A Japanese case of Creutzfeldt-Jakob disease with a point mutation in the prion protein gene at codon 210

H Furukawa; T Kitamoto; H Hashiguchi; J Tateishi

doi:10.1016/0022-510x(96)00157-8

A Japanese case of Creutzfeldt-Jakob disease with a point mutation in the prion protein gene at codon 210

J Neurol Sci. 1996 Sep 15;141(1-2):120-2. doi: 10.1016/0022-510x(96)00157-8.

Authors

H Furukawa¹, T Kitamoto, H Hashiguchi, J Tateishi

Affiliation

¹ Department of Neurology, Faculty of Medicine, Kyushu University, Fukuoka, Japan.

PMID: 8880705
DOI: 10.1016/0022-510x(96)00157-8

Abstract

We screened 111 cases of sporadic Creutzfeldt-Jakob disease (CJD) and 75 healthy control subjects in Japan to detect possible polymorphisms in their prion protein gene (PRNP). We identified a G-to-A point substitution at codon 210, leading a valine-to-isoleucine change, in a 69-year-old CJD patient. This substitution was not seen in 75 healthy control subjects.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Aged
Creutzfeldt-Jakob Syndrome / genetics*
DNA Probes
Family Health
Humans
Male
Point Mutation*
Polymerase Chain Reaction
Prions / genetics*

Substances

DNA Probes
Prions