Article
The spectrum of mutations for the diagnosis of vanishing white matter disease.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology - 1 Sept 2006
Scali O, Di Perri C, Federico A
Abstract excerpt
Vanishing white matter disease (VWM; MIM #603896), also known as childhood ataxia with central nervous system hypomyelination (CACH) syndrome, is an autosomal recessive transmitted leukoencephalopathy related to mutations in each of the 5 genes (EIF2B1, EIF2B2, EIF2B3, EIF2B4 and EIF2B5) encoding for the 5 subunits of eukaryotic translation initiation factor 2B (eIF2B), essential for protein synthesis. VWM is...
Topics
- Brain Diseases
- Eukaryotic Initiation Factor-2B
- Hereditary Central Nervous System Demyelinating Diseases
- Humans
- Magnetic Resonance Imaging
- Models, Biological
- Mutation