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Creutzfeldt-Jakob Disease

BiHan, Fiona, Selena, Catherine

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What is it?

Origin

Creutzfeldt-Jakob Disease: An infectious and neurodegenerative disease named after Gerhard Creutzfeldt and Alfons Maria Jakob.

  • Cells of the central nervous system stop working because of the presence of Prions

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  • First discovered in Germany by scientists Hans Gerhard Creutzfeldt and Alfons Maria Jakob.
  • Walther Spielmeyer coined the name Creutzfeldt-Jakob disease, later shortened to CJD

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What are Prions?

Prions: Infectious proteins that cause other proteins to fold abnormally, specifically the brain.

  • Misfolded proteins can not be used.

Proteins: Makes up a huge part of our body from muscles to parts of our brain and enzymes

Enzymes: Used to speed up reactions, so we can have enough final products.

Ex: When we eat, we need enough nutritious food for our body to function.

  • Enzymes are required to be in a very specific shape.
  • Misfolded proteins won’t fit into the enzymes, thus no reaction will occur, leading to loss of function.

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Diagnosis

Clinical Assessment: Doctors can diagnose CJD through medical history, symptoms and neurological examination.

Ex:

  • MRI Scans
  • Cerebrospinal Fluid Analysis : elevated levels of 14-3-3– protein or specific markers can support the diagnosis
  • Brain Biopsy : examination of brain tissue.

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Early Symptoms:

  • Memory loss and confusion
  • Mood swings, depression, and behavioral changes
  • Blurred vision or hallucinations.

Progressive Symptoms:

  • Loss of coordination and balance
  • Muscle Stiffness or involuntary jerks
  • Slurred speech or difficult time finding words

Severe Symptoms:

  • Coma
  • Can’t take care of themselves and need assistance with daily activities.

Prognosis:

  • Progresses rapidly, with patients often becoming worse over time.
  • Most individuals with CJD die within one year, though some may survive longer.

Symptoms & Prognosis

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Types of CJD

  1. Sporadic: 85% of the cases.
  2. Familial: 10-15% of the cases caused by inherited mutations in the PRNP gene.
  3. Iatrogenic: Acquired through medical procedures such as the transplantation of infected tissues, injections of contaminated human growth hormone, and use of contaminated surgical instruments.
  4. Variant: linked to the consumption of beef infected with BSE (Bovine Spongiform Encephalopathy) disease.

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Treatment and Risks

Currently no cure for Creutzfeldt-Jakob Disease, but there are treatments that focus on reducing pain and symptoms.

Ex: Antidepressants and painkillers

Risk Factors:

1. Age

      • Sporadic CJD usually develops around age 60
      • Familial CJD tends to develop earlier.
      • Variant CJD can occur around your late 20s

2. Genetics

      • For those with genetic risks, early detection of a PNAP mutation can improve the quality of life

3. Contamination

      • Medical procedures, instruments, injections.
      • Consuming contaminated beef.

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Why Is It Important?

CJD is very rare disease caused by a unique misfolded of proteins, setting it apart from other diseases. As of right now, there is no cure for CJD, making research vital for developing potential treatments. The history of CJD, especially vCJD had shaped food safety regulations and public health policies. Scientists are still researching to provide more information about this topic to help better understand other brain diseases, like Alzheimer’s and Parkinson’s.