Prion Diseases

Prion diseases, or transmissible spongiform encephalopathies (TSEs), are rare, progressive neurodegenerative disorders caused by abnormal prion proteins. Unlike other pathogens, prions lack DNA or RNA.

  • Creutzfeldt-Jakob Disease (CJD): The most common prion disease in humans, presenting in sporadic, familial, or acquired forms. Symptoms include rapid dementia, muscle stiffness, involuntary movements, and eventually coma and death.
  • Variant Creutzfeldt-Jakob Disease (vCJD): Associated with consuming prion-contaminated beef, particularly from bovine spongiform encephalopathy (BSE), or "mad cow disease." It has a younger onset age and may present with psychiatric symptoms.
  • Gerstmann-Sträussler-Scheinker Syndrome (GSS): A rare inherited prion disease causing ataxia, dementia, and other neurological symptoms, linked to mutations in the prion protein gene (PRNP).
  • Fatal Familial Insomnia (FFI): An inherited prion disease marked by progressive insomnia, autonomic dysfunction, and dementia, also caused by mutations in the PRNP gene.

Currently, prion diseases have no cure and are invariably fatal. Treatment focuses on symptom management and supportive care. Prevention includes avoiding contaminated meat and implementing stringent infection control in healthcare settings.

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