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

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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)

• 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
• Bezmialem Vakıf 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.