Article
A case of ovarioleukodystrophy without eIF2B mutations.
Journal of the neurological sciences - 15 May 2008
Gaudiano Carmen, Di Perri Carol, Scali Ornella, Rufa Alessandra, Battisti Carla, De Stefano Nicola, Federico Antonio
Abstract excerpt
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...
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