Vanishing white matter disease: A review with focus on its genetics
- 1 January 2006
- journal article
- review article
- Published by Wiley in Mental Retardation and Developmental Disabilities Research Reviews
- Vol. 12 (2), 123-128
- https://doi.org/10.1002/mrdd.20104
Abstract
Leukoencephalopathy with vanishing white matter (VWM) is an autosomal recessive brain disorder, most often with a childhood onset. Magnetic resonance imaging and spectroscopy indicate that, with time, increasing amounts of cerebral white matter vanish and are replaced by fluid. Autopsy confirms white matter rarefaction and cystic degeneration. The process of localization and identification of the first two genes related to VWM, EIF2B5 and EIF2B2, was facilitated by two founder effects in the Dutch population. EIF2B5 and EIF2B2 encode the ε and β subunits of translation initiation factor eIF2B. Soon it was shown that mutations in all five eIF2B subunit genes can cause VWM. EIF2B is essential for the initiation of translation of RNA into protein and is involved in regulation of the process, especially under stress conditions, which may explain the sensitivity to stress conditions observed in VWM patients. The pathophysiology of the disease is still poorly understood. MRDD Research Reviews 2006;12:123–128.Keywords
This publication has 36 references indexed in Scilit:
- Regulation of protein synthesis in lymphoblasts from vanishing white matter patientsNeurobiology of Disease, 2006
- Fright is a provoking factor in vanishing white matter diseaseAnnals of Neurology, 2005
- Decreased guanine nucleotide exchange factor activity in eIF2B-mutated patientsEuropean Journal of Human Genetics, 2004
- Mutations Linked to Leukoencephalopathy with Vanishing White Matter Impair the Function of the Eukaryotic Initiation Factor 2B Complex in Diverse WaysMolecular and Cellular Biology, 2004
- eIF2B-Related Disorders: Antenatal Onset and Involvement of Multiple OrgansAmerican Journal of Human Genetics, 2003
- Cree leukoencephalopathy and CACH/VWM disease are allelic at the EIF2B5 locusAnnals of Neurology, 2002
- A Case of Leukoencephalopathy with Vanishing White Matter*Neuropediatrics, 2000
- The Gene for Leukoencephalopathy with Vanishing White Matter Is Located on Chromosome 3q27American Journal of Human Genetics, 1999
- Diffuse White Matter Disease in Three Children: An Encephalopathy with Unique Features on Magnetic Resonance Imaging and Proton Magnetic Resonance SpectroscopyNeuropediatrics, 1993
- Höhlenbildende Neutralfett-Leukodystrophie mit SchubverlaufNeuropediatrics, 1976