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Creutzfeldt Jakob DiseaseCreutzfeldt-Jakob Disease: Causes, Symptoms, Types, Drugs, Diagnosis and Treatment

Commonly asked questions about Creutzfeldt-Jakob Disease:

What is Creutzfeldt-Jakob Disease?

Creutz-feldt Jakob Disease (pronounced KROITS-felt YAH-kobe) is a degenerative brain disorder that leads to dementia and, ultimately, death.

What differentiates Creutzfeldt-Jakob Disease from other brain disorders, including Alzheimer’s Disease, is the fact that it moves much more rapidly.

Creutzfeldt-Jakob Disease is a terminal disease, but it is rare. CJD is the least common form of dementia diseases, and typically diagnosed in senior citizens. Worldwide, an estimated one in 1 million will be diagnosed with CJD each year.

What Causes Creutzfeldt-Jakob Disease (CJD)?

A prion, an abnormal protein found in the brain, is the main cause of Creutzfeldt-Jakob Disease.

The anatomy of proteins that run normally in bodies begin as a string of amino acids that then fold themselves into a three-dimensional shape. This process is known as “protein folding” and, although mistakes occur during the protein folding process, these prion proteins are typically recycled within the body — otherwise they build up in the brain.

If there is build up in the brain, they cause other prion proteins to misfold as well. This, in turn, causes brain cells to die and release more prions that affect more of them.

Eventually, clusters will start to form and plaques may appear in the brain. Prion infections also create small holes and cause mental and physical impairment, which ultimately leads to death.

What are the Symptoms for Creutzfeldt-Jakob Disease (CJD)?

CJD is marked by rapid mental deterioration, usually within a few months.

Mental symptoms worsen as the disease progresses and cause most people to lapse into a coma. Heart and respiratory failure, along with pneumonia, are generally the cause of death within a year.

According to the Mayo Clinic, symptoms and signs include:

  • Personality changes
  • Anxiety
  • Depression
  • Memory loss
  • Impaired thinking
  • Blurred vision or blindness
  • Insomnia
  • Difficulty speaking
  • Difficulty swallowing
  • Sudden, jerky movements

People with the rarer Varient Creutzfeldt-Jakob Disease (vCJD) may experience the loss of the ability to think, reason, and remember.

What are the Risk Factors for Creutzfeldt-Jakob Disease (CJD)?

Most cases of CJD indicate that the cause of CJD is unknown and no risk factors can be identified. However, a few factors may be associated with different types of CJD. These include:

  • Age:
    • Sporadic CJD: Tends to develop later in life, among those over the age of 60.
    • Familial CJD: Occurs slightly earlier than vCJD and has affected people in their late 20s.
  • Genetics:
    • Familial CJD: This disease is inherited in an autosomal dominant fashion and is the result of a genetic mutation. You need to inherit only one copy of the mutated gene, from either parent, to attain the disease. Your chance of passing it on to your children is 50 percent.
    • Iatrogenic and vCJD: Inheriting identical copies of certain variants of the prion gene may increase your risk of developing Creutzfelt-Jakob Disease if exposed to the contaminated tissue.
  • Exposure to contaminated tissue:
    • People who’ve received human growth hormone derived from human pituitary glands or have grafts of tissue that cover the brain may be at risk of Iagtrogenic CJD.
    • In the 1900s, contaminated beef was one of the causes of CJD. The risk of contracting it now is virtually nonexistent if countries are effectively implementing public health measures.

What are the Types of Creutzfeldt-Jakob Disease (CJD)?

  • Sporadic CJD: Accounts for at least 85% of cases with Creutzfeldt-Jakob Disease and therefore is the most common. This however, appears even though the patient has no known risk factors.
  • Familial CJD: 5%-10% of patients in the United States with CJD are hereditary. This person has a diseased within their family or acquires the abnormal prion from a parent.
  • Acquired CJD: This type of CJD contains the variant CJD (vCJD) and is usually transmitted by exposure to the brain or nervous system tissue via medical procedures. Fewer than 1 percent inherit acquired CJD.

How is Creutzfeldt-Jakob Disease (CJD) Diagnosed?

A brain biopsy or an examination of brain tissue after death is the only way to prove that Creutzfeldt Disease is present. However, doctors can accurately predict the presence of CJD based on personal and medical history, a neurological exam, and certain diagnosis tests. The most common procedures used to diagnose CJD include:

  • Electroencephalogram (EEG): Measures brain activity by locating electrodes on the scalp. Patients with CJD as well as vCJD show an abnormal pattern.
  • MRI: An imaging technique that uses radio waves and a magnetic field to create cross-sectional images of your head and body. It highlights the brain’s white and gray matter, therefore is useful when detecting brain disorders.
  • Spinal fluid tests: Lumbar puncture, a commonly known procedure, is used to test a small amount of cerebral spinal fluid with a needle. The presence of a particular protein tends to indicate the presence of CJD.

What is the Treatment for Creutzfeldt-Jakob Disease (CJD)?

Even though a number of drugs — including steroids, amantidine, acyclovir, antibiotics, and antiviral agents — have been tested, there is still no effective treatment for CJD. Therefore, doctors tend to focus more on relieving pain and allowing the patient to become as comfortable as possible to treat the disease.

What Drugs are Used to Treat Creutzfeldt-Jakob Disease (CJD)?

The following drugs and medications are, in some way related to, or used in the treatment of CJD, according to USFHealth.org:

  • Clonazepam
  • Sodium valproate

These drugs may help reduce the irregular jerking movements that come with CJD.

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