From OMIM
Leukoencephalopathy with vanishing white matter-5 (VWM5) is a chronic and progressive autosomal recessive leukoencephalopathy characterized by neurologic deterioration usually beginning in late infancy or early childhood; however, juvenile- and adult-onset cases have been reported. Neurologic signs include cerebellar ataxia, spasticity, and relatively preserved mental abilities. The disease is chronic and progressive with, in most individuals, additional episodes of rapid deterioration following febrile infections or minor head trauma. Death occurs after a variable period of a few years to a few decades, usually following an episode of fever and coma. Magnetic resonance imaging (MRI) and magnetic resonance spectroscopy are diagnostic and show a diffuse abnormality of the cerebral white matter beginning in the presymptomatic stage, with increasing amounts of the abnormal white matter vanishing and being replaced by cerebrospinal fluid; autopsy confirms these findings (summary by Leegwater et al., 2001). Ovarian dysgenesis may be present in affected females (Fogli et al., 2003). For a discussion of genetic heterogeneity of VWM, see 603896. Cree Leukoencephalopathy An infantile leukoencephalopathy among the native Cree and Chippewayan indigenous population in Northern Quebec and Manitoba results from homozygosity for an arg195-to-his (R195H; 603945.0005) mutation in the EIF2B5 gene. These patients have disease onset between 3 and 9 months of age, with death in 100% by 21 months of age.  http://www.omim.org/entry/620315