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  • Title: D178N, 129Val and N171S, 129Val genotype in a family with Creutzfeldt-Jakob disease.
    Author: Appleby BS, Appleby KK, Hall RC, Wallin MT.
    Journal: Dement Geriatr Cogn Disord; 2010; 30(5):424-31. PubMed ID: 21071944.
    Abstract:
    BACKGROUND: Fatal familial insomnia (FFI) and genetic Creutzfeldt-Jakob disease (CJD(D178N,)(129V)) are two phenotypes that share a common point mutation at codon 178 of the prion protein gene (PRNP), but differ in their polymorphism at codon 129 of the mutant allele. A mutation at codon 171 of the PRNP gene has been described in a family with a strong psychiatric history without prion disease. METHODS: Clinical and genetic information of a family with CJD was obtained from medical records and family informants. RESULTS: We identified an African-American family with molecular and genetically confirmed CJD(D178N,)(129V) that also carried the N171S, 129V polymorphism and had a strong psychiatric clinical presentation. CONCLUSION: This is a complex family that carries the D178N, 129V and N171S, 129V genotype. This report is the first description of both genotypes occurring within a family with genetic human prion disease.
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