Scientists develop nasal test for human prion disease

The test developed by NIH and Italian scientists involves the insertion of a rigid fiber-optic rhinoscope into the patient's nasal cavity. A sterile brush is then inserted alongside the scope to collect olfactory neurons by gently rolling along the mucosal surface. Credit: NIAID

A nasal brush test can rapidly and accurately diagnose Creutzfeldt-Jakob disease (CJD), an incurable and ultimately fatal neurodegenerative disorder, according to a study by National Institutes of Health (NIH) scientists and their Italian colleagues.

Up to now, a definitive CJD diagnosis requires testing brain tissue obtained after death or by biopsy in living patients. The study describing the less invasive nasal test appears in the Aug. 7 issue of the New England Journal of Medicine.

CJD is a . These diseases originate when, for reasons not fully understood, normally harmless prion protein molecules become abnormal and gather in clusters. Prion diseases affect animals and people. Human prion diseases include variant, familial and sporadic CJD. The most common form, sporadic CJD, affects an estimated 1 in one million people annually worldwide. Other prion diseases include scrapie in sheep; chronic wasting disease in deer, elk and moose; and bovine spongiform encephalopathy (BSE), or mad cow disease, in cattle. Scientists have associated the accumulation of these clusters with tissue damage that leaves sponge-like holes in the brain.

"This exciting advance, the culmination of decades of studies on prion diseases, markedly improves on available diagnostic tests for CJD that are less reliable, more difficult for patients to tolerate, and require more time to obtain results," said Anthony S. Fauci, M.D., director of the National Institute of Allergy and Infectious Diseases (NIAID), a component of NIH. "With additional validation, this test has potential for use in clinical and agricultural settings."

This video is not supported by your browser at this time.
NIAID scientists describe a promising nasal brush test that can rapidly and accurately diagnose Creutzfeldt-Jakob disease (CJD).

An easy-to-use diagnostic test would let doctors clearly differentiate prion diseases from other brain diseases, according to Byron Caughey, Ph.D., the lead NIAID scientist involved in the study. Although specific CJD treatments are not available, prospects for their development and effectiveness could be enhanced by early and accurate diagnoses. Further, a test that identifies people with various forms of prion diseases could help to prevent the spread of prion diseases among and between species. For instance, it is known that can be transmitted via medical procedures such as blood transfusions, transplants and the contamination of surgical instruments. People also have contracted variant CJD after exposure to BSE-infected cattle.

The NIAID study involved 31 nasal samples from patients with CJD and 43 nasal samples from patients who had other neurologic diseases or no neurologic disease at all. These samples were collected primarily by Gianluigi Zanusso, M.D., Ph.D., and colleagues at the University of Verona in Italy, who developed the technique of brushing the inside of the nose to collect olfactory neurons connected to the brain. Testing in Dr. Caughey's lab in Montana then correctly identified 30 of the 31 CJD patients (97 percent sensitivity) and correctly showed negative results for all 43 of the non-CJD patients (100 percent specificity). By comparison, tests using cerebral spinal fluid—currently used to detect sporadic CJD—were 77 percent sensitive and 100 percent specific, and the results took twice as long to obtain.

More information: C. Orru et al. A test for Creutzfeldt-Jakob disease using nasal brushings. New England Journal of Medicine, DOI: 10.1056/NEJMoa1315200 (2014).

add to favorites email to friend print save as pdf

Related Stories

Blood can transmit Creutzfeldt-Jakob disease

Dec 12, 2013

Creutzfeldt-Jakob disease (CJD) is a rare but fatal disease in humans. For the first time, the presence of infectivity in the blood of patients affected by sporadic and the new variant of CJD was established by scientists ...

New models advance the study of deadly human prion diseases

Aug 19, 2013

By directly manipulating a portion of the prion protein-coding gene, Whitehead Institute researchers have created mouse models of two neurodegenerative diseases that are fatal in humans. The highly accurate reproduction of ...

Sequence and structure key to prion disease transmission

Jun 14, 2010

Prion diseases are lethal neurodegenerative disorders that include Creutzfeldt-Jakob disease (CJD) in humans and bovine spongiform encephalopathy (BSE; commonly known as mad cow disease) in cows. A team of researchers, led ...

Recommended for you

New molecule sneaks medicines across the blood/brain barrier

59 minutes ago

Delivering life-saving drugs across the blood-brain barrier (BBB) might become a little easier thanks to a new report published in the November 2014 issue of The FASEB Journal. In the report, scientists describe an antibo ...

Clock gene dysregulation may explain overactive bladder

59 minutes ago

If you think sleep problems and bladder problems are a fact of life in old age, you may be right. A new report appearing in the November 2014 issue of The FASEB Journal, shows that our sleep-wake cycles are genetically connec ...

User comments

Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Click here to reset your password.
Sign in to get notified via email when new comments are made.