Variant Creutzfeldt Jakob disease
Related Subjects:
|Dementias
|Gerstmann-Straussler-Scheinker Syndrome (GSS)
|Fatal Familial Insomnia (FFI)
|Creutzfeldt Jakob disease (CJD)
|Variant Creutzfeldt Jakob disease (vCJD)
|Kuru
🧠 A history of possible exposure to bovine spongiform encephalopathy (BSE) - such as residence or travel to a BSE-affected country after 1980 - raises suspicion for variant Creutzfeldt-Jakob disease (vCJD). First reported in the UK in 1996, it highlighted the zoonotic risk of prions.
📌 About
- Seen predominantly in younger patients (average onset 28–30 years).
- Linked to consumption of BSE-infected beef products.
- Course is more drawn out than sporadic CJD (average 13–14 months).
🧬 Diagnostic Criteria
- Definite:
- Numerous widespread kuru-type amyloid “florid plaques” in cerebrum and cerebellum.
- Spongiform change + prion protein deposition on immunohistochemistry.
- Probable / Suspected:
- Age at onset or death < 55 years.
- Onset with psychiatric symptoms or persistent painful dysaesthesias.
- Progression to dementia + ≥2 of: ataxia, myoclonus, chorea, hyperreflexia, visual signs.
- Illness duration > 6 months.
- EEG not showing typical classic CJD features.
- No PRNP mutation, no pituitary extracts or dural grafts, no family history of CJD.
🧾 Clinical Features
- Age of onset typically 28–30 years.
- Initial: behavioural / psychiatric disturbance (psychosis, depression, anxiety).
- Painful sensory symptoms (dysaesthesias) are characteristic.
- Progressive neurodegeneration → ataxia, myoclonus, cognitive decline.
- Fatal within 13–14 months of onset.
🔎 Investigations
- 🧪 EEG: usually non-specific, lacking classic periodic triphasic sharp-wave complexes.
- 🧪 CSF: may show 14-3-3 protein (but also positive in stroke/MS).
- 🧲 MRI: “Pulvinar sign” - high T2/FLAIR/DWI signal in posterior thalami, highly specific in the right context.
- 🔬 Biopsy: florid plaques, protease-resistant prion protein in lymphoid tissue (tonsil, appendix).
💊 Management
- No cure - supportive only.
- Report suspected cases to the UK CJD Surveillance Unit.
- Genetic counselling for families with inherited prion mutations.
📚 References
