Safer and faster prion disease detection

2014

Challenge

Creutzfeldt-Jakob disease (CJD) is an incurable, transmissible, and ultimately fatal neurodegenerative disorder. Currently, definitive diagnosis requires a biopsy or post-mortem sampling of brain tissue.

Advance

IRP researcher Byron Caughey, Ph.D., and colleagues collaborated with a team from the University of Verona to develop a less invasive and quicker test to diagnose CJD. The new technique involves gentle brushing of the nasal cavity to collect olfactory neurons connected to the brain. From a total of 43 CJD patients, the new test correctly diagnosed 42 patients, and accurately showed negative results for all 43 non-CJD patients.

Impact

An easy-to-use diagnostic test will allow doctors to clearly differentiate CJD from other brain diseases and enhance the development of early treatments. With additional validation, this type of test has potential for use in both clinical and agricultural settings.

 

Publications

CD Orrú, Bongianni M, Tonoli G, Ferrari S, Hughson AG, Groveman BR, Fiorini M, Pocchiari M, Monaco S, Caughey B, Zanusso G. (2014). A test for Creutzfeldt–Jakob disease using nasal brushings. The New England Journal of Medicine. 371(6), 519-29.

Zanusso G, Bongianni M, Caughey B. (2014). A test for Creutzfeldt-Jakob disease using nasal brushings: Reply to letter. The New England Journal of Medicine. 371(19), 1842-3.