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.
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 humanprion disease.
Authors: A Krasnianski; P Sanchez Juan; Claudia Ponto; M Bartl; U Heinemann; D Varges; W J Schulz-Schaeffer; H A Kretzschmar; I Zerr Journal: J Neurol Neurosurg Psychiatry Date: 2013-11-18 Impact factor: 10.154