Article
Genotype-phenotype correlation in vanishing white matter disease.
Neurology - 26 Oct 2010
van der Lei H D W, van Berkel C G M, van Wieringen W N, Brenner C, Feigenbaum A, Mercimek-Mahmutoglu S, Philippart M, Tatli B, Wassmer E, Scheper G C, van der Knaap M S
Abstract excerpt
OBJECTIVE: Vanishing white matter (VWM) is an autosomal recessive leukoencephalopathy characterized by slowly progressive ataxia and spasticity with additional stress-provoked episodes of rapid and major deterioration. The disease is caused by mutations in the genes encoding the subunits of eukaryotic initiation factor 2B, which is pivotal in translation of mRNAs into proteins. The disease onset, clinical...
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