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Transmissible Spongiform
Encephalopathies

Transmissible spongiform encephalopathies (TSEs), also called prion diseases, are rare diseases of the brain and nervous system. Both people and animals can get them. They are caused by a particle called a prion. When a person comes into contact with a prion, it causes the proteins which make up the brain tissue to fold the wrong way. The abnormal proteins then cause holes to develop in the brain. This leads to an appearance like a sponge. It can take years from the time of exposure until a person shows symptoms, but once the symptoms start, they progress rapidly. Sadly, these diseases are always fatal.

Symptoms

The symptoms of prion disease vary depending on where in the course of the disease a person is. A person may be infected for years before they begin to show symptoms such as:

  • Sudden personality changes
  • Forgetfulness
  • Difficulty walking
  • Confusion
  • Difficulty speaking
  • Difficulty caring for themself
  • Psychiatric disorders, such as depression, panic attacks, and anxiety
  • Hallucinations (seeing or hearing things which do not exist)
  • Clumsiness

Causes

Prion disease has four different causes:

  • Acquired disease – when a person comes into contact with the disease-causing prion in their environment. Acquired TSEs are often from eating food contaminated with the prions, such as contaminated beef or game meat. An example is variant Creutzfeldt-Jakob disease (also known as mad cow disease), which affected cows in the UK in the 1990s. It can be passed to humans by eating infected meat.
  • Iatrogenic disease – when a person comes into contact with the prions because of a medical treatment. An example is receiving blood products or a donated organ from an infected person.
  • Familial disease – when a person gets the disease because of their genes. In families where this type of disease occurs, there is a 50% chance that an infected person’s child will also get the disease.
  • Sporadic disease – when a person gets a transmissible spongiform encephalopathy without any other known risk factors. This is the most common cause of prion disease. An example is Creutzfeldt-Jakob disease, named after two German physicians who first described it.

Risk Factors

There are few known risk factors for prion disease as it’s so rare and usually sporadic. Some known risk factors include:

  • Consuming meat which is contaminated with prions
  • A family history of rapidly fatal dementia

Diagnosis

The diagnosis of TSE requires a biopsy of the brain. The sample can be obtained either when the person is alive or during autopsy after the person has died. It must then be placed under a microscope and the characteristic sponge appearance seen, along with the abnormally folded proteins.

Other less invasive tests may be requested to diagnosis the condition, such as:

  • Scans of the brain
  • Electroencephalogram – electrodes placed on the skull to record brain waves
  • Getting a sample of the fluid surrounding the brain and spinal cord
  • Blood and urine tests to rule out other diseases

There is not a blood or urine test that diagnoses prion disease.

Complications

Unfortunately, all prion diseases cause death. The very quick worsening of symptoms can make it difficult for a family to care for a person with prion disease. The patient often ultimately ends up in a care home before they die.

Treatment

There is no cure for prion disease. Any treatment options are to help with symptom control and quality of life as the disease progresses.

Prevention

There is little that can be done to prevent prion disease, particularly as it is usually sporadic. Cooking meat does not kill prions. The best preventive measure is to only eat meat from farmers and ranchers that are following safety regulations for caring for their animals. There is no way to prevent sporadic cases or genetic cases. There is no screening test to determine whether a potential blood or organ donor is infected with a TSE but not yet showing symptoms.

 
 
 

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