Diagnostic Criteria for Sporadic Creutzfeldt-Jakob Disease (sCJD)

Classic Creutzfeldt-Jakob Disease (CJD) is a human prion disease. It is a neurodegenerative disorder with characteristic clinical and diagnostic features. This disease is rapidly progressive and always fatal. Infection with this disease leads to death, usually within 1 year of onset of illness. The criteria for clinical diagnosis plus the CSF real-time quaking-induced conversion (RT-QuIC) accurately identifies patients with sCJD (sensitivity 97%, specificity 99%).

Diagnostic Criteria for Creutzfeldt-Jakob Disease (CJD)

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
• 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:
  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.

 

References:

1. Zerr I, Kallenberg K, Summers DM, Romero C, Taratuto A, Heinemann U, Breithaupt M, Varges D, Meissner B, Ladogana A, Schuur M, Haik S, Collins SJ, Jansen GH, Stokin GB, Pimentel J, Hewer E, Collie D, Smith P, Roberts H, Brandel JP, van Duijn C, Pocchiari M, Begue C, Cras P, Will RG, Sanchez-Juan P. Updated clinical diagnostic criteria for sporadic Creutzfeldt-Jakob disease. Brain. 2009 Oct;132(Pt 10):2659-68. [Medline]
2. Meissner B, Kallenberg K, Sanchez-Juan P, Collie D, Summers DM, Almonti S, Collins SJ, Smith P, Cras P, Jansen GH, Brandel JP, Coulthart MB, Roberts H, Van Everbroeck B, Galanaud D, Mellina V, Will RG, Zerr I. MRI lesion profiles in sporadic Creutzfeldt-Jakob disease. Neurology. 2009 Jun 9;72(23):1994-2001. [Medline]
3. Hermann P, Laux M, Glatzel M, et al. Validation and utilization of amended diagnostic criteria in Creutzfeldt-Jakob disease surveillance. Neurology. 2018;91(4):e331-e338. [Medline]

 

Created: Jan 08, 2010
Update: Jul 18, 2020