Variant Creutzfeldt Jakob disease
Preconditions
- Any person with a progressive neuropsychiatric disorder with a duration of illness of at least six months
- Routine investigations do not suggest an alternative diagnosis
- No history of exposure to human pituitary hormones or human dura mater graft
- No evidence of a genetic form of transmissible spongiform encephalopathy
Clinical criteria
Any person with at least four of the following five:
- Early psychiatric symptoms1
- Persistent painful sensory symptoms2
- Ataxia
- Myoclonus or chorea or dystonia
- Dementia
Diagnostic criteria
Diagnostic criteria for case confirmation:
- Neuropathological confirmation: spongiform change and extensive prion
protein deposition with florid plaques throughout the cerebrum and cerebellum
Diagnostic criteria for a probable or a possible case:
- EEG does not show the typical appearance3 of sporadic CJD in the early stages of the illness
- Bilateral pulvinar high signal on MRI brain scan
- A positive tonsil biopsy4
Epidemiological criteria
An epidemiological link by human to human transmission (e.g. blood transfusion)
Case classification
A. Possible case
Any person fulfilling the preconditions
AND
- meeting the clinical criteria
AND
- a negative EEG for sporadic CJD3
B. Probable case
Any person fulfilling the preconditions
AND
- meeting the clinical criteria
AND
- a negative EEG for sporadic CJD4
AND
- a positive MRI brain scan
OR
Any person fulfilling the preconditions
AND
- a positive tonsil biopsy
C. Confirmed case
Any person fulfilling the preconditions
AND
- meeting the diagnostic criteria for case confirmation
(1) Depression, anxiety, apathy, withdrawal, delusions.
(2) This includes both frank pain and/or dysaesthesia.
(3) The typical appearance of the EEG in sporadic CJD consists of generalised periodic complexes at approximately one per second. These may occasionally be seen in the late stages of vCJD.
(4) Tonsil biopsy is not recommended routinely nor in cases with EEG appearances typical of sporadic CJD, but may be useful in suspect cases in which the clinical features are compatible with vCJD and MRI does not show pulvinar high signal.
Current as of: 1 January 2019