Creutzfeldt Jakob: Information on Causes, Diagnosis & Treatments

Creutzfeldt-Jakob Disease Overview

Spongy Brain Matter Creutzfeldt Jakob Creutzfeldt-Jakob Disease (CJD) is classified as one of the many transmissible spongiform encephalopathy (TSE) conditions. The disease was named because of its spongy whole appearance in affected brain tissue when viewed under a microscope. Like all TSEs diseases, Creutzfeldt-Jakob disease appears to be an abnormal form of prion protein that is usually harmless. However, due to the abnormality, the protein becomes infectious and can cause damage to normal biological processes in the body.

Who Gets Creutzfeldt-Jakob Disease?

The risk of developing Creutzfeldt-Jakob disease is extremely low. The condition is not contagious and cannot be transmitted through sexual contact, touching, sneezing, or coughing. The people most at risk of developing Creutzfeldt-Jakob disease include:

  • Sporadic Populations – Most individuals who develop classic cases of Creutzfeldt-Jakob disease are not associated with any category. Doctors often referred to this type of the condition as sporadic or spontaneous that account for most cases of Creutzfeldt-Jakob disease.

  • Genetic Predisposition – Up to ten percent of individuals suffering from Creutzfeldt-Jakob disease are genetically predisposed to the condition because of their family medical history. This small population of affected patients tests positive for a familial acquired genetic mutation associated with the disease.

  • Acquired through Medical Procedures – Some individuals develop the condition after an exposure to contaminated human tissue while undergoing a medical procedure including transplants involving skin grafts and the cornea. Standard sterilization methods used in biological tissue transplants are uncapable of destroying abnormal prions. Other cases of contaminated tissue occur in patients who have undergone brain surgery using infected instruments.

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Specific Risk Factors and Causes of CJD

Doctors and scientists have yet to determine the reasons for most cases involving Creutzfeldt-Jakob disease. Even though no specific risk factors have been identified there seem to be some factors related to the development of different forms of the disease. These include:

  • Age – Spontaneous Creutzfeldt-Jakob disease cases seem to develop in older patients who are 60 years or older. The onset development of familial (inherited) CJD seems to happen at earlier ages.

  • Genetics – Individuals who are genetically predisposed (familial) to the CJD genetic mutation seem to have inherited only a single copy of the mutated gene. Some studies have found that individuals with an inherited copy of specific CJD variance are at higher risk of developing Creutzfeldt-Jakob disease after being exposed to contaminated biological tissue.

  • Contaminated Tissue Exposure – Cases of Creutzfeldt-Jakob Disease might have developed from individuals who received human growth hormone that was originally derived from pituitary glands or received a tissue graph covering the durum matter of the brain.

Scientists have yet to determine if the risk of contracting Creutzfeldt-Jakob disease is higher after consuming contaminated beef.

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Common Symptoms

The condition is often categorized as progressively worsening dementia in individuals who have trouble with their muscle coordination, memory, judgment, changes in their personality, impaired vision and cognitive thinking. In the progressive stages of the illness, many individuals suffer severe mental impairment followed by myoclonus (involuntary muscle jerking), and possibly, blindness.

The most common symptoms associated with Creutzfeldt-Jakob disease vary greatly among individuals. However, nearly all patients suffering from the condition will experience at least one of the symptoms below including:

  • Agitation and mood swings

  • Anxiety

  • Intense feeling of despair

  • Irritability

  • Depression

  • Difficulty in walking

  • Insomnia (difficulty in sleeping)

  • Progressively worsening signs of disorientation, confusion, and issues with thinking, memory, judgment, and planning.

