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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
Footnotes
Study funding: Supported by grants from Monzino Foundation and Italian Ministry of Health (Ricerca Corrente and additional fund 5 × 1000 2008).
Author contributions: Dr. Laura Ghezzi: corresponding author, collected data, wrote the manuscript. Prof. Elio Scarpini: supervised the work. Dr. Mario Rango: supervised the manuscript. Dr. Andrea Arighi: collected data, wrote the manuscript. Dr. Maria Teresa Bassi: performed genetic analysis, supervised the work. Dr. Erika Tenderini: performed genetic analysis. Dr. Milena De Riz: supervised the work. Dr. Francesca Jacini: collected data. Dr. Giorgio G. Fumagalli: collected data. Dr. Anna M. Pietroboni: collected data. Dr. Daniela Galimberti: supervised the work. Prof. Nereo Bresolin: supervised the work.
Disclosure: The authors report no disclosures relevant to the manuscript. Go to Neurology.org for full disclosures.
- Received April 16, 2012.
- Accepted July 16, 2012.
- © 2012 American Academy of Neurology
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