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Article

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

Clinical neurology and neurosurgery - 1 Aug 2018

Bektaş Gonca, Yeşil Gözde, Özkan Melis Ulak, Yıldız Edibe Pembegül, Uzunhan Tuğçe Aksu, Çalışkan Mine

Abstract excerpt

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...

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Identifiers

PMID: 29933199
DOI: 10.1016/j.clineuro.2018.06.023

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