VANISHING WHITE MATTER DISEASE WITH CENTRAL HYPOMYELINATION

2021 ◽  
pp. 5-5
Author(s):  
Dodla Natya Reddy ◽  
Kancharla Naveen Kumar

Vanishing white matter disease (VWM) is the most prevalent inherited leucoencephalopathies in children with central hypomyelination. The classical phenotype is characterized by early onset of chronic neurological deterioration, dominated by cerebellar ataxia. The phenotypic variation is extremely wide from antenatal in onset type with early demise to adult in onset with slowly progressive disease. The basic defect is in one of the ve sub-units of eIF2Binitiation factor. Here we report a case of 80 days old male infant with decreased weight gain, stiffness of all four limbs, seizures following head trauma in whom MRI brain identied T2 hyperintensities in white matter of fronto-temporo-parieto-occipital regions and on DWI, it showed abnormal white matter with increased diffusivity reecting the rarefaction and cystic degenerations. Hence diagnosis of VWM disease was established.

2012 ◽  
Vol 34 (7) ◽  
pp. 1235-1238 ◽  
Author(s):  
Luisa Sambati ◽  
Raffaele Agati ◽  
Antonella Bacci ◽  
Silvia Bianchi ◽  
Sabina Capellari

2020 ◽  
Author(s):  
Matthew D. Keefe ◽  
Haille E. Soderholm ◽  
Hung-Yu Shih ◽  
Tamara J. Stevenson ◽  
Kathryn A. Glaittli ◽  
...  

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.


PLoS ONE ◽  
2012 ◽  
Vol 7 (10) ◽  
pp. e46715 ◽  
Author(s):  
Yuval Cabilly ◽  
Mali Barbi ◽  
Michal Geva ◽  
Liraz Marom ◽  
David Chetrit ◽  
...  

2008 ◽  
Vol 110 (10) ◽  
pp. 1068-1071 ◽  
Author(s):  
Nathalie Damon-Perriere ◽  
Patrice Menegon ◽  
Anne Olivier ◽  
Odile Boespflug-Tanguy ◽  
Florence Niel ◽  
...  

2021 ◽  
Vol 429 ◽  
pp. 118270
Author(s):  
Giulia Galli ◽  
Eleonora Virgilio ◽  
Paola Naldi ◽  
Riccardo Fornaro ◽  
Domizia Vecchio ◽  
...  

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