KEGG   DISEASE: Leukoencephalopathy with vanishing white matter
H00869                      Disease                                
Leukoencephalopathy with vanishing white matter;
Vanishing white matter disease;
Childhood ataxia with diffuse central nervous system hypomyelination (CACH);
Cree leukoencephalopathy (CLE)
Ovarioleukodystrophy [DS:H02200]
Progressive leukoencephalopathy [DS:H02598]
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.
Nervous system disease; Congenital disorder of metabolism
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
hsa03013  Nucleocytoplasmic transport
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]
Other DBs
ICD-11: 8A44.3
ICD-10: E75.2
MeSH: D056784
OMIM: 603896
Pronk JC, van Kollenburg B, Scheper GC, van der Knaap MS
Vanishing white matter disease: a review with focus on its genetics.
Ment Retard Dev Disabil Res Rev 12:123-8 (2006)
Bugiani M, Boor I, Powers JM, Scheper GC, van der Knaap MS
Leukoencephalopathy with vanishing white matter: a review.
J Neuropathol Exp Neurol 69:987-96 (2010)
PMID:26285592 (EIF2B1)
Wortham NC, Proud CG
Biochemical effects of mutations in the gene encoding the alpha subunit of eukaryotic initiation factor (eIF) 2B associated with Vanishing White Matter disease.
BMC Med Genet 16:64 (2015)
PMID:11704758 (EIF2B2, EIF2B5)
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
Subunits of the translation initiation factor eIF2B are mutant in leukoencephalopathy with vanishing white matter.
Nat Genet 29:383-8 (2001)
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
Adult-onset leukoencephalopathies with vanishing white matter with novel missense mutations in EIF2B2, EIF2B3, and EIF2B5.
Neurogenetics 12:259-61 (2011)

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