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New Tests could Potentially Detect Creutzfeldt-Jakob Disease

Update Date: Aug 07, 2014 03:04 PM EDT

According to two new studies, researchers have created tests that might be able to detect signs of Creutzfeldt-Jakob disease (CJD). The first test looks for infectious proteins that are responsible for causing the disease in people's urine while the second test examines nasal brushings for signs of the rare disease.

CJD occurs when proteins known as prions start killing brain cells. The most widely known form of CJD is mad cow disease, also known as variant CJD, but the most common form is known as sporadic CJD. Even though an earlier diagnosis will not save people's lives, researchers believe that simple, non-invasive detection tests could potentially prevent the disease from transmitting. The researchers stated that transmission is extremely rare, but has occurred before via medical procedures and blood donations.

"We also need rapid, sensitive and specific tests to help us make the correct diagnosis for people presenting with dementia," said Dr. Colin Masters, a prion disease researcher at the University of Melbourne, in Australia reported by Philly. "It is sometimes very difficult to be sure of the correct diagnosis using just [signs and symptoms]."

Currently, the only way to definitively diagnose any kinds of CJD is to perform a biopsy or an autopsy of the brain tissue. In the first study, researchers were able enlarge the protein tied to variant CJD in urine. The test works by speeding up the process in which the prions replicate with the help of an ultrasound machine. By doing so, the urine ended up with larger quantities that could be detected. The test had an accuracy of 93 percent.

"It should make Creutzfeldt-Jakob disease diagnosis - which has been a real problem - easier, faster and more definitive," coauthor Dr. Byron Caughey of the National Institute of Allergy and Infectious Diseases told Reuters Health. "That in itself is a very important thing. It may provide a relatively non-invasive way to follow disease progression."

In a second study, the researchers created a test to detect sporadic CJD. In this type of CJD, the prions are not detectable through the urine because the disease stays in the brain. Instead, the test takes samples from inside of the nose. The test also amplifies the prions so that they can be detected. The accuracy rate for this test was 97 percent.

The researchers from both studies stated that more testing would be required. Both studies, "A Test for Creutzfeldt-Jakob Disease Using Nasal Brushings," and "Prions in the Urine of Patients with Variant Creutzfeldt-Jakob Disease," were published in the New England Journal of Medicine.

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