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.
| Original language | English |
|---|---|
| Pages (from-to) | 120-122 |
| Number of pages | 3 |
| Journal | Journal of the neurological sciences |
| Volume | 141 |
| Issue number | 1-2 |
| DOIs | |
| Publication status | Published - 1996 Sep 15 |
Keywords
- Creutzfeldt-Jakob disease
- Dementia
- Prion protein
ASJC Scopus subject areas
- Neurology
- Clinical Neurology
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Cite this
Furukawa, H., Kitamoto, T., Hashiguchi, H., & Tateishi, J. (1996). A Japanese case of Creutzfeldt-Jakob disease with a point mutation in the prion protein gene at codon 210. Journal of the neurological sciences, 141(1-2), 120-122. https://doi.org/10.1016/0022-510X(96)00157-8