| H00869 | |
| H number | H00869 |
| Name | Leukoencephalopathy with vanishing white matter; Vanishing white matter disease; Childhood ataxia with diffuse central nervous system hypomyelination (CACH); Cree leukoencephalopathy (CLE) |
| Description | 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 |
| Network | - |
| Gene | EIF2B1 [HSA:1967] [KO:K03239] EIF2B2 [HSA:8892] [KO:K03754] EIF2B3 [HSA:8891] [KO:K03241] EIF2B4 [HSA:8890] [KO:K03680] EIF2B5 [HSA:8893] [KO:K03240] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: 8A44.3 ICD-10: E75.2 MeSH: D056784 OMIM: 603896 |
| Reference | PMID:16807905 AUTHORS Pronk JC, van Kollenburg B, Scheper GC, van der Knaap MS TITLE Vanishing white matter disease: a review with focus on its genetics. JOURNAL Ment Retard Dev Disabil Res Rev 12:123-8 (2006) DOI:10.1002/mrdd.20104 PMID:20838246 AUTHORS Bugiani M, Boor I, Powers JM, Scheper GC, van der Knaap MS TITLE Leukoencephalopathy with vanishing white matter: a review. JOURNAL J Neuropathol Exp Neurol 69:987-96 (2010) DOI:10.1097/NEN.0b013e3181f2eafa PMID:26285592 (EIF2B1) AUTHORS Wortham NC, Proud CG TITLE Biochemical effects of mutations in the gene encoding the alpha subunit of eukaryotic initiation factor (eIF) 2B associated with Vanishing White Matter disease. JOURNAL BMC Med Genet 16:64 (2015) DOI:10.1186/s12881-015-0204-z PMID:11704758 (EIF2B2, EIF2B5) AUTHORS Leegwater PA, Vermeulen G, Konst AA, Naidu S, Mulders J, Visser A, Kersbergen P, Mobach D, Fonds D, van Berkel CG, Lemmers RJ, Frants RR, Oudejans CB, Schutgens RB, Pronk JC, van der Knaap MS TITLE Subunits of the translation initiation factor eIF2B are mutant in leukoencephalopathy with vanishing white matter. JOURNAL Nat Genet 29:383-8 (2001) DOI:10.1038/ng764 PMID:21484434 AUTHORS 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. JOURNAL Neurogenetics 12:259-61 (2011) DOI:10.1007/s10048-011-0284-7 |