CJD belongs to family of human transmissible spongiform encephalopathy. This is a rare and fatal degenerative brain disease caused by an abnormal prion protein.
Incidence: 1 case per million per year
Sporadic: Most common type. Cause is uncertain but likely due to spontaneous
mutation resulting in abnormal prion protein
Genetic: Autosomal dominant; commonest mutation - E200K mutation in PRNP
gene on chromosome 20
Iatrogenic: Transmission is through infected human growth hormone, corneal
grafts, dural grafts, intracranial EEG electrodes
New variant: Human form of bovine spongiform encephalopathy; acquired by
consumption of infected beef
Incoordination, pyramidal/extrapyramidal/cerebellar signs, myoclonus, blindness, coma
Early Stage: Lethargy, headache, insomnia, poor appetite and depression.
Later Stage: Impaired memory, personality changes, visual hallucinations, impaired
Imaging: MRI brain: may show changes in basal ganglia/thalamus
Lumbar Puncture: Presence of 14-3-3 and S100
EEG: Biphasic or triphasic periodic sharp waves
Biopsy: Brain biopsy is the gold standard test but only performed post mortem,
spongiform changes with vacuolation, neuronal loss and gliosis evident.
No curative treatment available yet
Symptoms relentlessly progress resulting in death.
Sporadic CJD patients have a prognosis of about 4-6 months.
Infection, heart failure, respiratory failure, death