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.
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Vanishing White Matter Disease in Children: An Unusual Association, a Novel Mutation, and a Literature Review.
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Department of Neurology, National Institute of Mental Health and Neurosciences, Bengaluru, KA, India.
Background: Vanishing white matter syndrome is one of the leukoencephalopathies caused by recessive mutations in gene . Adult-onset EIF2B-pathies (clinical onset after age 16 years) have been reported to be less common.
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eIF2B localization and its regulation during the integrated stress response is cell-type specific.
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Biomolecular Sciences Research Centre, Industry and Innovation Research Institute (IRI), Sheffield Hallam University, Sheffield S1 1WB, UK.
Eukaryotic initiation factor 2B (eIF2B) controls translation initiation by recycling inactive eIF2-GDP to active eIF2-GTP. Under cellular stress, the integrated stress response (ISR) is activated inhibiting eIF2B activity resulting in the translation attenuation and reprogramming of gene expression to overcome the stress. The ISR can dictate cell fate wherein chronic activation has pathological outcomes.
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