A case of ovarioleukodystrophy without eIF2B mutations
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- 作者：Carmen Gaudiano ; Carol Di Perri ; Ornella Scali ; Aless ; ra Rufa ; Carla Battisti ; Nicola De Stefano ; Antonio Federico
- 关键词：Ovarioleukodystrophy ; eIF2B mutations ; Genetic heterogeneity
- 刊名：Journal of the Neurological Sciences
- 出版年：2008
- 出版时间：15 May 2008
- 年：2008
- 卷：268
- 期：1-2
- 页码：183-186
- 全文大小：702 K
文摘
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.