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Human prion diseases (spongiform encephalopathies)

H A Kretzschmar1

  • 1Department of Neuropathology, University of Göttingen, Federal Republic of Germany.

Archives of Virology. Supplementum
|January 1, 1993
PubMed
Summary

Human prion diseases like Creutzfeldt-Jakob disease are transmissible neurodegenerative disorders caused by infectious proteins called prions. Genetic mutations in the prion protein gene are linked to these conditions, suggesting a new classification system is emerging.

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Area of Science:

  • Neurology
  • Molecular Biology
  • Genetics

Background:

  • Prion diseases, including Creutzfeldt-Jakob disease (CJD), Gerstmann-Sträussler-Scheinker syndrome (GSS), and kuru, are progressive neurological disorders.
  • Characterized by dementia and ataxia, neuropathology reveals spongiform degeneration, amyloid plaques, and neuronal loss in the central nervous system.
  • Initially considered neurodegenerative, human spongiform encephalopathies were recognized as transmissible diseases akin to scrapie in sheep.

Purpose of the Study:

  • To explore the nature of the infectious agent in prion diseases.
  • To investigate the role of prion protein gene mutations in heritable human prion diseases.
  • To propose a basis for a new classification of prion diseases.

Main Methods:

  • The study reviews existing literature and research findings on human prion diseases.

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  • It focuses on the prion hypothesis, which posits an infectious agent composed of protein without nucleic acid.
  • Genetic analysis of prion protein (PrP) gene mutations in relation to disease phenotypes is examined.

    • Main Results:

    • The infectious agent, termed prion, is a protein devoid of functional nucleic acid.
    • Mutations in the prion protein gene are associated with heritable human prion diseases.
    • Different mutations correlate with distinct clinical and pathological features, with some mutations presenting atypical disease patterns.

    Conclusions:

    • The prion hypothesis provides a unifying explanation for these transmissible spongiform encephalopathies.
    • Genetic evidence strongly supports the link between PrP gene mutations and familial prion diseases.
    • A molecular and biochemical classification of prion diseases is anticipated based on prion protein characteristics.