Overview
Creutzfeldt-Jakob disease (CJD) is a prion disease. It is rare and fatal. Prion diseases are thought to be the result of misshaped proteins (prions) accumulating in the brain causing irreversible damage. Prions can transmit their misfolded shape onto other normal versions of the same protein.
CJD is a notifiable disease and prion diseases are terminal.
Types
There are different forms of CJD:
- Sporadic (85% of cases)
- Thought to be due to a spontaneous mutation leading to a prion protein.
- It is not transmitted.
- Hereditary (<15% of cases)
- Usually dominant inheritance
- Iatrogenic
- May be transmitted from tools in neurosurgery, tissue grafts, or central nervous systems of cadavers
- New-variant CJD (nvCJD)
- Linked with bovine spongiform encephalopathy (mad cow disease) and thought to be transmitted through eating infected meat products
Epidemiology
- It is a very rare disease, from 1990–2009, there were 1438 deaths from the different forms of CJD
- Sporadic CJD age of onset is usually 45-75
- CJD is a notifiable disease
Risk Factors
- Family history
- Prion-contaminated instruments in surgery
- Transfusion of blood/blood products – the risk is extremely low and this has only happened 5 times in the UK.
- Consumption of beef – the risk is extremely low
Presentation
The onset is much more acute compared to Alzheimer’s disease etc.
- Cognitive impairment
- Memory loss
- Executive functioning
- Gait ataxia
- Myoclonus
- Parkinsonism
- Behavioural changes:
- Agitation
- Depression
- Visual changes e.g. diplopia
- Hallucinations
- Painful sensory symptoms
- Movement disorders e.g. chorea
Investigations
- Any patient with rapidly progressive dementia should have an MRI as soon as possible
- EEGs should also be performed
Management
There is no cure. All patients have supportive and palliative care.
Prognosis
- There is no cure and CJD eventually leads to death.
- No one is known to have lived longer than 2.5 years after the onset of symptoms
