Inherited in an autosomal recessive manner, VWM is the first known hereditary human disease caused by direct defects in the initiation of the protein translation process, specifically, gene defects in EIF2B1-5, encoding the five subunits of eukaryotic translation initiation factor 2B (eIF2Bα, β, γ, δ and ε) [3,4]. This evidence concerns the gene EIF2B1 and leukoencephalopathy with vanishing white matter.