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Ann Neurol. 2002 Oct;52(4):506-10.

Cree leukoencephalopathy and CACH/VWM disease are allelic at the EIF2B5 locus.

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  • 1Institut National de la Santé et de la Recherche Médicale UMR 384, Facultéde Médecine, Clermont-Ferrand, France.

Abstract

Cree leukoencephalopathy is a rapidly fatal infantile autosomal recessive leukodystrophy of unknown cause observed in the native North American Cree and Chippewayan indigenous population. We found in the brain of affected individuals the typical foamy cells with the oligodendroglial phenotype described in central hypomyelination syndrome/vanishing white matter, a syndrome related to mutations in the genes encoding the five subunits of the eucaryotic translation initiation factor eIF2B. In three patients of two Cree families, we found a homozygous missense mutation resulting in a histidine substitution at arginine 195 of epsilon-eIF2B.

PMID:
12325082
[PubMed - indexed for MEDLINE]
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