What is Prion Disease and How Does it Affect the Brain?

 

Amongst all rare and degenerative diseases of the nervous system, Prion Disease stands out for its unique combination of rarity and extremely rapid progression. Affecting between 1 and 2 people for every 1 million in the world annually, it is a highly aggressive and debilitating neurological illness that significantly impacts the brain. Encountering a Prion Disease diagnosis can leave patients and their families overwhelmed and seeking information and support during an incredibly sensitive period of time.

Unlike common bacterial or viral infections, Prion Disease results from the malfunction of normal brain proteins. Prion diseases occur when normally formed proteins, called Prions, incorrectly fold. Once a Prion protein begins to incorrectly fold, it begins a cascade in which normally formed protein is “infectiously” induced to also fold and misfold. Ultimately, this process of cellular deterioration destroys brain cells and impairs crucial functions of the body and mind, such as memory, physical coordination, daily routines, and behavior.

Due to the rarity of Prion Disease, many people go their entire lives without ever hearing of the illness. Learning more about Prion Disease is one of the most important first steps in gaining a deeper understanding when you or a close relative has been diagnosed with the condition. Here in this comprehensive resource, you’ll discover a step-by-step introduction to all aspects of the illness.

What is Prion Disease?

A cluster of uncommon and degenerative neurological conditions is collectively known as Prion Disease and is caused by the misfolding of the brain’s protein. In a healthy brain, Prion proteins are harmless. When they begin to form, they cause nearby healthy Prion proteins to become distorted as well. Eventually, these damaged proteins clump together and kill brain tissue. What differentiates prion diseases from viruses or bacteria is that they have no RNA or DNA.

List of Prion Diseases

The family of prion diseases is quite broad, with multiple distinct forms, although they all lead to the deterioration of brain matter:

Sporadic Creutzfeldt-Jakob Disease (sCJD): 

This is by far the most common form of prion disease among people, occurring at a rate of almost 85% of diagnosed cases. It is sporadic because the cause of the disease is unknown.

Familial Creutzfeldt-Jakob Disease: 

A hereditary condition that is triggered by a gene mutation that increases risk. It can be passed from parents to children, and a diagnosis usually occurs in adulthood.

Variant Creutzfeldt-Jakob Disease (vCJD): 

The only type of human prion disease linked to a specific dietary source is eating beef that comes from animals afflicted with bovine spongiform encephalopathy, otherwise known as “mad cow disease.” Today, such infections are highly uncommon thanks to widespread food safety protocols.

Gerstmann-Strussler-Scheinker Syndrome: 

A relatively slow-progressing genetic disorder, wherein symptoms initially include poor balance followed by loss of mental function.

Fatal Familial Insomnia: 

An extremely rare inherited disorder whose most severe symptom involves a complete inability to sleep, leading to the progressive loss of cognitive function and neurological deterioration.

What Causes Prion Disease?

The underlying cause of Prion Disease is dependent on the specific form of the disease. Some diseases, like the more common sCJD, develop spontaneously without an obvious trigger or genetic predisposition. In some cases, particularly when the disorder is hereditary, gene mutations lead to the disease developing over time. 

Very rarely, prion disease can occur in patients due to contact with contaminated human tissue or improper sterilization of medical instruments. The specific mechanisms driving the malformation of normal Prion protein remain under investigation among scientists.

Symptoms of Prion Disease

Symptoms typically present suddenly and progressively get worse over weeks to months. It is important to note that some symptoms can mimic other neurological conditions.

Cognitive Symptoms

The symptoms that will likely appear early will be those relating to mental and memory functions:

• Memory loss
• Confusion
• Problems with concentration
• Changes in behavior
• Personality changes

Physical Symptoms

Other symptoms will then develop in addition to the ones listed above, and these may progress from mild to severe. This list isn’t exhaustive, but it gives an indication of what patients with prion disease might face.

• Difficulty walking
• Problems with balance and coordination
• Stiffness in the muscles
• Vision difficulties
• Trouble swallowing
• Impaired speech

As the disease progresses further, individuals usually experience severe dementia and complete loss of independence.

