Article
Fatal familial insomnia and familial Creutzfeldt-Jakob disease: disease phenotype determined by a DNA polymorphism.
Science (New York, N.Y.) - 30 Oct 1992
Goldfarb L G, Petersen R B, Tabaton M, Brown P, LeBlanc A C, Montagna P, Cortelli P, Julien J, Vital C, Pendelbury W W
Abstract excerpt
Fatal familial insomnia (FFI) and a subtype of familial Creutzfeldt-Jakob disease (CJD), two clinically and pathologically distinct diseases, are linked to the same mutation at codon 178 (Asn178) of the prion protein gene. The possibility that a second genetic component modified the phenotypic expression of the Asn178 mutation was investigated. FFI and the familial CJD subtype segregated with different genotypes...
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