Creutzfeldt-Jakob Disease in South West Sydney 2014-2020: An Unusually High Incidence of a Rare Disease

Namraj Goire; Leon Edwards; Peter Thomas; Sonu M M Bhaskar; Dennis Cordato; Michael E Buckland; Roy G Beran

doi:10.1159/000520736

Creutzfeldt-Jakob Disease in South West Sydney 2014-2020: An Unusually High Incidence of a Rare Disease

Neuroepidemiology. 2022;56(1):59-65. doi: 10.1159/000520736. Epub 2021 Nov 11.

Authors

Namraj Goire^{1

2}, Leon Edwards^{1

3}, Peter Thomas^{1

3}, Sonu M M Bhaskar³, Dennis Cordato^{1

3

4}, Michael E Buckland^{5

6}, Roy G Beran^{1

3

4

7

8}

Affiliations

¹ Department of Neurology, Liverpool Hospital, Liverpool, New South Wales, Australia.
² Diagnostics and Therapeutics Unit, Illawarra Health and Medical Research Institute, University of Wollongong, Wollongong, New South Wales, Australia.
³ Ingham Institute of Applied Medical Research, Liverpool, New South Wales, Australia.
⁴ South West Sydney Clinical School, University of New South Wales (UNSW), Sydney, New South Wales, Australia.
⁵ Department of Neuropathology, Royal Prince Alfred Hospital, Sydney, New South Wales, Australia.
⁶ Brain and Mind Center, University of Sydney, Camperdown, New South Wales, Australia.
⁷ School of Medicine, Griffith University, Southport, Queensland, Australia.
⁸ Sechenov Moscow First State University, Moscow, Russian Federation.

PMID: 34763340
DOI: 10.1159/000520736

Abstract

Introduction: Creutzfeldt-Jakob disease (CJD), a spongiform encephalopathy, caused by a transmissible misfolded cellular prion protein, is a rapidly progressive, debilitating neurodegenerative disorder with no effective treatment. The estimated global incidence is at 1/million inhabitants. This retrospective study examined the incidence of CJD in South Western Sydney Local Health District (SWSLHD) from 2014 to 2020.

Background: SWSLHD had an estimated population of 1,038,534 in 2020, with CJD data being limited.

Methods: The New South Wales (NSW) Health Information Exchange (HIE) database, for all admissions with CJD diagnoses in SWSLHD, between 2014 and 2020, was reviewed according to the WHO diagnostic criteria, consistent with the Australian national CJD registry. Only probable CJD cases were included. Incidence was calculated based on the projected SWSLHD population.

Results: Thirty-five patients, diagnosed with CJD, were identified. Each was evaluated by 2 independent investigators, including clinical presentation, MRI, EEGs, 14-3-3, and RT-QuIC results, before assigning CJD-probable status. Four failed the CJD criteria and were excluded. Of the 31 CJD-probable cases, most (59%) were male and older (37%, range 61-70 years). The incidence rate peaked at 9/million in 2017 and was above 2/million, throughout the 7 years, with an average of 4.859/million/year.

Conclusions: The incidence of CJD, in SWSLHD, exceeds the national average of 1/million. Cost-effective, adequate diagnostic and screening tools, implementable over a large population, will become increasingly essential.

Keywords: Australia; Creutzfeldt-Jakob disease; Epidemiology; Prion disease; South West Sydney.

MeSH terms

Australia / epidemiology
Creutzfeldt-Jakob Syndrome* / diagnosis
Creutzfeldt-Jakob Syndrome* / epidemiology
Humans
Incidence
Male
Rare Diseases
Retrospective Studies