What is Creutzfeldt-Jakob disease?

Creutzfeldt-Jakob disease is a prion disease or a transmissible spongiform encephalopathies. They are a group of rare neurodegenerative diseases. Of these diseases, the most prevalent is Creutzfeldt-Jakob.

They are known as ‘prion diseases’ because of the agent that causes them, a ‘prion’, which is an abnormal form of a protein. These pathologies are also called transmissible spongiform encephalopathies, because the neurodegeneration that is part of these diseases causes the brain to look like a ‘sponge’ when viewed under a microscope. These diseases can be transmitted from one subject to another under very specific conditions, hence the ‘transmissible’.    

They usually present as rapid and progressive neurological deterioration. On average, patients die within 6 months of the onset of symptoms, but on occasion life expectancy can vary from 1 month to 20 years.

Symptoms include:

• Cognitive deterioration.
• Disturbances in the coordination of movements and gait.
• Behavioural disturbances, abnormal vision and/or movements, leading to death within a short period of time.

Prion diseases affect between 1 and 2 people per million each year. They are diseases that affect people of a relatively young age. The average age of symptom onset is around 66 years, but there have also been cases in the age range of 11 to 88 years.