Japanese family with creutzfeldt–jakob disease with codon 200 point mutation of the prion protein gene

I. Inoue, T. Kitamoto, K. Dohura, H. Shii, I. Goto, J. Tateishi

Research output: Contribution to journalArticlepeer-review

41 Citations (Scopus)

Abstract

We report the first Japanese case of familial Creutzfeldt-Jakob disease (CJD) with the heterozygous point mutation at codon 200 of the prion protein gene. This suggests that the mutation is not race-specific. The clinical and pathologic features of this case are not different from those of sporadic CJD without point mutations. Some healthy members of the family also carry the same mutation in the autosomal dominant inheritance expression.

Original languageEnglish
Pages (from-to)299-301
Number of pages3
JournalNeurology
Volume44
Issue number2
DOIs
Publication statusPublished - 1994 Feb
Externally publishedYes

ASJC Scopus subject areas

  • Clinical Neurology

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