Diagnostic Criteria
CDC’s Diagnostic Criteria for Creutzfeldt-Jakob Disease (CJD), 2018
[Adapted from: a) Global surveillance, diagnosis, and therapy of human transmissible spongiform encephalopathies: Report of a WHO consultation, February 9-11, 1998, Geneva, Switzerland; b) Zerr I, Kallenberg K, Summers DM, et al. Updated clinical diagnostic criteria for sporadic Creutzfeldt-Jakob disease. Brain 2009, 132; 2659-2668; and c) National CJD Research & Surveillance Unit. Protocol: Surveillance of CJD in the UK pdf icon[PDF – 3.03MB]external icon (Accessed 15 Aug 2018)
1. Sporadic CJD
Definite:
- Diagnosed by standard neuropathological techniques; and/or immunocytochemically; and/or Western blot confirmed protease-resistant PrP; and /or presence of scrapie-associated fibrils.
Probable:
- Neuropsychiatric disorder plus positive RT-QuIC in cerebrospinal fluid (CSF) or other tissues
OR
- Rapidly progressive dementia; and at least two out of the following four clinical features:
- Myoclonus
- Visual or cerebellar signs
- Pyramidal/extrapyramidal signs
- Akinetic mutism
AND a positive result on at least one of the following laboratory tests
- a typical EEG (periodic sharp wave complexes) during an illness of any duration
- a positive 14-3-3 CSF assay in patients with a disease duration of less than 2 years
- High signal in caudate/putamen on magnetic resonance imaging (MRI) brain scan or at least two cortical regions (temporal, parietal, occipital) either on diffusion-weighted imaging (DWI) or fluid attenuated inversion recovery (FLAIR)
AND without routine investigations indicating an alternative diagnosis.
Possible:
- Progressive dementia; and at least two out of the following four clinical features:
- Myoclonus
- Visual or cerebellar signs
- Pyramidal/extrapyramidal signs
- Akinetic mutism
AND the absence of a positive result for any of the four tests above that would classify a case as “probable”
AND duration of illness less than two years
AND without routine investigations indicating an alternative diagnosis.
2. Iatrogenic CJD
Progressive cerebellar syndrome in a recipient of human cadaveric-derived pituitary hormone; or sporadic CJD with a recognized exposure risk, e.g., antecedent neurosurgery with dura mater implantation.
3. Familial CJD
Definite or probable CJD plus definite or probable CJD in a first degree relative; and/or Neuropsychiatric disorder plus disease-specific PrP gene mutation.