leukoencephalopathy with vanishing white matter

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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.
Farlex Partner Medical Dictionary © Farlex 2012

leukoencephalopathy with vanishing white matter

A 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).

Molecular pathology
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.
Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.
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The case was moved to Clark County Circuit Court, and in December, Circuit Court Judge Robert McCallum gave the case class-action status, which could include thousands of potential class members in Arkansas who were subjected to Cach's collection techniques.
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