D178N, 129Val and N171S, 129Val Genotype in a Family with Creutzfeldt-Jakob Disease

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. Copyright (C) 2010 S. Karger AG, Basel