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Updated: May 17, 2026

Diffusion Tensor Magnetic Resonance Imaging in the Analysis of Neurodegenerative Diseases
Published on: July 28, 2013
A 66-year-old patient with vanishing white matter disease due to the p.Ala87Val EIF2B3 mutation
Laura Ghezzi1, Elio Scarpini, Mario Rango
1Department of Neurological Sciences, University of Milan, Fondazione Cà Granda, IRCCS Ospedale Policlinico, Milan, Italy. lauraghezzi@me.com
Abstract:
Vanishing white matter (VWM; OMIM # 603896) is one of the most prevalent inherited childhood leukoencephalopathies. It has, however, become evident that VWM has a wider clinical spectrum, with age at onset inversely related to clinical severity. Many affected women experience a combination of leukoencephalopathy and primary amenorrhea or premature ovarian failure, a condition named ovarioleukodystrophy. Mutations in any of the genes encoding the 5 subunits of the Eukaryotic Initiation Factor 2B gene (EIF2B1, 2, 3, 4, and 5) can independently cause VWM.(1).
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