide exchange factor (GEF) and a key regulator of translation initiation under normal and stress conditions, causes an autosomal recessive leukodystrophy of a wide clinical spectrum.
|
20958979 |
2010 |
|
Leukodystrophy
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
We performed eIF2B GEF activity assays in cells from 63 patients presenting with different clinical forms and eIF2B mutations in comparison to controls but also to patients with defined leukodystrophies or CACH/VWM-like diseases without eIF2B mutations.
|
20016818 |
2009 |
|
Leukodystrophy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Our observation confirms that ovarian failure in the context of a leukodystrophy warrants mutational analysis of the genes encoding the subunits of EIF2B.
|
18678442 |
2008 |
|
Leukodystrophy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
This is a study estimating diagnostic accuracy of CSF asialotransferrin to transferrin ratio measurement in eIF2B related disorders by using clinical evaluation and EIF2B mutation analysis as the reference standard. eIF2B-related disorder is a relatively common leukodystrophy with broad phenotypic variation that is caused by mutations in any of the five EIF2B genes.
|
18519871 |
2008 |
|
Leukodystrophy
|
0.100 |
Biomarker
|
disease |
BEFREE |
Although recurrent mutations have been found at CpG dinucleotides in the EIF2B genes, the high incidence of private or low frequency mutations increases the challenge of providing rapid genetic confirmation of this disorder, and limits the application of EIF2B screening in cases of undiagnosed leukodystrophy.
|
18263758 |
2008 |
|
Leukodystrophy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the eukaryotic translation initiation factor 2B (eIF2B) represent a heterogenous group of autosomal recessive leucodystrophy characterized by a diffuse CSF-like aspect of the white matter at MRI designed as vanishing white matter (VWM) and episodes of acute deterioration after stresses.
|
18005052 |
2008 |
|
Leukodystrophy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in eukaryotic initiation factor 2B (eIF2B) cause one of the most common leukodystrophies, childhood ataxia with CNS hypomyelination/vanishing white matter disease or CACH/VWM.
|
16378743 |
2006 |
|
Leukodystrophy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Vanishing white matter disease (VWM) is a heritable leukodystrophy linked to mutations in translation initiation factor 2B (eIF2B).
|
15723074 |
2005 |
|
Leukodystrophy
|
0.100 |
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 |
|
Leukodystrophy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Ninety-three individuals (78 families) with an undetermined leukodystrophy were selected on MRI-based criteria of childhood ataxia with central hypomyelination/vanishing white matter (CACH/VWM) for EIF2B genes analysis.
|
15136673 |
2004 |
|
Leukodystrophy
|
0.100 |
Biomarker
|
disease |
BEFREE |
This review focuses on advances in the understanding of the role of eIF2B as a cause of a common leukodystrophy syndrome. eIF2B-related disorders have a clinical spectrum ranging from a severe, rapidly progressive congenital or early infantile encephalopathy to a slowly progressive cognitive and motor deterioration often associated with premature ovarian failure.
|
15021247 |
2004 |
|
Leukodystrophy
|
0.100 |
Biomarker
|
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 |