leukoencephalopathy with vanishing white matter(redirected from CACH syndrome)
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leukoencephalopathy with vanishing white matter
rare autosomal recessive disorder [MIM 603896] marked by extensive cystic degeneration of white matter, due to mutations in the genes for the subunits of eukaryotic initiation factor 2B, a heteropentameric guanine nucleotide exchange factor that regulates cell translation.
leukoencephalopathy with vanishing white matterA leukodystrophy of childhood onset (OMIM:603896) characterised by progressive cerebellar ataxia, spasticity, variable optic atrophy and relatively preserved mental abilities. Leukodystrophy with vanishing white matter is usually slowly progressive, but may undergo rapid deterioration after fever or minor head trauma. Clinical variants include a severe, early-onset form seen among the Cree and Chippewayan populations of Quebec and Manitoba (Cree leukoencephalopathy), and a milder form affecting females who survive to adolescence and exhibit ovarian dysfunction (ovarioleukodystrophy).
Defects in EIF2B1, which encodes a subunit of eukaryotic translation initiation factor 2B (EIF2B), an essential regulator of protein synthesis, are a cause of leukodystrophy with vanishing white matter.