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 Cdc-pdf[PDF – 3.03MB]External. Brain 2009, 132; 2659-2668; and c) National CJD Research & Surveillance Unit. Protocol: Surveillance of CJD in the UK.  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:
    1. Myoclonus
    2. Visual or cerebellar signs
    3. Pyramidal/extrapyramidal signs
    4. 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; and/or
  • a positive 14-3-3 CSF assay in patients with a disease duration of less than 2 years
  • Magnetic resonance imaging (MRI) high signal abnormalities in caudate nucleus and/or putamen 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:
    1. Myoclonus
    2. Visual or cerebellar signs
    3. Pyramidal/extrapyramidal signs
    4. 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.