DR Medhat MRCP

Creutzfeldt-Jakob disease(CJD)
- It`s a degenerative incurable fatal neurological disorder caused by abnormal
(misfolded) protein called `Prion` which is embedded & replicate in the brain cells &
convert their properly folded protein to misfolded protein leading to rapid
neurodegeneration causing the brain tissue to develop holes → spong-like texture
• Classification :
Sporadic CJD (90% of cases, for the 1 st time)
Iatrogenic CJD (use of prion-contaminated medications ,grafts or instruments)
Familial CJD (10-15%, PRNP gene , autosomal dominant, at age ≥ 40 yrs)
New variant CJD (young patient 20-30 yrs ,transmitted by eating meat infected by
جنون ا لبقر cattles) bovine spongiform encephalopathy `BSE` in
• Clinical features :
A. Psychiatric symptoms & painful sensory symptoms in lower limbs (1 st symptoms):
Dementia (rapidly progressive)→ memory loss,personality changes,hallucinations
Depression
Irritability , OCD symptoms
B. Neurological features :
Myoclonic jerks.
Ataxia
Rigidity
Seizures
Appear 6 months
of initial symptoms.
Akinetic mutism
C. Visual & speech disturbances
• Investigations :
MRI :
- In new variant CJD : bilateral pulvinar (posterior thalamic nuclei) high signals.
- In sporadic CJD : ↑ intensity in cudate & putamen (=striatum)
EEG :
- In new variant CJD : normal
- In sporadic CJD : periodic wave complexes.
• Treatment :
- No treatment
- Survival is 2-12 months from presentation
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