Genotype-phenotype correlation in vanishing white matter disease


van der Lei H. D. W. , van Berkel C. G. M. , van Wieringen W. N. , Brenner C., Feigenbaum A., Mercimek-Mahmutoglu S., ...More

NEUROLOGY, vol.75, no.17, pp.1555-1559, 2010 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 75 Issue: 17
  • Publication Date: 2010
  • Doi Number: 10.1212/wnl.0b013e3181f962ae
  • Title of Journal : NEUROLOGY
  • Page Numbers: pp.1555-1559

Abstract

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 severity, and disease course of VWM vary greatly. The influence of genotype and gender on the phenotype is unclear.