DISEASE: Leukoencephalopathy with vanishing white matter
Entry
H00869 Disease
Name
Leukoencephalopathy with vanishing white matter; Vanishing white matter disease; Childhood ataxia with diffuse central nervous system hypomyelination (CACH); Cree leukoencephalopathy (CLE)
Leukoencephalopathy with vanishing white matter (VWM), also referred to as childhood ataxia with diffuse central nervous system hypomyelination (CACH), is one of the most prevalent inherited childhood disorders of cerebral white matter. This autosomal recessive progressive neurological disorder usually begins in early childhood, but a wide spectrum of clinical severity is now recognized from fatal infantile forms such as Cree leukoencephalopathy to mild later-onset forms associated with ovarian failure. The principal findings are cerebellar ataxia and spasticity with relative preservation of mental abilities. Nearly all patients have mutations in any of the 5 genes encoding the eukaryotic translation initiation factor eIF2B. Mutated eIF2B could impair the ability of cells to regulate protein synthesis, especially under conditions of cell stress.
Category
Nervous system disease; Congenital disorder of metabolism
Brite
Human diseases [BR:br08402]
Nervous system diseases
Neurodegenerative diseases
H00869 Leukoencephalopathy with vanishing white matter
Congenital disorders of metabolism
Congenital disorders of lipid/glycolipid metabolism
H00869 Leukoencephalopathy with vanishing white matter
Human diseases in ICD-11 classification [BR:br08403]
08 Diseases of the nervous system
Multiple sclerosis or other white matter disorders
8A44 Leukodystrophies
H00869 Leukoencephalopathy with vanishing white matter
Biochemical effects of mutations in the gene encoding the alpha subunit of eukaryotic initiation factor (eIF) 2B associated with Vanishing White Matter disease.
Matsukawa T, Wang X, Liu R, Wortham NC, Onuki Y, Kubota A, Hida A, Kowa H, Fukuda Y, Ishiura H, Mitsui J, Takahashi Y, Aoki S, Takizawa S, Shimizu J, Goto J, Proud CG, Tsuji S
Title
Adult-onset leukoencephalopathies with vanishing white matter with novel missense mutations in EIF2B2, EIF2B3, and EIF2B5.
