Gepubliceerd in:

01-02-2013

The influence of Vanishing White Matter mutations on oligodendrocyte differentiation

Auteurs: S. Dooves, J.A. van der Kreeke, P. Leferink, J.G. Jacobs, M.S. van der Knaap, V.M. Heine

Gepubliceerd in: Tijdschrift voor Kindergeneeskunde | bijlage 1/2013

Extract

Vanishing White Matter disease (VWM) is an autosomal recessive leukoencephalopathy caused by mutations in genes encoding the eukaryotic translation initiation factor 2B (eIF2B). Children are mainly affected, who suffer from progressive neurological symptoms as ataxia and die at young age. Previous research indicates that the macroglial cells of the brain (astrocytes and oligodendrocytes) in VWM show a defect in maturation. Currently there is no treatment available. …

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