Orru CD et al. 2014, A test for Creutzfeldt-Jakob disease using nasal brushings (N Engl J Med 371:519-529, PMID 25099576, doi 10.1056/nejmoa1315200)

A 2014 New England Journal of Medicine study from NIAID Rocky Mountain Laboratories and Italian groups in Verona, Cagliari and Rome. It tested RT-QuIC on brushings of the nasal olfactory lining and found them far more informative than CSF in the same cohort, making nasal sampling a candidate minimally invasive test for sporadic CJD. The authors called it preliminary.

Key facts

  • Bibliographic record verified on PubMed and Europe PMC: eleven authors led by Christina D. Orru and ending with Gianluigi Zanusso, N Engl J Med 2014;371(6):519-529, DOI 10.1056/NEJMoa1315200, PMID 25099576, PMCID PMC4186748.
  • Design: preliminary diagnostic accuracy study of 31 patients with rapidly progressive dementia referred for suspected CJD (including 2 inherited cases) and 43 controls, 12 with other neurodegenerative disorders and 31 without neurological disease.
  • Nasal brushing RT-QuIC was positive in 30 of 31 CJD patients (97 percent sensitivity) and negative in all 43 controls (100 percent specificity).
  • CSF RT-QuIC in the same cohort was positive in 23 of 30 CJD patients (77 percent sensitivity) with all 46 non-CJD samples negative.
  • Brushings gave stronger and faster responses than CSF, and the seed content was estimated at about 10^5 to 10^7 per brushing, orders of magnitude above CSF.
  • The authors flagged biosafety questions about nasal discharge and instruments, and stated that other studies report higher CSF sensitivity.
  • Funders named: NIAID Intramural Research Program, Fondazione Cariverona, the Italian Ministry of Health and the CJD Foundation, plus private gifts.
  • Scout citation check: title, authors, journal, pages and DOI in the queue entry are correct. The queue's pointer to NEJM 371:1852 describes a separate editorial summary, not this article.

Timeline

  1. 2011Earlier context: CSF RT-QuIC for CJD reported in Nature Medicine (Atarashi et al.), the CSF-based assay the nasal brushings approach followed.
  2. 2014Published in N Engl J Med 371(6):519-529 (print date 7 August 2014).

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Last checked 1 November 2026

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