Creutzfeldt-Jakob disease surveillance in Australia: update to 31 December 2024

Authors

  • Dr Christiane Stehmann The Florey Institute, The University of Melbourne, Victoria, 3010, Australia
  • Dr Matteo Senesi Department of Medicine, The University of Melbourne, Victoria, 3010, Australia
  • Ms Shannon Sarros The Florey Institute, The University of Melbourne, Victoria, 3010, Australia
  • Ms Amelia McGlade The Florey Institute, The University of Melbourne, Victoria, 3010, Australia
  • Dr Victoria Lewis Department of Medicine, The University of Melbourne, Victoria, 3010, Australia
  • Ms Priscilla Agustina The Florey Institute, The University of Melbourne, Victoria, 3010, Australia
  • Dr Daniel Barber The Florey Institute, The University of Melbourne, Victoria, 3010, Australia
  • Ms Genevieve Klug Department of Medicine, The University of Melbourne, Victoria, 3010, Australia
  • Dr Sarah Holper The Florey Institute, The University of Melbourne, Victoria, 3010, Australia
  • Professor Catriona A McLean The Florey Institute, The University of Melbourne, Victoria, 3010, Australia; The Alfred Hospital, Department of Anatomical Pathology, 55 Commercial Rd, Melbourne Vic 3004 Australia
  • Professor Colin L Masters Department of Medicine, The University of Melbourne, Victoria, 3010, Australia
  • Professor Steven J Collins The Florey Institute, The University of Melbourne, Victoria, 3010, Australia; Department of Medicine, The University of Melbourne, Victoria, 3010, Australia

DOI:

https://doi.org/10.33321/cdi.2025.49.050

Keywords:

Creutzfeldt-Jakob disease, prion disease, transmissible spongiform encephalopathy, disease surveillance

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 improvements have been developed 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 2024.

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 2024, a total of 760 domestic CSF specimens were referred for diagnostic testing and 88 persons with suspected human prion disease were formally added to the national register. As of 31 December 2024, approximately half (42) of the 83 initial case notifications for 2024 remain classified as ‘incomplete’; 21 cases were classified as ‘definite’ and 17 as ‘probable’ prion disease; three cases were excluded through neuropathological examination. For 2024, seventy-two percent of all suspected human-prion-disease-related deaths in Australia underwent neuropathological examination. No cases of variant or iatrogenic CJD were identified in Australia during 2024.

Downloads

Download data is not yet available.

References

Klug GM, Boyd A, Sarros S, Stehmann C, Simpson M, McLean CA et al. Creutzfeldt-Jakob disease surveillance in Australia, update to December 2013. Commun Dis Intell Q Rep. 2014;38(4):E348–55.

Allars M. Report of the inquiry into the use of pituitary derived hormones in Australia and Creutzfeldt-Jakob disease. Canberra: AGPS, 1994.

Zerr I, Kallenberg K, Summers DM, Romero C, Taratuto A, Heinemann U et al. Updated clinical diagnostic criteria for sporadic Creutzfeldt-Jakob disease. Brain. 2009;132(10):2659–68. doi: https://doi.org/10.1093/brain/awp191.

Uttley L, Carroll C, Wong R, Hilton DA, Stevenson M. Creutzfeldt-Jakob disease: a systematic review of global incidence, prevalence, infectivity, and incubation. Lancet Infect Dis. 2020;20(1):e2–10. doi: https://doi.org/10.1016/S1473-3099(19)30615-2.

Klug GM, Wand H, Simpson M, Boyd A, Law M, Masters CL et al. Intensity of human prion disease surveillance predicts observed disease incidence. J Neurol Neurosurg Psychiatry. 2013;84(2):1372–7. doi: https://doi.org/10.1136/jnnp-2012-304820.

Senesi M, Lewis V, Varghese S, Stehmann C, McGlade A, Doecke JD et al. Diagnostic performance of CSF biomarkers in a well-characterized Australian cohort of sporadic Creutzfeldt-Jakob disease. Front Neurol. 2023;14:1072952. doi: https://doi.org/10.3389/fneur.2023.1072952.

Schmitz M, Villar-Piqué A, Hermann P, Escaramís G, Calero M, Chen C et al. Diagnostic accuracy of cerebrospinal fluid biomarkers in genetic prion diseases. Brain. 2022;145(2):700–12. doi: https://doi.org/10.1093/brain/awab350.

Chen ZY, Chu M, Liu L, Zhang J, Kong Y, Xie K et al. Genetic prion diseases presenting as frontotemporal dementia: clinical features and diagnostic challenge. Alzheimers Res Ther. 2022;14(1):90. doi: https://doi.org/10.1186/s13195-022-01033-4.

