A Test for Creutzfeldt-Jakob Disease Using Nasal Brushings (Published in The New England Journal of Medicine, 2014, n. 371, pp. 519-529). This is the title of the study that won the fourth edition of the Aspen Institute Italia Award. Eleven scientists belonging to four different scientific organizations worked together toward this result. Their research represents a significant step forward in diagnosing prion diseases; above all, however, it opens a new and broad perspective of diagnosis in the field of those neurodegenerative diseases that are more common and that have a significant social and economic impact.
- Christina D. Orrú, Ph.D. ¹
- Matilde Bongianni, Ph.D ²
- Giovanni Tonoli, M.D. 4
- Sergio Ferrari, M.D. ²
- Andrew G. Hughson, M.S. ¹
- Michele Fiorini, Ph.D. ²
- Bradley R. Groveman, Ph.D. ¹
- Maurizio Pocchiari, M.D. ³
- Salvatore Monaco, M.D. ²
- Byron Caughey, Ph.D. ¹
- Gianluigi Zanusso, M.D., Ph.D ²
¹ Laboratory of Persistent Viral Diseases, Rocky Mountain Laboratories, National Institute of Allergy
and Infectious Diseases (NIAID), National Institutes of Health – Hamilton, (Montana) – USA
² Department of Neurologic and Movement Sciences, University of Verona – ITALY
³ Department of Cell Biology and Neurosciences, Istituto Superiore di Sanità, Rome – ITALY
⁴ Clinica Otorinolaringoiatrica, Policlinico G.B. Rossi, Verona – ITALY
The originality of the research lies in having devised a simple and non-invasive procedure for the reliable diagnosis of prion diseases. The neurons of the olfactory mucosa are taken with nasal brushing and then analyzed with a new technique that amplifies prions in vitro, called “real-time quaking-induced conversion (RT-QuIC)”. This test is highly innovative because it combines the high sensitivity of the RT-QuIC technique (used to identify the pathogenetic marker of prion diseases) with the non-invasive collection of olfactory epithelium.
International criteria require that the definitive diagnosis of prion disease be obtained exclusively by a biochemical or histological exam. Indeed, before the research being recognized here was undertaken and proved successful, a certain diagnosis of prion disease could only be obtained after death, with a brain autopsy. A biopsy of a living brain is never recommended because of the high risk of contamination and the high costs of sterilizing healthcare facilities. Having a test capable of making a definite diagnosis of prion disease while a patient is still alive, therefore, is an extremely important step forward in our understanding of these diseases. It informs family members, avoids further tests, reduces costs and allows timely treatment.
In the near future, the diagnostic use of nasal brushing coupled with the RT-QuIC technique could be extended to other neurodegenerative diseases (such as Parkinson’s, Alzheimer’s and Lewy Body Dementia). RT-QuIC performed on samples of olfactory epithelium could identify the marker proteins of these diseases, thereby allowing diagnoses even in very early stages of the disease. In most neurodegenerative diseases – in particular Parkinson’s – the first neuropathological lesions are observed in the olfactory system; indeed, olfactory disorders represent a very early non-motor symptom of the disease.