A wide range of known mutations in each of the five subunits of eukaryotic translation initiation factor 2B (eIF2B1-5) can lead to a fatal autosomal-recessive neurodegenerative disorder that primarily affects the white matter of the central nervous system (CNS), termed vanishing white matter disease (VWM, OMIM #603896), childhood ataxia with CNS hypomyelination (CACH) or eIF2B-related leucodystrophy [1]–[4]. Here, EIF2B5 is linked to leukoencephalopathy with vanishing white matter.