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ERIC Number: EJ904025
Record Type: Journal
Publication Date: 2006
Pages: 6
Abstractor: As Provided
Reference Count: 40
ISSN: ISSN-1080-4013
Vanishing White Matter Disease: A Review with Focus on Its Genetics
Pronk, Jan C.; van Kollenburg, Barbara; Scheper, Gert C.; van der Knaap, Marjo S.
Mental Retardation and Developmental Disabilities Research Reviews, v12 n2 p123-128 2006
Leukoencephalopathy with vanishing white matter (VWM) is an autosomal recessive brain disorder, most often with a childhood onset. Magnetic resonance imaging and spectroscopy indicate that, with time, increasing amounts of cerebral white matter vanish and are replaced by fluid. Autopsy confirms white matter rarefaction and cystic degeneration. The process of localization and identification of the first two genes related to VWM, "EIF2B5" and "EIF2B2", was facilitated by two founder effects in the Dutch population. "EIF2B5" and "EIF2B2" encode the [epsilon] and [beta] subunits of translation initiation factor eIF2B. Soon it was shown that mutations in all five eIF2B subunit genes can cause VWM. EIF2B is essential for the initiation of translation of RNA into protein and is involved in regulation of the process, especially under stress conditions, which may explain the sensitivity to stress conditions observed in VWM patients. The pathophysiology of the disease is still poorly understood. (Contains 1 table and 3 figures.)
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Publication Type: Journal Articles; Reports - Evaluative
Education Level: Adult Education
Audience: N/A
Language: English
Sponsor: N/A
Authoring Institution: N/A