An update on the epidemiology and key issues associated with the diagnosis and management of Creutzfeldt–Jakob disease cases in NSW

Abstract

Creutzfeldt-Jakob disease (CJD) is a fatal disease caused by the accumulation of abnormal prion proteins in neurological tissues. Routine notification data reveal that NSW has similar rates of CJD to other states and territories in Australia; however, it is likely that there is significant underascertainment of cases. It is important that clinicians and public health staff remain vigilant for the clinical signs of CJD and understand the limitations of the different diagnostic tests available. This paper provides a brief overview of the epidemiology of CJD in NSW, as well as current issues in the diagnosis and public health investigation of CJD.

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

“…Transmissibility of CJD, in the context of humanto-human transmission of prions, is extremely rare. The few cases of such transmission, as reported in the literature, have been inadvertent prion contamination during blood transfusion, surgical procedures, or other similar interventions [1][2][3]. The underlying cause of CJD has been attributed to the misfolding of the cellular prion protein (PrP) which is capable of self-propagation, once transmitted to a new host [4].…”

“…Spontaneously acquired, or the sporadic, CJD is the most common form of this disease, accounting for nearly 90% of all reported cases. Familial CJD cases are rarer, accounting for ∼10% of reported global cases and <1% of CJD is acquired through contact with contaminated human or animal tissues [1,5].…”

“…The median age of death is approximately 65 years with a median disease duration of ∼4 months. Ninety percent of CJD patients are known to die within 1 year of diagnosis [1,2,5]. About 500 cases of iatrogenic spread, of sporadic CJD, have been reported worldwide, all of which are associated with either use of contaminated human tissues or neurosurgical equipment [5].…”

“…The cardinal symptoms, associated with this disease, include rapidly progressing dementia, cerebellar ataxia, and myoclonus, often also observed in other neurodegenerative conditions. A wide spectrum of associated phenotypic symptoms makes the clinical diagnosis of CJD difficult, and diagnostic tests play a vital role in detecting the disease [1][2][3][4][5].…”

“…Despite the widely accepted global incidence rate for CJD being 1 case per million people, multiple jurisdic-tions around the globe have reported rising incidence rates of this disease over the past few decades [7][8][9]. According to the Communicable Diseases Unit, of the Australian government, Australia's CJD prevalence remains at 1 per 1 million people [1]. Within the South Western Sydney Local Health District (SWSLHD) precinct, there appears to be an increase in the number of patients being diagnosed with CJD in the past decade.…”