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How is Prion Disease Diagnosed?

Diagnosis for all types of prion diseases isn’t easily established because it can’t be confirmed with a single test. Instead, the following combination of evaluations typically leads to a diagnosis:

Neurological Exam

A medical professional will examine for issues with motor skills, vision, cognition, balance, reflexes, and hearing to assess brain and nerve function and determine if additional testing is needed.

Brain Imaging

An MRI scan is often used to assess characteristic abnormalities that may indicate prion disease. Specific imaging patterns can suggest certain forms of the disease.

Laboratory Tests

Laboratory analysis of cerebral spinal fluid (CSF) or blood may show biomarkers of neuronal damage. A patient may also be asked to undergo genetic testing to check for inherited prion diseases.

Is there a Treatment for Prion Disease?

As of today, there are no available cures for any form of prion disease. Treatments available at this time aim at helping manage symptoms and improve the patient's comfort. Depending on the individual and the progression of his or her disease, doctors may prescribe medications for symptom-related discomfort such as spasms, anxiety, and pain, and provide ongoing support. Researchers are continually seeking methods to slow the buildup of abnormal prion protein.

Are Prion Diseases Always Fatal?

In almost all confirmed cases, the answer unfortunately appears to be yes. The course of prion diseases is highly variable, but most will eventually lead to the most profound neurological dysfunction. Even without a cure, therapies are still vital for enhancing quality of life and assisting patients and their families to cope with a diagnosis that can seem insurmountable. Clinical research is always ongoing, and offers hope for future breakthroughs in diagnosis and treatment.

Can Prion Disease Be Prevented?

Sporadic and familial prion diseases cannot be prevented with current technology. However, infection-control practices, blood testing, and careful regulation of food-safety measures have greatly reduced the transmission rates of infectious prion diseases, such as Variant CJD. In hospitals, rigorous sterilization techniques are used whenever prion contamination is possible.

When Should Family Members Consult a Doctor about Prion Disease?

If you suspect a loved one might be suffering from symptoms of prion disease—for example, rapidly progressive memory loss, confusion, behavior and personality changes, balance difficulties, muscle twitches, or trouble speaking/swallowing—seek medical help immediately. Early assessment and consultation with a neurologist may offer patients the opportunity to receive treatment and support and enable families to plan effectively for caregiving.

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Conclusion

Prion Disease is a challenging neurological disease due to its rarity, high fatality rate, rapid onset, and current lack of available treatment options. Understanding the causes of prion disease, recognizing symptoms early, and quickly pursuing a diagnosis with neurologists can help patients receive the supportive care and attention they need earlier in the illness. Research on Prion Disease treatments and diagnostics is an ongoing area of development, offering hope for the future of affected patients. Here at drgptmd.com, we are committed to providing the best available evidence-based medical information for patients and families seeking to better understand complex health issues and make well-informed health care decisions.

FAQs

Can Younger Adults Develop Prion Disease?

Yes, although less common, younger adults can be affected by Prion Disease, especially variant CJD or familial Prion Diseases. An individual’s age doesn’t protect against developing the condition; as such, even in younger patients, a thorough assessment by a neurologist should still be considered for anyone presenting with these rapidly advancing symptoms.

Can Prion Disease Be Misdiagnosed?

It’s easy for the symptoms of a Prion Disease to be mistaken for other conditions like Alzheimer’s disease, Parkinson’s, a stroke, or various autoimmune brain disorders. It’s important to understand that, because this condition is so incredibly rare, health professionals use a wide range of methods, including imaging studies and laboratory tests, to arrive at a correct diagnosis in accordance with stringent clinical guidelines.

Why is Research on Prion Disease Important? 

Scientists are conducting research to better understand how abnormal prion proteins injure brain cells and spread to the nervous system. Research is looking for tests that could detect the disease earlier, developing improved lab testing methods, and discovering new treatments that might slow or halt its progression. These findings also pave the way for improved therapies for diseases characterized by abnormal protein folding.

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