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Article

D178N, 129Val and N171S, 129Val genotype in a family with Creutzfeldt-Jakob disease.

Dementia and geriatric cognitive disorders - 1 Jan 2010

Appleby Brian S, Appleby Kristin K, Hall Ryan C W, Wallin Mitchell T

Abstract excerpt

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...

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Source

Identifiers

PMID: 21071944
DOI: 10.1159/000321472

Genes

PRNP

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