Creutzfeldt Jakob disease is a lethal brain disorder with a variety of symptoms.
What is Creutzfeldt Jakob Disease?
Creutzfeldt-Jakob disease (CJD) is a disorder where the brain is damaged, leading to a marked and rapid decrease of motor skills and mental functioning. It is “rare, degenerative, (and) invariably fatal”. There are only about 200 US cases of CJD per year, and it typically affects the elderly. Most people die within one year of getting CJD. Symptoms include visual disturbances, behavioral changes, failing memory, and lack of coordination. Towards the end of this rapidly progressive and degenerative disease, patients may experience blindness, mental deterioration, weakness of extremities and involuntary movements, as well as coma. There are three types of CJD. Acquired CJD, the least common form, is when the patient contracts the disease during certain medical procedures (where the brain or nervous system tissues are in contact with CJD). Hereditary CJD accounts for some of the cases, where there is a family history or genetic mutation. Most of the cases are sporadic CJD, where the “disease appears even though the person has no known risk factors”. Creutzfeldt-Jakob disease is part of the animal and human disease category of “transmissible spongiform encephalopathies (TSEs)”. The term spongiform originates from the appearance of the brains, as they become “filled with holes” and start to look like sponges, due to the infection. There are a few other human TSEs, and a more commonly known animal infection known as “bovine spongiform encephalopathy (BSE)” or “mad cow disease”. Similar diseases can affect other animals as well.1 Patients with CJD first show signs of the disease with dementia, memory loss, and personality changes. They can have mood disorders, hallucinations, and psychosis. Physical problems include difficulty with speech, jerky movements, and seizures. Patients can die within weeks or months, although some may have symptoms for years. Pneumonia is often a cause of death in CJD, due to problems with the coughing reflex.2
Causes of CJD
Creutzfeldt-Jakob disease became famous in the 1990s when some people developed a form of it (variant CJD or vCJD), in the United Kingdom, from eating contaminated beef. “Classic” CJD has not been linked to cattle. vCJD can affect younger people, but this disease variation is more rare.3 CJD is caused by an infection. The infection comes from “misfolded proteins”, called prions, which reproduce by changing the normally folded proteins. The prions cause neurodegeneration, with
holes in the brain. While most cases are sporadic, and some are familial, the form of CJD that comes from medical procedures, sometimes called iatrogenic, can be spread by meningeal transplants, corneal transplants, or using “human-derived pituitary growth hormones”. A similar disorder, kuru, was thought to have been transmitted via cannibalism in Papaua New Guinea. The prions form amyloids (protein aggregates), and where the nerve cells are dead, holes can be seen under the microscope. Prions increase exponentially. Because of transmission fears, blood donations have come under restrictions when donors have traveled to certain parts of the world, or if donors have a biological relative with CJD. There is no known treatment for CJD, but research is ongoing.4 Iatrogenic CJD can be prevented if hospitals follow safety measures such as using only synthetic human growth hormone, destroying infected instruments, and utilizing only single-use spinal tap (lumbar puncture) kits. Strict blood donation restrictions should be employed. As for vCJD, it is important that BSE doesn’t enter the food supply; therefore animals should be tested regularly, and other safety measures should be followed, to prevent infected tissue from spreading.5