  • Muscle stiffness

  • Involuntary jerking movements

  • Muscle twitching

In the advanced progressive stages of Creutzfeldt-Jakob disease, the patient may experience neurological symptoms that involve:

  • Dysphagia (difficulty in swallowing)

  • Blindness

  • Loss of bowel and bladder control

  • Loss of speech

  • Muscle spasms

  • Diminished physical coordination that affects body functions including speaking, walking, and balance

  • Uncontrollable involuntary movement

  • Aggressive behavior

  • Severe loss of memory

  • Inappropriate or unusual emotional response

  • Paranoia

  • Unexpected weight loss due to diminished appetite

  • Difficulty in concentration

Many symptoms suffered by individuals who have been diagnosed with Creutzfeldt-Jakob disease are quite like the symptoms of other progressive neurological disorders including Huntington’s and Alzheimer’s disease. However, many of the unique abnormal characteristics of Creutzfeldt-Jakob disease can be visually identified in autopsies, which is different from Alzheimer’s and Huntington’s disease. In addition, many of the symptoms seem to occur much more rapidly as the person’s abilities begin to deteriorate because of the condition.

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Diagnosing the Condition

Medical science has yet to develop a single diagnostic test to verify the presence of Creutzfeldt-Jakob disease. However, when the physician suspects the patient is suffering from CJD, they usually attempt to rule out other dementia conditions that can be treated including chronic meningitis and encephalitis (brain inflammation). Positive results in neurological examinations are often obtained through standard diagnostic tests like an electroencephalogram that records electrical patterns of the brain and spinal taps to capture spinal cord fluid to verify or rule out the causes of dementia.

Magnetic resonance imaging (MRI) scans and computerized tomography (CT) scans of the patient’s brain can rule out symptoms related to brain tumors and strokes while revealing characteristic brain degeneration patterns that can help verify the presence of Creutzfeldt-Jakob disease.

Absolute confirmation of a Creutzfeldt-Jakob disease diagnosis can only be achieved in a brain biopsy or autopsy. If the doctor obtains a biopsy from the brain in some cases, a neurosurgeon can remove a small portion of brain tissue from the patient that can be examined by a qualified neuropathology is. However, even if the diagnosis is conclusive, it does not always provide help to the individual suffering from the disorder. Autopsies can absolutely verify the disease when the whole brain can be examined through numerous procedures including under a microscope after the patient has died.

Medical science is in the developing stage of creating laboratory tests that can verify the presence of Creutzfeldt-Jakob disease.

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Treating Creutzfeldt-Jakob Disease

Doctors have not yet developed an effective treatment to cure or stop the progression of Creutzfeldt-Jakob disease in any variant of the condition. Doctors have prescribed antiviral agents, antibiotics, and steroids – but few have shown significant benefits. Instead, doctors attempt to treat the condition’s symptoms by alleviating pain and taking steps to ensure the patient remains as comfortable with their new changes as possible. Some of these treatments involve medications for depression, anxiety and uncontrollable muscle movement and tremors.

In the early stages of Creutzfeldt-Jakob disease, the doctor will likely recommend that the patient develop an advanced directive (advanced decision) sold their caregivers understand the patient’s treatment preferences in advance. The patient should instruct others in the advanced directive as to whether they:

  • Want to receive their treatment for the disease at home, at the hospital, or hospice during the final stages.

  • Want to receive medication should certain life-threatening circumstances arise.

  • Would be willing to receive nutrients through a feeding tube if they lose the ability to swallow liquids and food.

  • Whether they want to be resuscitated during an emergency event.

During the final stages of Creutzfeldt-Jakob disease, many patients become completely bedridden and are often unaware of things or people in their surroundings. The patient often becomes unable to speak or communicate with caregivers. Death is usually the result of some condition associated or exacerbated by the disease including a lung infection (pneumonia) and/or respiratory failure.

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Sources:

https://www.ninds.nih.gov/Disorders/Patient-Caregiver-Education/Fact-Sheets/Creutzfeldt-Jakob-Disease-Fact-Sheet

https://www.cdc.gov/prions/cjd/

http://www.mayoclinic.org/diseases-conditions/creutzfeldt-jakob-disease/basics/definition/con-20028005

https://my.clevelandclinic.org/health/articles/creutzfeldt-jakob-disease

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