Article
Cree leukoencephalopathy and CACH/VWM disease are allelic at the EIF2B5 locus.
Annals of neurology - 1 Oct 2002
Fogli Anne, Wong Kondi, Eymard-Pierre Eleonore, Wenger Jack, Bouffard John-Paul, Goldin Ehud, Black Deborah N, Boespflug-Tanguy Odile, Schiffmann Raphael
Abstract excerpt
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...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.