The importance of ongoing international surveillance for Creutzfeldt–Jakob disease

Abstract

Creutzfeldt–Jakob disease (CJD) is a rapidly progressive, fatal and transmissible neurodegenerative disease associated with the accumulation of misfolded prion protein in the CNS. International CJD surveillance programmes have been active since the emergence, in the mid-1990s, of variant CJD (vCJD), a disease linked to bovine spongiform encephalopathy. Control measures have now successfully contained bovine spongiform encephalopathy and the incidence of vCJD has declined, leading to questions about the requirement for ongoing surveillance. However, several lines of evidence have raised concerns that further cases of vCJD could emerge as a result of prolonged incubation and/or secondary transmission. Emerging evidence from peripheral tissue distribution studies employing high-sensitivity assays suggests that all forms of human prion disease carry a theoretical risk of iatrogenic transmission. Finally, emerging diseases, such as chronic wasting disease and camel prion disease, pose further risks to public health. In this Review, we provide an up-to-date overview of the transmission of prion diseases in human populations and argue that CJD surveillance remains vital both from a public health perspective and to support essential research into disease pathophysiology, enhanced diagnostic tests and much-needed treatments.

Variant CJD: Reflections a Quarter of a Century on

“…This has raised the possibility that any future cases of vCJD occurring in PRNP codon 129 genotypes other than MM may be more difficult to identify based on clinical presentation. This highlights the importance of continued surveillance of human prion diseases in the UK, involving the post-mortem examination of patients [83]. Experimental transmission of brain isolates from the case of vCJD in a MV individual, into a wild-type mouse model, provided evidence that strain properties were identical to those observed for the agent associated with vCJD MM individuals [58].…”

“…In non-UK vCJD cases, the last case was reported in France in 2019 with the patient having an onset in 2017 (Figure 1) [81]. While dietary exposure to the BSE agent is recognised as the prevailing cause of vCJD cases [82], the last recorded case of vCJD has been associated with possible occupational exposure (i.e., a laboratory accident) [81,83].…”

Validation of Revised International Creutzfeldt-Jakob Disease Surveillance Network Diagnostic Criteria for Sporadic Creutzfeldt-Jakob Disease

“…1 Incidence has been increasing across multiple nations for several decades. [1][2][3] Clinical features include rapidly progressive cognitive decline with associated motor features and myoclonus progressing to akinetic mutism. 4 Median survival is 5 months.…”

Early Diagnosis of V180I Genetic Creutzfeldt-Jakob Disease at the Preserved Cognitive Function Stage

“…The patient was diagnosed with V180I genetic CJD at the preserved cognitive function stage with MMSE 29, FAB 17, and ACE-III 90. Given the development of new potential therapies to alter the natural history of prion diseases and inclusion in clinical trials before the occurrence of irreversible neurodegeneration, early diagnosis, especially in preserved cognitive function stage, has important clinical implications [ 9 , 10 ].…”