Creutzfeldt-Jakob disease – degenerative brain disorder

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Creutzfeldt-Jakob disease is a degenerative brain disorder that leads to dementia and eventually death. Symptoms of the condition are similar to those of other brain disorders such as dementia or Alzheimer’s, but Creutzfeldt-Jakob disease has a more rapid evolution.

This condition has captured public attention in 1990 when many people in the UK have developed a form of the disease after consuming beef infected with mad cow disease. However, classically, the condition is not related to the consumption of contaminated beef.

Worldwide, the incidence of Creutzfeldt-Jakob disease is one case per million annually and is manifested most often in older people.


1. Overview
2. Symptoms
3. Causes
4. Transmission
5. Risk factors
6. Complications
7. Diagnosis and investigations


Creutzfeldt-Jakob disease is characterized by a rapid mental deterioration usually within a few months.
Signs and symptoms of the disease include:
- Changes in personality
- Anxiety
- Depression
- Memory loss
- Impaired thinking
- Blurred vision
- Insomnia
- Difficulty speaking
- Difficulty swallowing
- Sudden spasmodic movements.

As the disease progresses, mental symptoms worsen and most of the patients go into a coma. This disease cause heart failure, respiratory failure, pneumonia and other infections, which are generally causes of death. Life after the disease is diagnosed is about 7 months, although some people have survived even one or two years after diagnosis.

In people diagnosed with mad cow disease, psychiatric symptoms are more pronounced in the early phase of the disease being present dementia and loss of ability to think. This disease affects younger people and life expectancy is 12-14 months.


Creutzfeldt-Jakob disease and its forms belong to a large group of human and animal diseases known as transmissible spongiform encephalopathies.

The cause of Creutzfeldt-Jakob disease and transmissible spongiform encephalopathies appears to be a type of abnormal protein called prion. Normally, proteins are harmless, but when they are modified, they become infectious and can adversely affect normal biological processes.


The risk of a person to contact Creutzfeldt-Jakob disease is quite low. Disease can’t be transmitted through coughing, kissing, touching or sexual contact. The three forms in which it is found are:

- Spontaneous form – most people who are diagnosed with classic form of Creutzfeldt-Jakob disease, a spontaneously development, without any apparent reason and is one of the most common manifestation forms of the disease.

- The form characterized by genetic mutations – many people who experience the condition have a family history of the disease or have genetic mutations associated with Creutzfeldt-Jakob disease. This form of the disease is mentioned in literature as familial Creutzfeldt-Jakob disease.

- Developed as a result of contamination – a small number of people have developed Creutzfeldt-Jakob disease after being exposed to infected human tissue during a medical procedure such as corneal transplant or skin transplant. Because prions are not destroyed by standard sterilization methods, some people have contacted Creutzfeldt-Jakob disease after brain surgery with contaminated instruments. Cases of Creutzfeldt-Jakob disease related medical procedures are referred to as iatrogenic Creutzfeldt-Jakob disease.

Risk factors

Most cases of Creutzfeldt-Jakob occur for unknown reasons and risk factors can’t be identified. However, some of the risk factors seem to be associated with different forms of Creutzfeldt-Jakob disease:

- Age – Creutzfeldt-Jakob disease that occurs sporadic, tends to develop mostly in elderly people (over 60 years). Familial Creutzfeldt-Jakob disease onset occurs slightly earlier, while mad cow disease has affected quite young people.

- Genetics – in those suffering from familial Creutzfeldt-Jakob disease the cause is the presence of a genetic mutation that causes the disease. The condition is inherited in an autosomal dominant manner, which means that it suffices to inherit only one copy of the mutated gene for the disease to develop. If a person has the mutation, the risk of transmitting it to their children is 50%.

- Exposure to contaminated tissue – people who used human growth hormone derived from human pituitary glands of infected persons have an increased risk to manifest iatrogenic Creutzfeldt-Jakob disease.


As with other causes of dementia, Creutzfeldt-Jakob disease affects mental abilities in a quite serious manner. Disease progresses very quickly. People who suffer from this condition prefer solitude and lose their ability to recognize their friends and family, can’t take care of them and eventually end up in a coma. The disease is fatal. Physical complications that can be life threatening are:
- Infections
- Heart failure
- Respiratory failure.

Diagnosis and investigations

Only a brain biopsy and an examination of brain tissue after death (autopsy) can confirm the presence of Creutzfeldt-Jakob disease. Most times doctors can say the correct diagnosis based on medical and personal history, neurological examination and certain diagnostic tests.

Patient examination is designed to detect symptoms of disease, but also muscle spasms, abnormal reflexes and coordination problems. People suffering from Creutzfeldt-Jakob disease may manifest partial blindness and visual-spatial perception changes. In addition, doctors use these tests for Creutzfeldt-Jakob disease:

- EEG – using electrodes placed on the scalp will measure electrical activity of the brain. Those who developed the disease will present a characteristic model, an abnormal electroencephalogram.

- Magnetic Resonance Imaging (MRI) – This technique uses radio waves and magnetic fields to create images of the head and body cross. It is particularly useful in diagnosing brain disorders.

- Analysis of CSF – cerebral spinal fluid surrounds and protects the brain and spinal cord. By using a lumbar puncture, the doctor will remove and analyze the cerebrospinal fluid. The presence of certain proteins in cerebrospinal fluid is often an indication of Creutzfeldt-Jakob disease or mad cow disease.

- Tonsil biopsy – tonsil tissue tends to be affected in case of mad cow disease. Examination of a sample of tonsil tissue may help diagnose the disease, but this method seems to be less conclusive for other forms of the disease.



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