Japanese family with Creutzfeldt-Jakob disease with codon 200 point mutation of the prion protein gene

Neurology. 1994 Feb;44(2):299-301. doi: 10.1212/wnl.44.2.299.

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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Cerebellum / metabolism
  • Cerebellum / pathology
  • Codon
  • Creutzfeldt-Jakob Syndrome / genetics*
  • Creutzfeldt-Jakob Syndrome / pathology
  • DNA / blood
  • Deoxyribonucleases, Type II Site-Specific
  • Female
  • Genetic Variation
  • Humans
  • Immunohistochemistry
  • Japan
  • Lymphocytes / metabolism
  • Lysine
  • Male
  • Middle Aged
  • Pedigree
  • Point Mutation*
  • Polymerase Chain Reaction
  • PrPSc Proteins
  • Prions / analysis
  • Prions / genetics*

Substances

  • Codon
  • PrPSc Proteins
  • Prions
  • DNA
  • endodeoxyribonuclease BsmAI
  • Deoxyribonucleases, Type II Site-Specific
  • Lysine