Prion dementia without characteristic pathology

Lancet. 1990 Jul 7;336(8706):7-9. doi: 10.1016/0140-6736(90)91518-f.


Gerstmann-Sträussler syndrome (GSS) was diagnosed in a family with presenile dementia by prion protein gene analysis. Extensive histological examination of the brain of an affected individual from this family showed no characteristic features of GSS or Creutzfeldt-Jakob disease (CJD). Thus "spongiform encephalopathy" (GSS or CJD) cannot always be excluded on neuropathological grounds in an individual dying of a dementing condition, and the true prevalence of these diseases is likely to be underestimated. Screening by prion protein gene analysis will help to determine the full clinical and neuropathological phenotype in familial cases. This observation may be relevant to the assessment of possible transmission of bovine spongiform encephalopathy to man.

Publication types

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

MeSH terms

  • Alleles
  • Alzheimer Disease / etiology
  • Alzheimer Disease / genetics*
  • Alzheimer Disease / pathology
  • Brain Chemistry
  • DNA, Viral / analysis*
  • Humans
  • Male
  • Mutation
  • Oligonucleotide Probes
  • Pedigree
  • Phenotype
  • Polymerase Chain Reaction
  • PrPSc Proteins
  • Slow Virus Diseases / complications
  • Slow Virus Diseases / genetics*
  • Slow Virus Diseases / pathology
  • Viral Proteins / genetics*


  • DNA, Viral
  • Oligonucleotide Probes
  • PrPSc Proteins
  • Viral Proteins