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last update : 30-06-2012
Symbol VWM1
Location 3q27.1
Name leukoencephalopathy with vanishing white matter
Other name(s) childhood ataxia with diffuse CNS hypomyelination
Corresponding gene EIF2B5
Other symbol(s) CACH, VWM
Main clinical features
  • characterized by an onset usually in late infancy and early childhood,a neurological deterioration, progressive cerebellar ataxia, spasticity, central nervous system hypomyelination, variably present optic atrophy, relatively preserved mental abilities and a progressive fatal evolution, on MRI diffuse white matter hyperintensity on T2-weighted images accompanied by hypointense areas
  • Genetic determination autosomal recessive
    Function/system disorder neurology
    Type disease
    Gene product
    Name eukaryotic translation initiation factor 2B, subunit 5 epsilon
    Gene mutationChromosome rearrangementEffectComments
    Remark(s) effects of eIF2B5 mutation on ER homeostasis in oligodendroglial-derived cells (Kantor 2008)