Revision of the Sporadic Creutzfeldt-Jakob Disease International Surveillance Network Diagnostic Criteria

Genetic brain disorders, conceptual computer illustration.
All individuals in the study who died between 2017 and 2019 due to sporadic Creutzfeldt-Jakob disease (sCJD) and controls who had alternative neuropathological diagnoses were assessed for sCJD using the original and revised diagnostic criteria.

The revised sporadic Creutzfeldt-Jakob disease (sCJD) diagnostic criteria were found to have improved sensitivity, enhancing in-life diagnostic accuracy. These findings were published in JAMA Network Open.

Data were sourced from national surveillance programs of the United Kingdom (UK), France, Italy, and Germany. All individuals who died between 2017 and 2019 due to sCJD (n=501) and controls (n=146) who had alternative neuropathological diagnoses were assessed for sCJD using the original and revised diagnostic criteria.

The cases and controls were 50.5% and 50.7% men, aged mean 68.8 (standard deviation [SD], 9.8) and 72.8 (SD, 10.9) years at death or biopsy (P <.001), and the median duration of their disease was 118 (IQR, 74.75-222.25) and 85 (IQR, 51.5-205.5) days (P =.002), respectively.

The sCJD cases presented with significantly more rapid progressive cognitive decline and myoclonus, cerebellar, visual, pyramidal, extrapyramidal, and akinetic mutism features (all P ≤.001).

The proportion of sCJD cases classified as probable increased from 77.5% using the original diagnostic criteria to 92.2% (P <.001) using the revised criteria, indicating an increase in sensitivity. The specificity of the test was unchanged after the revision (P >.99).

Among the cases, the revised criteria increased the proportion of probable cases by 14.7% and decreased the proportion of possible and unclear cases by 6.5% and 8.2%, respectively. For the controls, the proportion of probable cases increased by 0.8% and possible cases decreased by 0.8%.

In sensitivity analyses, significant differences were not observed among polymorphism subgroups or on the basis of disease duration.

This study was limited by using autopsy data, as the majority of patients with sCJD do not undergo autopsy. Therefore, this study population may be biased toward individuals who were not able to be diagnosed during life.

“In this study, we demonstrated the excellent performance of the revised CJD International Surveillance Network diagnostic criteria. Our results showed that the new criteria greatly enhanced in-life case classification, with improvements among cases with clinically limited sCJD and with prolonged survival. Rapid, accurate in-life diagnosis enables effective supportive care, public health interventions, and clinical trial recruitment,” the study authors concluded.

Disclosure: Multiple authors declared affiliations with industry. Please refer to the original article for a full list of disclosures.


Watson N, Hermann P, Ladogana A, et al. Validation of revised international Creutzfeldt-Jakob disease surveillance network diagnostic criteria for sporadic Creutzfeldt-Jakob disease. JAMA Netw Open. 2022;5(1):e2146319. doi:10.1001/jamanetworkopen.2021.46319