Epstein–Barr and other viral mimicry of autoantigens, myelin and vitamin D-related proteins and of EIF2B, the cause of vanishing white matter disease: massive mimicry of multiple sclerosis relevant proteins by theSynechococcusphage

2011 ◽  
Vol 34 (1) ◽  
pp. 21-35 ◽  
Author(s):  
C. J. Carter
Keyword(s):  
Multiple Sclerosis ◽  
Vitamin D ◽  
White Matter ◽  
White Matter Disease ◽  
Viral Mimicry ◽  
Epstein Barr ◽  
Vanishing White Matter Disease ◽  
Related Proteins ◽  
Vanishing White Matter

No evidence that polymorphisms of the vanishing white matter disease genes are risk factors in multiple sclerosis

2008 ◽  
Vol 14 (8) ◽  
pp. 1123-1126 ◽  
Author(s):  
JC Pronk ◽  
GC Scheper ◽  
RJ van Andel ◽  
CGM van Berkel ◽  
CH Polman ◽  
...  
Keyword(s):  
Risk Factors ◽  
Multiple Sclerosis ◽  
White Matter ◽  
Disease Genes ◽  
White Matter Disease ◽  
Healthy Controls ◽  
Sequencing Data ◽  
Hardy Weinberg Equilibrium ◽  
Vanishing White Matter Disease ◽  
Vanishing White Matter

Febrile infections are known to cause exacerbations in the white matter disorders ‘vanishing white matter’ (VWM) and multiple sclerosis (MS). We hypothesized that polymorphisms in EIF2B1-5, the genes involved in VWM, might be risk factors for the development of MS or temperature sensitivity in patients with MS. We found no difference in the frequencies of 15 EIF2B1-5 variants between patients with MS and healthy controls, and none of the variants showed significant deviation of the Hardy-Weinberg equilibrium. Furthermore, sequencing data of EIF2B1-5 in 20 patients with MS and measurement of the activity of eIF2B complex in patient-derived lymphoblasts did not support our hypothesis.

Adult-onset vanishing white matter disease as differential diagnosis of primary progressive multiple sclerosis: A case report

2014 ◽  
Vol 21 (5) ◽  
pp. 666-668 ◽  
Author(s):  
Marina Herwerth ◽  
Benedikt J Schwaiger ◽  
Kornelia Kreiser ◽  
Bernhard Hemmer ◽  
Rüdiger Ilg
Keyword(s):  
Multiple Sclerosis ◽  
White Matter ◽  
Diffusion Weighted Imaging ◽  
White Matter Lesions ◽  
Progressive Multiple Sclerosis ◽  
White Matter Disease ◽  
Primary Progressive Multiple Sclerosis ◽  
Adult Onset ◽  
Vanishing White Matter Disease ◽  
Vanishing White Matter

We report the case of a 42-year-old woman with a slowly progressive cerebellar syndrome. In contrast to a relatively mild clinical presentation, the magnetic resonance imaging (MRI) showed extensive leukencephalopathy with cystic degeneration. Initially primary progressive multiple sclerosis (PPMS) was suspected. Additional diffusion-weighted imaging revealed restricted diffusion in the white matter lesions with a reduced apparent diffusion coefficient. Genetic testing showed vanishing white matter disease (VWM) with c.260C>T EIF2B3 mutation. In conclusion, in cases with relatively mild symptoms and extensive white matter lesions, adult-onset VWM should be considered as differential diagnosis of PPMS and diffusion-weighted imaging may be helpful to identify suspected cases.

scholarly journals Vanishing White Matter Disease Expression of Truncated EIF2B5 Activates Induced Stress Response

2020 ◽  
Author(s):  
Matthew D. Keefe ◽  
Haille E. Soderholm ◽  
Hung-Yu Shih ◽  
Tamara J. Stevenson ◽  
Kathryn A. Glaittli ◽  
...  
Keyword(s):  
White Matter ◽  
Motor Behavior ◽  
Somatic Growth ◽  
Initiation Factor ◽  
White Matter Disease ◽  
The Central Nervous System ◽  
Oligodendrocyte Precursor ◽  
Vanishing White Matter Disease ◽  
Development And Validation ◽  
Vanishing White Matter

AbstractVanishing White Matter disease (VWM) is a severe leukodystrophy of the central nervous system caused by mutations in subunits of the eukaryotic initiation factor 2B complex (eIF2B). Current models only partially recapitulate key disease features, and pathophysiology is poorly understood. Through development and validation of zebrafish (Danio rerio) models of VWM, we demonstrate that zebrafish eif2b mutants phenocopy VWM, including impaired somatic growth, early lethality, impaired myelination, loss of oligodendrocyte precursor cells, increased apoptosis in the CNS, and impaired motor swimming behavior. Expression of human EIF2B2 in the zebrafish eif2b2 mutant rescues lethality and CNS apoptosis, demonstrating conservation of function between zebrafish and human. In the mutants, intron 12 retention leads to expression of a truncated eif2b5 transcript. Expression of the truncated eif2b5 in wild-type larva impairs motor behavior and activates the ISR, suggesting that a feed-forward mechanism in VWM is a significant component of disease pathophysiology.

scholarly journals Poor Cerebral Inflammatory Response in eIF2B Knock-In Mice: Implications for the Aetiology of Vanishing White Matter Disease

PLoS ONE ◽  
2012 ◽  
Vol 7 (10) ◽  
pp. e46715 ◽  
Author(s):  
Yuval Cabilly ◽  
Mali Barbi ◽  
Michal Geva ◽  
Liraz Marom ◽  
David Chetrit ◽  
...  
Keyword(s):  
White Matter ◽  
Inflammatory Response ◽  
White Matter Disease ◽  
Vanishing White Matter Disease ◽  
Vanishing White Matter

Intra-familial phenotypic heterogeneity in adult onset vanishing white matter disease

2008 ◽  
Vol 110 (10) ◽  
pp. 1068-1071 ◽  
Author(s):  
Nathalie Damon-Perriere ◽  
Patrice Menegon ◽  
Anne Olivier ◽  
Odile Boespflug-Tanguy ◽  
Florence Niel ◽  
...  
Keyword(s):  
White Matter ◽  
Phenotypic Heterogeneity ◽  
White Matter Disease ◽  
Adult Onset ◽  
Vanishing White Matter Disease ◽  
Vanishing White Matter
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