Gepubliceerd in:

01-02-2013

Towards understanding the underlying mechanism of vanishing white matter disease

Auteurs: Lisanne E. Wisse, Emiel Polder, M. Clair van de Beek, Marjo S. van der Knaap, Truus E.M. Abbink

Gepubliceerd in: Tijdschrift voor Kindergeneeskunde | bijlage 1/2013

Extract

Vanishing white matter disease (VWM) is one of the most prevalent genetic childhood white matter disorders. The disease is characterized by ataxia and spasticity. Diagnosis is performed by MRI, which shows progressive white matter degeneration, aggravated by stress, minor head trauma or fever. The lack of myelin and scar tissue formation in the affected area may result from a maturation defect in astrocytes and oligodendrocytes. VWM is caused by recessive mutations in the eukaryotic initiation factor 2B (eIF2B). This enzyme regulates the protein synthesis rate in every cell type and is regulated by various stressors, including heat shock. …

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