Childhood ataxia with central nervous system hypomyelination is also known as or subsumes Vanishing white matter disease. -ed.
Mutations affecting any of the 5 genes of the protein complex eukaryotic initiation factor 2B (eIF2B) cause one of the most common leukodystrophies, the autosomal recessive childhood ataxia with central nervous system hypomyelination (CACH), or vanishing white matter disease (VWM). Patients may develop a wide spectrum of neurologic abnormalities, from prenatal-onset white matter disease to juvenile- or adult-onset ataxia and dementia, sometimes with ovarian insufficiency. The pattern of diffuse white matter abnormalities on brain MRI is virtually always diagnostic. A knock-in mouse model of CACH/VWM showing a developmental white matter abnormality is a promising new tool for research of this devastating disease.