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

Hisako Furukawa, Tetsuyuki Kitamoto, Hideyuki Hashiguchi, Jun Tateishi

Research output: Contribution to journalArticle

21 Citations (Scopus)

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 languageEnglish
Pages (from-to)120-122
Number of pages3
JournalJournal of the neurological sciences
Volume141
Issue number1-2
DOIs
Publication statusPublished - 1996 Sep 15

Keywords

  • Creutzfeldt-Jakob disease
  • Dementia
  • Prion protein

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

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