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Mutations in the genes encoding eukaryotic translation initiation factor 2B in Japanese patients with vanishing white matter disease.

Brain & development - 1 Nov 2015

Shimada Shino, Shimojima Keiko, Sangu Noriko, Hoshino Ai, Hachiya Yasuo, Ohto Tatsuyuki, Hashi Yuichiro, Nishida Katsuya, Mitani Maki, Kinjo Saori, Tsurusaki Yoshinori, Matsumoto Naomichi, Morimoto Masafumi, Yamamoto Toshiyuki

Abstract excerpt

OBJECTIVE: Vanishing white matter disease (VWM) is a chronic, progressive leukoencephalopathy associated with episodes of rapid deterioration following minor stress events such as head traumas or infectious disorders. The white matter of the patients with VWM exhibits characteristic radiological findings. METHOD: The genes encoding all five subunits of eukaryotic translation initiation factor 2B (EIF2B) were...

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PMID: 25843247
DOI: 10.1016/j.braindev.2015.03.003

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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