Creutzfeldt Jacob Disease

Creutzfeldt Jacob Disease

Pathology:                   CJDbelongs to family of human transmissible spongiform encephalopathy. This is arare and fatal degenerative brain disease caused by an abnormal prion protein.

Incidence:1 case per million per year


Aetiology:                    Sporadic:Most common type. Cause is uncertain but likely due to spontaneous

                                                                mutation resulting in abnormal prion protein

Genetic: Autosomal dominant; commonest mutation - E200Kmutation in PRNP

                                                             gene on chromosome 20

Iatrogenic: Transmission is through infected human growthhormone, corneal

        grafts, dural grafts, intracranial EEG electrodes

New variant: Human form of bovine spongiform encephalopathy; acquiredby

consumption of infected beef


Symptoms:                   EarlyStage: Lethargy, headache, insomnia, poor appetite and depression.

Later Stage: Impaired memory, personality changes, visualhallucinations, impaired

                                                                     speech/swallow, dementia.


Signs:                             Incoordination, pyramidal/extrapyramidal/cerebellarsigns, myoclonus, blindness, coma


Investigations:         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 onlyperformed post mortem,

spongiform changes withvacuolation, neuronal loss and gliosis evident.


Treatment:                 No curative treatment availableyet


Complications:          Infection, heart failure, respiratory failure, death


Prognosis:                   Symptoms relentlessly progress resulting in death.

SporadicCJD patients have a prognosis of about 4-6 months.

VariantCJD patients with a prognosis of around 1 year


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