Article
Adult-onset vanishing white matter disease due to a novel EIF2B3 mutation.
Archives of neurology - 1 Jun 2012
La Piana Roberta, Vanderver Adeline, van der Knaap Marjo, Roux Louise, Tampieri Donatella, Brais Bernard, Bernard Geneviève
Abstract excerpt
OBJECTIVE: To report a novel mutation in the gene EIF2B3 responsible for a late-onset form of vanishing white matter disease. DESIGN: Case report. SETTING: University teaching hospital. PATIENT: A 29-year-old pregnant woman with a history of premature ovarian failure and hemiplegic migraines presented with a 10-week history of progressive confusion and headaches. Magnetic resonance imaging of the brain revealed a...
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