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- W4255184719 abstract "Vanishing white matter (VWM) is one of the most prevalent inherited white matter disorders. It is a leukoencephalopathy with an autosomal-recessive mode of inheritance, characterized by progressive rarefaction and cystic degeneration of the cerebral white matter. VWM affects patients of all ages, from prenatal onset to senescence. VWM is characterized by chronic neurologic deterioration with additional episodes of more rapid and serious deterioration, most often provoked by febrile infections orminor head trauma, which may lead to coma and death. Ovarian failure is frequent among female patients with VWM and may even precede the neurologic decline. In patients with VWM, serious deteriorations often follow febrile infections, which could correlate to the regulating role of eIF2B on translation upon heat stress. The functional effects of VWM mutations are very diverse, including defects in eIF2B complex integrity, binding to the regulatory a-subunit, substrate binding, and guanine nucleotide exchange factor activity." @default.
- W4255184719 created "2022-05-12" @default.
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- W4255184719 date "2018-03-09" @default.
- W4255184719 modified "2023-09-29" @default.
- W4255184719 title "Vanishing White Matter Disease" @default.
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- W4255184719 doi "https://doi.org/10.1002/9781119013112.ch36" @default.
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