CACH syndrome (childhood ataxia with central nervous system hypomyelination) is a leukoencephalopathy that manifests in childhood.
The disease is caused by mutations in the genes encoding the EIF2B protein. This affects the regulation of protein synthesis under stress. The consequence of this is the breakdown of the white matter.
Symptoms begin and worsen through fever and / or a minor trauma. The main symptoms are spasticity, ataxia and epilepsy.
Patients usually die 5 to 10 years after the onset of symptoms. The course of the disease depends on the age of onset (the sooner the worse the course is) and the type of mutation in case.