TY - JOUR
T1 - A Japanese case of Creutzfeldt-Jakob disease with a point mutation in the prion protein gene at codon 210
AU - Furukawa, Hisako
AU - Kitamoto, Tetsuyuki
AU - Hashiguchi, Hideyuki
AU - Tateishi, Jun
N1 - Funding Information:
We thank Dr. Shin-ichi Hosokawa and many other neurologists for providing the cases on which our study was based.T his study was supportedb y a Grant-in-Aid for Scientific Research (T.K., J.T.) and a Grant-in-Aid Scien- tific Research on priority Area (J.T.) from the Ministry of Education Science and Culture, and a grant (J.T.) from the Ministry of Health and Welfare, Japan.
PY - 1996/9/15
Y1 - 1996/9/15
N2 - 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.
AB - 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.
KW - Creutzfeldt-Jakob disease
KW - Dementia
KW - Prion protein
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U2 - 10.1016/0022-510X(96)00157-8
DO - 10.1016/0022-510X(96)00157-8
M3 - Article
C2 - 8880705
AN - SCOPUS:0030587512
VL - 141
SP - 120
EP - 122
JO - Journal of the Neurological Sciences
JF - Journal of the Neurological Sciences
SN - 0022-510X
IS - 1-2
ER -