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Cree leukoencephalopathy and CACH/VWM disease are allelic at the EIF2B5 locus
Author(s) -
Fogli Anne,
Wong Kondi,
EymardPierre Eleonore,
Wenger Jack,
Bouffard JohnPaul,
Goldin Ehud,
Black Deborah N.,
BoespflugTanguy Odile,
Schiffmann Raphael
Publication year - 2002
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.10339
Subject(s) - leukodystrophy , leukoencephalopathy , missense mutation , locus (genetics) , genetics , allele , biology , arginine , population , phenotype , white matter , gene , disease , medicine , pathology , amino acid , environmental health , radiology , magnetic resonance imaging
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 ε‐eIF2B.