Creutzfeldt-Jakob disease

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By Raymond P Roos MD

Creutzfeldt-Jakob disease is also known as or subsumes Heidenhain syndrome, Jakob-Creutzfeldt disease, Spastic pseudosclerosis. -ed.

Dr. Raymond Roos, Marjorie and Robert E Straus Professor in Neurological Science at the University of Chicago Medical Center, reviews Creutzfeldt-Jakob disease, a member of the group of diseases known as prion diseases, or the subacute spongiform encephalopathies. Creutzfeldt-Jakob disease has a subacute clinical course and distinctive gray matter pathology. This disease is transmissible and is induced by an abnormal form of the prion protein that is extremely resistant to physical and chemical inactivation. The unusual nature of the transmissible agent and the emergence of variant Creutzfeldt-Jakob disease (as a result of ingestion of contaminated beef) have had a significant impact on public health in addition to science and medicine. New information suggests that there will not be an epidemic of variant Creutzfeldt-Jakob disease. New diagnostic tests and new ideas about treatment of Creutzfeldt-Jakob disease are noted.

Key Points

  • The transmissible subacute spongiform encephalopathies, or prion diseases, have a similar noninflammatory spongiform pathology and are caused by a similar transmissible agent -- an abnormal (“scrapie-like”) protease-resistant conformation of the prion protein (PrP), which is designated PrPSc.
  • Creutzfeldt-Jakob disease is a subacute fatal disease with a clinical triad of dementia, myoclonus, and EEG abnormalities that is usually also associated with other neurologic abnormalities, along with neuropathological evidence of neuronal loss, spongiform changes, and astrocytosis.
  • Iatrogenic cases of Creutzfeldt-Jakob disease have been described related to corneal transplantation, implantation of intracerebral electrodes (inadequately sterilized with formaldehyde), growth hormone injection (from pooled pituitary glands), and dura mater implantation (from pooled dura maters).
  • A variant form of Creutzfeldt-Jakob disease caused by bovine spongiform encephalopathy (mad cow disease) is distinctive because of the relative young age of the patients, frequent behavioral abnormalities early in the disease, few EEG abnormalities, an MRI finding of increased signal in the pulvinar, and abundant “florid” plaques in the brain (similar to those seen with kuru).
  • Prion diseases are transmissible after a prolonged incubation period by inoculating the infected CNS into nonhuman primates and some other species via multiple routes of inoculation; however, transmission is most efficient with an intracerebral inoculation into a species identical to the source of the infected CNS tissue.