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

被引：18

作者：

Furukawa, H

Kitamoto, T

Hashiguchi, H

Tateishi, J

机构：

[1] TOHOKU UNIV, SCH MED, DEPT NEUROL SCI, SENDAI, MIYAGI 980, JAPAN

[2] SHIMONOSEKI WELF HOSP, DEPT NEUROL, SHIMONOSEKI, YAMAGUCHI, JAPAN

来源：

JOURNAL OF THE NEUROLOGICAL SCIENCES | 1996年 / 141卷 / 1-2期

关键词：

Creutzfeldt-Jakob disease; prion protein; dementia;

D O I：

10.1016/0022-510X(96)00157-8

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

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.

引用

页码：120 / 122

页数：3

共 5 条

[1] LINKAGE OF A PRION PROTEIN MISSENSE VARIANT TO GERSTMANN-STRAUSSLER SYNDROME [J].