D178N、129Val 和 N171S、129Val 基因型与家族性克雅氏病。

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

机构信息

Division of Geriatric Psychiatry and Neuropsychiatry, Johns Hopkins University School of Medicine, Baltimore, Md., USA.

出版信息

Dement Geriatr Cogn Disord. 2010;30(5):424-31. doi: 10.1159/000321472. Epub 2010 Nov 12.

DOI:10.1159/000321472

PMID: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.

摘要

背景

致死性家族失眠症（FFI）和遗传克雅氏病（CJD(D178N,)(129V))是两种表型，它们在朊病毒蛋白基因（PRNP）的密码子 178 处具有共同的点突变，但在突变等位基因的密码子 129 处的多态性不同。在一个具有强烈精神病史而没有朊病毒病的家族中，已经描述了 PRNP 基因密码子 171 的突变。