A case of ovarioleukodystrophy without eIF2B mutations.
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.
Department of Neurological and Behavioural Sciences, University of Siena, Italy.
Carmen
C
Gaudiano
Carol
C
Di Perri
Ornella
O
Scali
Alessandra
A
Rufa
Carla
C
Battisti
Nicola
N
De Stefano
Antonio
A
Federico
D000328:Adult; D001927:Brain Diseases / Q000150:complications / Q000235:genetics* / Q000473:pathology*; D004252:DNA Mutational Analysis; D020717:Eukaryotic Initiation Factor-2B / Q000235:genetics* / Q000378:metabolism; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging / Q000379:methods; D009682:Magnetic Resonance Spectroscopy / Q000379:methods; D009154:Mutation / Q000235:genetics; D016649:Primary Ovarian Insufficiency / Q000150:complications / Q000235:genetics* / Q000473:pathology*
D020717:Eukaryotic Initiation Factor-2B