Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2002 Oct;52(4):506-10.
doi: 10.1002/ana.10339.

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

Anne Fogli  1 , Kondi Wong, Eleonore Eymard-Pierre, Jack Wenger, John-Paul Bouffard, Ehud Goldin, Deborah N Black, Odile Boespflug-Tanguy, Raphael Schiffmann
Affiliations

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

Anne Fogli et al. Ann Neurol. 2002 Oct.

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.

PubMed Disclaimer

Similar articles

See all similar articles

Cited by

See all "Cited by" articles

Publication types

Substances

LinkOut - more resources