Nan H, Liu L, Chen Z, Chu M, Li J, Jing D et al. Octapeptide repeat alteration mutations of the prion protein gene in clinically diagnosed Alzheimer's disease and frontotemporal dementia. Clin Genet. 2023;104(3):350–5. doi: https://doi.org/10.1111/cge.14354

Glatzel M, Rogivue C, Ghani A, Streffer JR, Amsler L, Aguzzi A. Incidence of Creutzfeldt-Jakob disease in Switzerland. Lancet. 2002;360(9327):139–41. doi: https://doi.org/10.1016/S0140-6736(02)09384-4.

Collins S, Boyd A, Fletcher A, Kaldor J, Hill A, Farish S et al. Creutzfeldt-Jakob disease cluster in an Australian rural city. Ann Neurol. 2002;52(1):115–8. doi: https://doi.org/10.1002/ana.10224.

Klug GM, Wand H, Boyd A, Law M, Whyte S, Kaldor J et al. Enhanced geographically restricted surveillance simulates sporadic Creutzfeldt-Jakob disease cluster. Brain. 2009:132(2);493–501. doi: https://doi.org/10.1093/brain/awn303.

Stevenson M, Uttley L, Oakley JE, Carroll C, Chick SE, Wong R. Interventions to reduce the risk of surgically transmitted Creutzfeldt-Jakob disease: a cost-effective modelling review. Health Technol Assess. 2020;24(11):1–150. doi: https://doi.org/10.3310/hta24110.

Watson N, Brandel JP, Green A, Hermann P, Ladogana A, Lindsay T et al. The importance of ongoing international surveillance for Creutzfeldt-Jakob disease. Nat Rev Neurol. 2021;17(6):362–79. doi: https://doi.org/10.1038/s41582-021-00488-7.

Barber D, Trost N, Stehmann C, Lewis V, Doecke J, Jhamb A et al. Assessing the newly proposed MRI criteria for diagnosing sporadic Creutzfeldt-Jakob disease. Neuroradiology. 2024;66(11):1907–15. doi: https://doi.org/10.1007/s00234-024-03440-w.

The Royal College of Pathologists of Australasia Autopsy Working Party. The decline of the hospital autopsy: a safety and quality issue for healthcare in Australia. Med J Aust. 2004;180(6):281–5. doi: https://doi.org/10.5694/j.1326-5377.2004.tb05926.x.

Jackett L, McLean C. Hospital autopsy remains a vital instrument for quality assurance of clinical diagnosis. Pathology. 2014;46(Suppl 1):S56. doi: https://doi.org/10.1097/01.PAT.0000443521.56495.1a.

Wadsworth JD, Joiner S, Hill AF, Campbell TA, Desbruslais M, Luthert PJ et al. Tissue distribution of protease resistant prion protein in variant Creutzfeldt-Jakob disease using a highly sensitive immunoblotting assay. Lancet. 2001;358(9277):171–80. doi: https://doi.org/10.1016/s0140-6736(01)05403-4.

Lewis V, Ellett L, Lei E, Stehmann C, Birchall I, Senesi M et al. A fixed brain seeded amplification assay to complement neuropathological prion disease diagnosis. J Neuropathol Exp Neurol. 2025:nlaf105. doi: https://doi.org/10.1093/jnen/nlaf105.

Panegyres PK, Stehmann C, Klug GM, Masters CL, Collins S. Prion disease in Indigenous Australians. Intern Med J. 2021;51(7):1101–5. doi: https://doi.org/10.1111/imj.14835.

Mok T, Jaunmuktane Z, Joiner S, Campbell T, Morgan C, Wakerley B et al. Variant Creutzfeldt–Jakob disease in a patient with heterozygosity at PRNP codon 129. N Engl J Med. 2017;376(3):292–4. doi: https://doi.org/10.1056/NEJMc1610003.

Brandel JP, Vlaicu MB, Culeux A, Belondrade M, Bougard D, Grznarova K et al. Variant Creutzfeldt–Jakob disease diagnosed 7.5 years after occupational exposure. N Engl J Med. 2020;383(1):83–5. doi: https://doi.org/10.1056/NEJMc2000687.

Downloads

Published

22/10/25

How to Cite

Stehmann, Christiane, Matteo Senesi, Shannon Sarros, Amelia McGlade, Victoria Lewis, Priscilla Agustina, Daniel Barber, et al. 2025. “Creutzfeldt-Jakob Disease Surveillance in Australia: Update to 31 December 2024”. Communicable Diseases Intelligence 49 (October). https://doi.org/10.33321/cdi.2025.49.050.

Issue

Section

Annual report

Categories

Most read articles by the same author(s)

1 2 3 > >>