Genotype-phenotype correlation in vanishing white matter disease.

Vanishing White Matter Disease

Vanishing white matter disease 1 (VWM) is a puzzling leukoencephalopathy caused by mutations in any of the five genes encoding eukaryotic translation initiation factor 2B (eIF2B), an ubiquitously expressed protein complex with a crucial role in initiation of mRNA translation for virtually every protein in the human body. VWM is one of the most prevalent inherited childhood white matter disorder...

Leukoencephalopathy with vanishing white matter presenting with presenile dementia.

Vanishing white matter disease (VWM, OMIM #306896) is an autosomal recessive leukoencephalopathy typically of childhood onset. Patients usually present with progressive cerebellar ataxia and spasticity. MRI shows a diffuse leukoencephalopathy. Part of the abnormal cerebral white matter has the signal intensity of CSF on all pulse sequences, reflecting progressive disappearance of white matter, ...

Astrocytes are central in the pathomechanisms of vanishing white matter.

Vanishing white matter (VWM) is a fatal leukodystrophy that is caused by mutations in genes encoding subunits of eukaryotic translation initiation factor 2B (eIF2B). Disease onset and severity are codetermined by genotype. White matter astrocytes and oligodendrocytes are almost exclusively affected; however, the mechanisms of VWM development remain unclear. Here, we used VWM mouse models, patie...

Chromosome Duplication (14q) and The Genotype Phenotype Correlation

Hyaluronan accumulation and arrested oligodendrocyte progenitor maturation in vanishing white matter disease.

Vanishing white matter disease is a genetic leukoencephalopathy caused by mutations in eukaryotic translation initiation factor 2B. Patients experience a slowly progressive neurological deterioration with episodes of rapid clinical worsening triggered by stress. The disease may occur at any age and leads to early death. Characteristic neuropathological findings include cystic degeneration of th...