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.