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

研究成果: Article査読

41 被引用数 (Scopus)

抄録

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.

本文言語English
ページ(範囲)299-301
ページ数3
ジャーナルNeurology
44
2
DOI
出版ステータスPublished - 1994 2
外部発表はい

ASJC Scopus subject areas

  • 臨床神経学

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