Adult-onset vanishing white matter disease due to a novel EIF2B3 mutation.

@article{Piana2012AdultonsetVW,
  title={Adult-onset vanishing white matter disease due to a novel EIF2B3 mutation.},
  author={Roberta La Piana and Adeline Vanderver and Marjo S. van der Knaap and Louise Roux and Donatella Tampieri and Bernard Brais and Genevi{\`e}ve Bernard},
  journal={Archives of neurology},
  year={2012},
  volume={69 6},
  pages={765-68}
}
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 diffuse leukoencephalopathy. RESULTS Sequencing of the exons and intron… CONTINUE READING
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