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.
Publication types
-
Case Reports
-
Research Support, Non-U.S. Gov't
MeSH terms
-
Adult
-
Brain Diseases / complications
-
Brain Diseases / genetics*
-
Brain Diseases / pathology*
-
DNA Mutational Analysis
-
Eukaryotic Initiation Factor-2B / genetics*
-
Eukaryotic Initiation Factor-2B / metabolism
-
Female
-
Humans
-
Magnetic Resonance Imaging / methods
-
Magnetic Resonance Spectroscopy / methods
-
Mutation / genetics
-
Primary Ovarian Insufficiency / complications
-
Primary Ovarian Insufficiency / genetics*
-
Primary Ovarian Insufficiency / pathology*
Substances
-
Eukaryotic Initiation Factor-2B