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A Test for Creutzfeldt–Jakob Disease Using Nasal Brushings

2014; Massachusetts Medical Society; Volume: 371; Issue: 6 Linguagem: Inglês

10.1056/nejmoa1315200

1533-4406

Christina D. Orrú, Matilde Bongianni, Giovanni Tonoli, Sérgio Ferrari, Andrew G. Hughson, Bradley R. Groveman, Michele Fiorini, Maurizio Pocchiari, Salvatore Monaco, Byron Caughey, Gianluigi Zanusso,

Prion Diseases and Protein Misfolding

Definite diagnosis of sporadic Creutzfeldt–Jakob disease in living patients remains a challenge. A test that detects the specific marker for Creutzfeldt–Jakob disease, the prion protein (PrPCJD), by means of real-time quaking-induced conversion (RT-QuIC) testing of cerebrospinal fluid has a sensitivity of 80 to 90% for the diagnosis of sporadic Creutzfeldt–Jakob disease. We have assessed the accuracy of RT-QuIC analysis of nasal brushings from olfactory epithelium in diagnosing sporadic Creutzfeldt–Jakob disease in living patients.