Creutzfeldt-Jakob disease, a brain disorder characterized by the introduction and spread of incorrectly folded proteins, causes a degeneration of brain capacity and ultimately leads to death. Unfortunately, there is no current treatment for the disease, but by understanding the scope of the condition, you can better comprehend and support the condition in a loved one.

Creutzfeldt-Jakob disease (CJD) is a degenerative neurological condition sometimes referred to as the human form of Mad Cow disease because of the similarities in symptoms, though the two diseases are completely unrelated. In CJD, the tissue of the brain begins to become spongy because of the presence of prions—incorrectly folded proteins, which replicate by infecting their correctly folded counterparts.

Symptoms

Rapidly progressing dementia is the first symptom of Creutzfeldt-Jakob disease. It leads to memory loss, a significant change in personality, and sometimes to hallucinations. There are physical symptoms as well, which can include the following:

  • Impairment of speech
  • Myoclonus: jerky, involuntary muscle contractions
  • Difficulty in balance and coordination
  • Rigid posture and changes in gait
  • Seizures

While the duration of the disease is variable, sometimes symptoms can carry on for years. These symptoms are caused by the gradual death of the brain's nerve cells.

Causes

There are three varieties of the Creutzfeldt-Jakob disease:

  • Sporadic, in which a person has no previously known risk factors.
  • Familial, in which the disease manifests from a genetic predisposition.
  • Variant, the most common form, in which the disease stems from another medical condition or treatment.

Approximately 5 to 10 percent of patients acquire CJD genetically, from a genetic mutation that codes for the particular prion protein. This information is inherited, promoting the incorrectly folded protein to infect others and induce the disease.

The mutated protein can also be transmitted in harvested human brain products, including corneal grafts, electrode implants, or intravenous immunoglobulins. The traditional sterilization methods of surgical equipment do not necessarily inactivate prions, so medical equipment can transfer the infectious proteins to new patients if the proper precautions are not taken. Rarely, the disease can manifest through the use of Human Growth Hormone that has been obtained from the pituitary glands of a person who died from CJD. Blood transfusions and sperm donation can transmit these prions as well, leading to heavy restrictions in the donation process.

Treatments

Though research continues, there is no accepted treatment for this fatal disease. Many experiments have attempted to find a means of halting the disease's progression, but no method has successfully prevented the further loss of brain tissue and function.

Further research is pointing toward RNA interference as a possible means of stopping the disease. The RNA may block the production of proteins that turn into prions. This hypothesis is currently being investigated in mice, though it is many years away from any kind of human testing.