Prion dementia without characteristic pathology.

J Collinge; F Owen; M Poulter; M Leach; T J Crow; M N Rossor; J Hardy; M J Mullan; I Janota; P L Lantos

doi:10.1016/0140-6736(90)91518-f

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Prion dementia without characteristic pathology.

J Collinge·F Owen·M Poulter·M Leach·T J Crow·M N Rossor·J Hardy·M J Mullan·I Janota·P L Lantos

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Abstract

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.

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Alleles Alzheimer Disease Brain Chemistry DNA, Viral Humans Male Mutation Oligonucleotide Probes Pedigree Phenotype Polymerase Chain Reaction PrPSc Proteins Slow Virus Diseases Viral Proteins Case Reports Journal Article Research Support, Non-U.S. Gov't

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J Collinge, F Owen, M Poulter, M Leach, T J Crow, M N Rossor, J Hardy, M J Mullan, I Janota, P L Lantos. 1990-07-07. Prion dementia without characteristic pathology.. https://doi.org/10.1016/0140-6736(90)91518-f

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