Childhood ataxia with central nervous system hypomyelination is also known as or subsumes Vanishing white matter disease. -ed.
Mutations affecting the 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 and diffusion studies is often diagnostic. A knock-in mouse model of CACH/VWM, which shows a developmental white matter abnormality, is a promising new tool for the research of this devastating disease. Novel promising approaches for specific therapy are being developed. Symptomatic treatment such as deep brain stimulation may alleviate tremor.