Prion disease – Causes, Symptoms, Treatment and more

What are prion diseases?

Prion diseases are rare diseases that affect mammals. These diseases are untreatable and cause neurodegenerative disorders. The prion diseases are fatal, and the cause of the disease is unknown.

Prions are proteins that usually do not require a nucleotide to reproduce. They are self-sufficient, and when they run into normal prion protein, the normal protein gets transformed into an abnormally folded protein, and the infection occurs.

The result of an abnormally folded protein results in a cascade of the mutated protein. Prion affects the proteins that are involved in brain functions. When there is a mutation, the nerve cells die, which can result in dementia.

The prion diseases destroy the brain cells and lead to memory loss. It can also cause a person to have limited movement.

The incubation of the period is long. When the symptoms finally start to appear, the progression of the disease will be so quick that the affected person dies in a few months.

The commonly identified prion diseases in humans are

• Kuru
• Gerstmann-Straussler-Scheinker syndrome (GSS)
• Creutzfeldt-Jakob disease (CJD),
• Variant Creutzfeldt-Jakob disease (vCJD)
• Fatal familial insomnia.

However, there are many unidentified prion diseases that are currently being studied by scientists. The blog will give information about the causes, symptoms and treatment of prion diseases.

What causes Prion diseases?

Prion diseases can be transferred unintentionally from one person to another during invasive procedures.

It can also spread through animals. When we consume meat contaminated with prions, we ingest the proteins along with meat. In such cases, the disease is called mad cow disease.

The cause of prion diseases is still under study, and the exact cause of the disease is unknown. Prion infections lead to small holes in the brain and become sponge-like. This damage can lead to physical impairment and, eventually, death.

Symptoms of Prion diseases

The symptoms of prion disease may differ slightly depending on the disease. However, all prion diseases affect the nervous system. The disease is known as a spongiform encephalopathy.

The common symptoms of prion diseases include

• Hallucinations
• Confusion
• Muscle stiffness
• Dementia
• Difficulty in walking
• Difficulty in speaking
• Fatigue
• Trouble sleeping
• Loss of coordination
• Changes in walking pattern
• Visual dysfunction
• Decreased alertness
• Apraxia

Risk factors

The risk factor for prion diseases is listed below.

• Consuming meat contaminated with prions.
• Unintentional transformation of prions during invasive methods.
• Family history of prion diseases.

Diagnosis of Prion diseases

Doctors will suggest certain tests to rule out other diseases with similar symptoms. Some of the common tests suggested for prion diseases are listed below. These imaging tests are required to view the brain and the body.

• MRI scan
• PET
• CT scan.

Another test, named spinal tap or lumbar puncture, is used to analyse brain health. A spinal tap is used to diagnose meningitis, prion diseases and other brain tumours.

A spinal tap test will help analyse the fluid in the spinal cord. The test will assess whether cancer has spread to other parts of the brain. The procedure involves inserting a special needle into the lower back of the spinal canal.

The fluid around the area will be collected using the needle and will be sent to the laboratory for further analysis. The fluid will be analysed for the presence of infection or cancer.

Blood tests and urine tests are also used to diagnose prion diseases. A sample of blood is collected to determine whether there is any mutation that produces abnormal proteins. A urine test will help determine any abnormal isoform or prion proteins.

The electroencephalogram is a test used to measure the brain’s electrical activity. The test will help to diagnose, monitor, and plan treatments for brain tumours, seizures, brain infections, strokes, and other brain injuries.

Other diagnostic tests like neurological and visual examinations will help evaluate the damage to the nerves and other brain cells.

Treatment for Prion diseases

Currently, there is no cure for prion diseases. However, there are treatment options available to control the symptoms and reduce the discomfort. There are medications available to slow the progress of prion diseases.

Can Prion diseases be prevented?

Prion diseases can be prevented. The medical equipments should be sterilised properly before use.

Proper handling of animals can also prevent prion diseases. Avoid consuming the cow’s brain and spinal cord. People with a family history of prion diseases should avoid donating blood.

Conclusion

Prion diseases are rare and caused by abnormally folded proteins. These abnormal proteins form clumps in the brain and damage the nerve cells, which leads to a decline in brain functions.

There are certain types of prion diseases that can be transferred genetically. Other types are acquired through contaminated food, medical equipments and invasive procedures. The cause of other prion diseases is unknown.

Currently, there is no cure for prion diseases. However, there are treatment options available to reduce the discomfort and control the symptoms of prion diseases. There are many research studies on the cause and treatment of the diseases.

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