Nasal Swab Can Test for Creutzfeldt–Jakob Disease Interview with:
Zanusso Gianluigi M.D.Ph.D.

Department of Neurosciences, Biomedicine and Movement Sciences
University of Verona
Verona, Italy What is the background for this study? What are the main findings?

Response: To determine RT-QuIC assay sensitivity and specificity in cerebrospinal fluid and olfactory mucosa in a large group of patients with a clinical diagnosis of probable, possible or suspect Creutzfeldt–Jakob disease (CJD) and controls.

In these patients, RT-QuIC testing of CSF and olfactory mucosa provided a specificity and sensitivity of 100%.

A softer swab for olfactory mucosa sampling provided the same sensitivity as using a brush . What should readers take away from your report?

Response: Although CJD diagnosis is based on distinct clinical signs supported by MRI and EEG findings, we strongly suggest physicians follow the algorithm reported in this study when a Creutzfeldt–Jakob disease is suspected. In particular, perform the lumbar puncture and test CSF to exclude potential treatable conditions. When these are excluded, then perform RT-QuIC on CSF. In case CSF results negative then perform OM swabbing and test samples with RT-QuIC. What recommendations do you have for future research as a result of this study?

Response: We already detected prions by RT-QuIC in olfactory mucosa (OM) of patients with sporadic  Creutzfeldt–Jakob disease, during early clinical phase.

I am expecting that in patients with genetic forms of prion disorders, RT-QuIC assay on OM might result positive before the clinical onset. Is there anything else you would like to add?

Response: RT-QuIC assay drastically changed diagnostics in prion diseases. The first study on CSF was published in 2012 and in just three years later we are nearly to an in vivo diagnosis of CJD in nearly 100% of suspected cases. Thank you for your contribution to the community.


Bongianni M, Orrù C, Groveman BR, Sacchetto L, Fiorini M, Tonoli G, Triva G, Capaldi S, Testi S, Ferrari S, Cagnin A, Ladogana A, Poleggi A, Colaizzo E, Tiple D, Vaianella L, Castriciano S, Marchioni D, Hughson AG, Imperiale D, Cattaruzza T, Fabrizi GM, Pocchiari M, Monaco S, Caughey B, Zanusso G. Diagnosis of Human Prion Disease Using Real-Time Quaking-Induced Conversion Testing of Olfactory Mucosa and Cerebrospinal Fluid Samples. JAMA Neurol. Published online December 12, 2016. doi:10.1001/jamaneurol.2016.4614

Note: Content is Not intended as medical advice. Please consult your health care provider regarding your specific medical condition and questions.

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