Article
A 66-year-old patient with vanishing white matter disease due to the p.Ala87Val EIF2B3 mutation.
Neurology - 13 Nov 2012
Ghezzi Laura, Scarpini Elio, Rango Mario, Arighi Andrea, Bassi Maria Teresa, Tenderini Erika, De Riz Milena, Jacini Francesca, Fumagalli Giorgio G, Pietroboni Anna M, Galimberti Daniela, Bresolin Nereo
Abstract excerpt
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...
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