Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
1915764 | Journal of the Neurological Sciences | 2008 | 4 Pages |
Abstract
A new association of Vanishing White Matter (VWM) and premature ovarian failure (POF) was recently described as a sole entity called ovarioleukodystrophy. Seven out of eight patients reported by Fogli et al. had translation initiation factor (eIF2B) mutations, specific to the VWM. The only patient without mutations had a distinctive neurological presentation that included cognitive deterioration without motor signs and white matter abnormalities restricted to the frontal lobe.We describe here a case suggestive of ovarioleukodistrophy carrying no eIF2B mutations.
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Authors
Carmen Gaudiano, Carol Di Perri, Ornella Scali, Alessandra Rufa, Carla Battisti, Nicola De Stefano, Antonio Federico,