Vanishing white matter disease with a novel EIF2B5 mutation: A 10-year follow-up

Bektas G., YEŞİL G., Ozkan M. U., Yildiz E. P., Uzunhan T. A., Caliskan M.

CLINICAL NEUROLOGY AND NEUROSURGERY, vol.171, pp.190-193, 2018 (SCI-Expanded) identifier identifier identifier


Background: Vanishing white matter disease is a heterogeneous disorder caused by mutation in one of the five genes encoding subunits of the eukaryotic initiation factor eIF2B. It is a heterogeneous disorder due to phenotypic variation and a clear genotype-phenotype correlation could not be established so far. We describe a novel mutation in the EIF2B5 gene by analyzing the clinical phenotype and the progression of brain lesions for 10 years.