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

Bektas G., Bektas G., YEŞİL G., YEŞİL G., Ozkan M. U., Ozkan M. U., ...More

Clinical neurology and neurosurgery, vol.171, pp.190-193, 2018 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 171
  • Publication Date: 2018
  • Doi Number: 10.1016/j.clineuro.2018.06.023
  • Journal Name: Clinical neurology and neurosurgery
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.190-193
  • Keywords: Child, eif2b, Neuroimaging, Neurology
  • Istanbul University Affiliated: Yes

Abstract

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.