Article
Molecular pathology of fatal familial insomnia.
Brain pathology (Zurich, Switzerland) - 1 Jul 1998
Parchi P, Petersen R B, Chen S G, Autilio-Gambetti L, Capellari S, Monari L, Cortelli P, Montagna P, Lugaresi E, Gambetti P
Abstract excerpt
Fatal familial insomnia (FFI) is linked to a mutation at codon 178 of the prion protein gene, coupled with the methionine codon at position 129, the site of a methionine/valine polymorphism. The D178N mutation coupled with the 129 valine codon is linked to a subtype of Creutzfeldt-Jakob disease (CJD178) with a different phenotype. Two protease resistant fragments of the pathogenic PrP (PrPres), which differ in...
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