Presymptomatic detection or exclusion of prion protein gene defects in families with inherited prion diseases

Am J Hum Genet. 1991 Dec;49(6):1351-4.


The identification of defects in the prion protein (PrP) gene in families with inherited Creutzfeldt-Jakob disease or Gerstmann-Straussler syndrome allows presymptomatic diagnosis or exclusion of these disorders in subjects at risk. After counseling, PrP gene analysis was performed in three such individuals: two from families with a 144-bp insert and one with a point mutation at codon 102 in the PrP gene. The presence of a PrP gene defect was confirmed in one and excluded in two. Despite the potential problems of using PrP gene analysis in genetic prediction - specifically, uncertainty about penetrance and, generally, problems of presymptomatic testing in any inherited late-onset neurodegenerative disorder - we conclude that it has a role to play in improved genetic counseling for families with inherited prion diseases.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Base Sequence
  • Creutzfeldt-Jakob Syndrome / diagnosis
  • Creutzfeldt-Jakob Syndrome / genetics*
  • Female
  • Genes, Viral
  • Genetic Counseling
  • Gerstmann-Straussler-Scheinker Disease / diagnosis
  • Gerstmann-Straussler-Scheinker Disease / genetics*
  • Humans
  • Male
  • Middle Aged
  • Molecular Sequence Data
  • Mutation*
  • PrPSc Proteins
  • Prions / genetics*
  • Risk Factors
  • Viral Structural Proteins / genetics


  • PrPSc Proteins
  • Prions
  • Viral Structural Proteins