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Article

Natural history of adult-onset eIF2B-related disorders: a multi-centric survey of 16 cases.

Brain : a journal of neurology - 1 Aug 2009

Labauge Pierre, Horzinski Laetitia, Ayrignac Xavier, Blanc Pierre, Vukusic Sandra, Rodriguez Diana, Mauguiere Francois, Peter Laure, Goizet Cyril, Bouhour Francoise, Denier Christian, Confavreux Christian, Obadia Michael, Blanc Frederic, de Sèze Jérome, Fogli Anne, Boespflug-Tanguy Odile

Abstract excerpt

Mutations in one of the five eukaryotic initiation factor 2B genes (EIF2B1-5) were first described in childhood ataxia with cerebral hypomyelination--vanishing white matter syndrome. The syndrome is characterized by (i) cerebellar and pyramidal signs in children aged 2-5 years; (ii) extensive cav...

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PMID: 19625339
DOI: 10.1093/brain/awp171

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19625339-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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Natural history of adult-onset eIF2B-related disorders: a multi-centric survey of 16 cases.PMID 19625339Read ↗

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