Symptoms and Types of CJD - Prion Diseases in Humans

 An MD and former internal medicine physician at Samaritan Pacific Communities Hospital in Newport, Oregon, Dr. Joshua “Josh” Estep was responsible for providing comprehensive care for his patients. He currently practices at Elbert Memorial Hospital in Elberton, Georgia. Josh Estep, MD, has made contributions that extend beyond patient care, such as his research focused on prion diseases.

Humans can develop a few types of prion diseases, including Creutzfeldt-Jakob disease (CJD). Like every other prion disease, CJD is a neurodegenerative condition that occurs when certain proteins with abnormal structures, called prions, accumulate in the brain.

The signs and symptoms of CJD include forgetfulness, hallucinations or delusions, personality changes, disorientation, and vision problems. Symptoms stem from the parts of the brain where the abnormal protein occurs. If the proteins accumulate in areas that control locomotion and balance, signs and symptoms like gait problems, muscle spasms, wasting, seizures, and paralysis may occur.

There are four major types of CJD - sporadic CJD, variant CJD, genetic CJD, and acquired CJD. The most common type is sporadic CJD - a CJD that happens for unknown reasons. About 85 to 90 percent of CJDs are sporadic. Variant CJD results from the consumption of contaminated beef. The second most common CJD, genetic CJD, is an inherited type of CJD that is linked to certain genetic mutations. Acquired CJD stems from exposure to a contaminated tissue specimen or organ during tissue grafting or organ transplant surgery or from exposure to contaminated surgical equipment.

RT-QuIC for Sporadic CJD - Prion Disease Testing

 A member of the American College of Physicians and the American Board of Internal Medicine, Joshua “Josh” Estep, MD, serves as an internal medicine physician at Elbert Memorial Hospital in Elberton, Georgia. He holds an MD from the University of Medicine and Health Sciences and previously practiced at Samaritan Pacific Communities Hospital in Newport, Oregon. Dr. Josh Estep has also made significant contributions to the medical community, specifically in the area of prion disease research.

Prion diseases, such as Creutzfeldt-Jakob disease (CJD), are fatal neurodegenerative diseases that arise when misfolded proteins proliferate in the brain and disrupt brain cell function. One type of CJD, known as sporadic CJD, occurs for unknown reasons. The real-time quaking-induced conversion (RT-QuIC) test can aid in the diagnosis of sporadic CJD. Unlike many other tests that analyze biopsies for CJD markers in postmortem settings, RT-QuIC can diagnose CJD before death.

RT-QuIC leverages the pathological mechanism of CJD, where faulty proteins occur in brain cells and cerebrospinal fluid (the fluid in the spinal cord) and duplicate themselves by transforming normal prion proteins in the brain into misfolded prions. In RT-QuIC, a lab specialist adds normal prion proteins to a sample of cerebrospinal fluid collected from a patient. Using fluorescent dyes, RT-QuIC helps monitor the formation of aggregates of misfolded prion protein in cerebrospinal fluid in real-time. Sporadic CJD is indicated if an increasing number of misfolded prion proteins occurs.

A person who suffers from rapidly progressing dementia likely has sporadic CJD. Doctors can analyze electroencephalograms and MRI scans of the brain. If abnormal brain activity or structure is generated by the tests, doctors may perform RT-QuIC as a form of clinically supportive investigation.

A Look at Prion Diseases

 An accomplished internal medicine physician, Joshua “Josh” Estep, MD, served as a hospitalist at Samaritan Pacific Communities Hospital in Newport, Oregon, where he provided high-quality care to patients in a rural setting. Leveraging his experience, he now serves as an internal medicine hospitalist at Elbert Memorial Hospital in Elberton, Georgia. Dr. Josh Estep also has extensive experience in rural medicine and prion disease research.

A group of rare diseases, prion diseases occur when certain proteins called prions accumulate in the brain. Prions alter the structures of other proteins in brain cells and often lead to adverse symptoms such as confusion, muscle stiffness, hallucinations, difficulty walking, and difficulty speaking, depending on what parts of the brain are compromised by the disease. Examples of prion diseases are Creutzfeldt-Jakob disease (CJD), kuru, fatal insomnia, Gerstmann-Straussler-Scheinker disease (GSS), and variably protease-sensitive prionopathy (VPSPr).

Roughly 300 prion disease cases are reported annually in the US, according to hopkinsmedicine.org. A prion disease can be inherited from parents or acquired through environmental factors like exposure to prion-contaminated medical equipment. Some types of prion diseases affect animals, such as cattle. If a human eats prion-contaminated meat, they can also acquire the disease. Prion diseases are generally fatal, and often result in death within a year. While prion diseases are incurable, medical management can delay disease progression and alleviate symptoms.