Creutzfeldt-Jakob Disease

Summary

Creutzfeldt-Jakob disease or CJD is a deadly neurodegenerative disorder that is caused by the accumulation of prion proteins in brain cells. Patients with the disease present with rapidly-progressing dementia over the course of a few weeks, as well as the finding of startle myoclonus. Creutzfeldt-Jakob disease can be diagnosed through a wide range of methods. These include an MRI to detect cortical ribboning, an EEG to observe periodic sharp wave complexes, a lumbar puncture to find 14-3-3 protein in CSF, and finally, a brain biopsy to reveal spongiform encephalopathy. Unfortunately, there is no treatment for the disease and most cases are fatal.

Key Points

• Creutzfeldt-Jakob Disease (CJD)
  • Pathophysiology
    • Prion protein (PrP) leads to rapid neuron death
      • Acquired mutation leads to impaired breakdown and accumulation in neurons
    • Cases may be
      • sporadic (most common)
      • familial (e.g. fatal familial insomnia)
      • infectious/acquired (e.g. Mad Cow Disease, Kuru)
  • Presentation
    • Rapidly progressive dementia
      • Rapid cognitive decline over period of weeks is extremely characteristic
    • Myoclonus (muscle jerks)
      • Classically provoked by startle aka “startle myoclonus”
    • Ataxia
  • Diagnosis
    • MRI
      • Cortical ribboning may be seen
    • EEG
      • Periodic sharp waves
        • Synchronous sharp wave complexes
    • Lumbar Puncture
      • Increased 14-3-3 protein in CSF
    • Neuropathology/Brain Biopsy
      • Spongiform (vacuole) encephalopathy
        • Vacuolization without inflammation in cytoplasm of neurons
  • Treatment
    • No effective treatment; usually fatal