Vanishing white matter disease with a novel EIF2B5 mutation: A 10-year follow-up
Uzunhan, Tugce Aksu
Yildiz, Edibe Pembegul
Ozkan, Melis Ulak
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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.