| Gerstmann-Straussler-Scheinker Syndrome (GSS)
| Fatal Familial Insomnia (FFI)
| Creutzfeldt Jakob disease (CJD)
| Variant Creutzfeldt Jakob disease (vCJD)
A history of possible exposure to bovine spongiform encephalopathy (BSE) such as residence or travel to a BSE-affected country after 1980 increases the index of suspicion for a variant CJD diagnosis.
- Variant CJD seen in younger people
- Prion disease in cows, bovine spongiform encephalopathy UK 1996
- Has a more drawn out the course 13-14 months
- Numerous widespread kuru-type amyloid plaques surrounded by vacuoles in both the cerebellum and cerebrum – florid plaques.
- Spongiform change and extensive prion protein deposition shown by immunohistochemistry throughout the cerebellum and cerebrum.
- Current age or age at death <55 years (brain autopsy recommended)
- Psychiatric symptoms at illness onset and/or persistent painful sensory symptoms (frank pain and/or dysesthesia).
- Dementia, and development > 4 months after illness onset of at least two of the following five neurologic signs: poor coordination, myoclonus, chorea, hyperreflexia, or visual signs. (If persistent painful sensory symptoms exist, =4 months delay in the development of the neurologic signs is not required).
- Normal or an abnormal EEG, but not the diagnostic EEG changes often seen in classic CJD.
- Duration of illness of over 6 months.
- Routine investigations do not suggest an alternative, non-CJD diagnosis.
- No cadaveric human pituitary growth hormone or a dura mater graft.
- No CJD in a first degree relative or prion protein gene mutation in the patient.
- Age of onset 28-30 years old and course last 13-14 months
- Psychosis and behavioural onset and Painful dysthesias
- Progressive neurodegeneration
- EEG - periodic triphasic sharp-wave complexes not seen typically
- CSF - Protein 14-3-3 (also seen in MS and acute stroke)
- MRI of the brain: Pulvinar sign - an abnormal signal in the posterior thalami on T2 and DWI and FLAIR sequences on MRI; in the appropriate clinical context, this signal is highly specific for vCJD.
- Brain biopsy: Florid plaques
- Biopsy: protease resistant prior protein in lymph nodes
- None - only supportive
- Inform CJD surveillance unit if you have a suspected case
- Genetic counselling for familial types