Creutzfeldt-Jakob disease surveillance in Australia: update to 31 December 2023.

Q3 Medicine
Christiane Stehmann, Matteo Senesi, Shannon Sarros, Amelia McGlade, Victoria Lewis, Laura Ellett, Priscilla Agustina, Daniel Barber, Genevieve Klug, Catriona A McLean, Colin L Masters, Stephen J Collins
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Abstract

Abstract: Nationwide surveillance of Creutzfeldt-Jakob disease (CJD) and other human prion diseases is performed by the Australian National Creutzfeldt-Jakob Disease Registry (ANCJDR). National surveillance encompasses the period since 1 January 1970, with prospective surveillance occurring from 1 October 1993. Over this prospective surveillance period, considerable developments have occurred in pre-mortem diagnostics; in the delineation of new disease subtypes; and in heightened awareness of prion diseases in healthcare settings. Surveillance practices of the ANCJDR have evolved and adapted accordingly. This report summarises the activities of the ANCJDR during 2023. Since the ANCJDR began offering diagnostic cerebrospinal fluid (CSF) 14-3-3 protein testing in Australia in September 1997, the annual number of referrals has steadily increased. In 2023, a total of 651 domestic CSF specimens were referred for diagnostic testing and 83 persons with suspected human prion disease were formally added to the national register. As of 31 December 2023, just under half of the 83 suspect case notifications (41) remain classified as 'incomplete'; 10 cases were classified as 'definite' and 28 as 'probable' prion disease; three cases were excluded through neuropathological examination and one was removed from the register as 'unlikely CJD' after clinical evaluation. For 2023, fifty-three percent of all suspected human-prion-disease-related deaths in Australia underwent neuropathological examination. No cases of variant or iatrogenic CJD were identified.

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