Prion Diseases
Human prion diseases: kuru, Creutzfeldt-Jakob disease (CJD), variant CJD, Gerstmann-Sträussler-Scheinker syndrome (GSS), familial fatal insomnia (FFI). All progressive, fatal.
May be sporadic, infectious, or inherited.
Human prion protein (PrP) encoded by gene on chromosome 20. PrPC: normal cellular form (function unknown). PrPSc (scrapie type): abnormal form accumulates in neurons in prion diseases.
Transmission of abnormal protein alone (no nucleic acid) causes disease; three-dimensional structure important in pathogenesis.
Familial forms (GSS, FFI, 5–10% of patients with CJD) caused by mutations in prion protein gene (PrP).
Common pathology: spongiform degeneration of brain parenchyma; accumulation of PrPSc forming aggregates in neurons and extracellular amyloid deposits; no inflammation.
Kuru
Affected Fore people of New Guinea. Severe trunk, limb, gait ataxia, involuntary movements, convergent strabismus, dementia. Cerebellum most affected. Fatal in 4–24 months. Disappeared with abolition of cannibalism.
Creutzfeldt-Jacob Disease
Progressive disease of cortex, basal ganglia, spinal cord.
Epidemiology
Occurs worldwide. Incidence 1 case per 1 million people annually. Middle-aged and older people. 5–10% familial. 5–10% iatrogenic (corneal transplant; dural graft; growth hormone from pooled human pituitary glands).
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