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.
Gaudiano, C., Di PerriI, C., Scali, O., Rufa, A., Battisti, C., De Stefano, N., et al. (2008). A case of ovarioleukodystrophy without elF2B mutations. JOURNAL OF THE NEUROLOGICAL SCIENCES, 268(1-2), 183-186 [10.1016/j.jns.2007.10.027].
A case of ovarioleukodystrophy without elF2B mutations
Rufa, Alessandra;Battisti, Carla;De Stefano, Nicola;Federico, Antonio
2008-01-01
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.File | Dimensione | Formato | |
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https://hdl.handle.net/11365/24772
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