Diagnosis of Human Prion Disease Using Real-Time Quaking-Induced Conversion Testing of Olfactory Mucosa and Cerebrospinal Fluid Samples

  title={Diagnosis of Human Prion Disease Using Real-Time Quaking-Induced Conversion Testing of Olfactory Mucosa and Cerebrospinal Fluid Samples},
  author={Matilde Bongianni and Christina D. Orr{\'u} and Bradley R. Groveman and Luca Sacchetto and Michele Fiorini and Giovanni Tonoli and Giorgio Triva and Stefano Capaldi and Silvia Testi and Sergio Ferrari and Annachiara Cagnin and Anna Ladogana and Anna Poleggi and Elisa Colaizzo and Dorina Tiple and Luana Vaianella and Santina Castriciano and Daniele Marchioni and Andrew G Hughson and Daniele Imperiale and Tatiana Cattaruzza and Gian Maria Fabrizi and Maurizio Pocchiari and Salvatore Monaco and Byron Caughey and Gianluigi Zanusso},
  journal={JAMA Neurology},
Importance Early and accurate in vivo diagnosis of Creutzfeldt-Jakob disease (CJD) is necessary for quickly distinguishing treatable from untreatable rapidly progressive dementias and for future therapeutic trials. This early diagnosis is becoming possible using the real-time quaking-induced conversion (RT-QuIC) seeding assay, which detects minute amounts of the disease-specific pathologic prion protein in cerebrospinal fluid (CSF) or olfactory mucosa (OM) samples. Objective To develop an… 

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A New Practical Diagnostic Test for Creutzfeldt-Jakob Disease
  • P. Brown, M. Farrell
  • Medicine, Psychology
    Infection Control & Hospital Epidemiology
  • 2015
The RT-QuIC spinal fluid test is added to the list of diagnostic test recommendations as perhaps the easiest, fastest, most accurate, and practical premortem diagnostic test for prion disease.