A severe variant of childhood ataxia with central hypomyelination/vanishing white matter leukoencephalopathy related to EIF21B5 mutation

A. Fogli, C. Dionisi-Vici, F. Deodato, A. Bartuli, Odile Boespflug-Tanguy, E. Bertini

Research output: Contribution to journalArticle

Abstract

Childhood ataxia with central hypomyelination (CACH)/vanishing white matter (VWM) leukoencephalopathy is related to mutations in all five genes of the eukaryotic translation initiation factor (eIF2B). In a fatal infantile leukoencephalopathy, which the authors previously classified as a severe variant of CACH/VWM, a new homozygous missense mutation in the EIF2B5 gene was found. Abnormal decrease in blood uric acid and increase of erythrocyte guanosine 5′-diphosphate sugars found in two siblings may contribute to the explanation of this particularly severe condition.

Original languageEnglish
Pages (from-to)1966-1968
Number of pages3
JournalNeurology
Volume59
Issue number12
Publication statusPublished - Dec 24 2002

ASJC Scopus subject areas

  • Neuroscience(all)

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