WHAT IS CREUTZFELDT-JAKOB DISEASE?
Creutzfeldt-Jakob Disease, or CJD, was first described by German neurologist Hans Gerhard-Creutzfeldt and shortly after by Alfons Maria Jakob. Together, and probably after a long discussion about who's name came first, Hans clearly won and CJD was defined way back in the 1920s.
If you've heard of 'bovine spongiform encephalopathy' (and who hasn't) you may recognise it by its more common name 'mad-cow disease'. CJD is sometimes referred to as the human-version of that, but that's not strictly true, although they are both part of the same family of diseases, known as Transmissible Spongiform Encephalopathies (or TSE).
There are a number of different types of CJD which, in alphabetical order, are:
- Familial / Inherited; a rare genetic condition where a gene (called a prion), inherited from your parents, carries a mutation that causes other prions to form and triggers CJD. It usually occurs in your early 50s and affects around 1 in every 9 million people in the UK alone.
- Iatrogenic; occurs when CJD is accidentally spread through medical or surgical treatments. If, for example, someone with CJD is operated on and the surgical implements aren't cleaned properly and then reused, it can spread to the next person. It is worth saying that this is very rare nowadays.
- Sporadic is the most common type of CJD (around 85% of all cases) but still very rare in itself. It occurs when a normal brain protein sporadically changes (or misfolds) into a prion. It appears even though you may have no known risk factors for the disease.
- Variant is most likely to be caused when meat from a cow that had BSE is consumed. It can also be transferred by blood transfusion but, again, this is incredibly rare.
CJD is a rapidly progressive form of dementia. When it first begins to take hold, people will experience problems with their muscular coordination, changes in personality, impaired judgement and memory retention. As the condition develops, the symptoms may vary depending on the type of CJD they have.
Sporadic and Familial CJD symptoms tend to affect the nervous system and worsen within just a few months, although Familial CJD symptoms tend to worsen over years, rather than months. Variant CJD affects the behaviour and emotions of the person, whilst the symptoms associated with Iatrogenic CJD are more unpredictable and can vary depending on how they were exposed to the infectious protein that initially caused it.
Initial symptoms include:
- Difficulty in balancing or walking.
- Slurred speech.
- Hallucinations or double vision.
- Isolation from family and friends.
As the disease develops, the symptoms can include much more extreme cases of those mentioned above, but also may manifest themselves as:
- Loss of bladder or bowel control.
- Muscle twitches.
As the disease reaches its final stages, those with CJD will be become bedridden and the symptoms will become worse eventually leading to death around 6 months after the first appearance of symptoms.
WHAT CAUSES CREUTZFELDT-JAKOB DISEASE?
Creutzfeldt-Jakob disease is caused by the infection of an abnormally shaped protein called a prion. They can't be destroyed by heat, radiation or medication in the same way other bacteria or viruses can.
These prions build up at high levels in the brain and once there, cause irreversible damage to nerve cells resulting in the symptoms mentioned above.
When the brain cells die, they release more prions which go on to affect other cells. Eventually a cluster of brain cells are killed off and deposits of prions (called plaques) appear in the brain. The brain begins to develop small holes which makes it look sponge-like (hence the term 'spongiform'.)
WHAT TREATMENTS ARE AVAILABLE?
Sadly, CJD is a terminal condition and there isn't (as we write this in October 2015) a cure. Because of that any treatment is designed to relieve the symptoms and make the disease as painless as possible.
If you (or someone you know) live with Creutzfeldt-Jakob disease, there may be some organisations on our Where To Turn pages that can help you. If not, and you know of one, please let us know and we'll look into it.
Also, if you'd like to share your (or their) experiences of living with Creutzfeldt-Jakob disease with our community so they can better understand how it feels, please take a look at our 'Men Tell' section.