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, cilt.171, ss.190-193, 2018 (SCI İndekslerine Giren Dergi)

  • Cilt numarası: 171
  • Basım Tarihi: 2018
  • Doi Numarası: 10.1016/j.clineuro.2018.06.023
  • Dergi Adı: CLINICAL NEUROLOGY AND NEUROSURGERY
  • Sayfa Sayısı: ss.190-193

Özet

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.