Creutzfeldt-Jakob is a very rare disease that occurs in humans following an infection by a prion, i.e. a typically normal protein in the body, but in an abnormal form. This protein is mainly present in the brain, and the disease is also known as spongiform encephalopathy. It causes the degeneration of cells of the central nervous system and their evolution towards dementia. Symptoms may appear several years after infection, but the mode is not well known. The injection of growth hormones extracted from human pituitary glands infected in the early 1980s, the use of certain surgical equipment or brain transplants are the main modes of contamination. There are several forms of Creutzfeldt-Jakob disease, such as the idiopathic form, a random occurrence that is the most frequent form, due to contamination by human tissues (graft, human hormones), the hereditary form by genetic mutation, or the form acquired from eating the brain or spinal cord of an infected cow.
Depending on the form of the disease, symptoms vary slightly, but you can generally find some that are fairly common:
- dementia or cognitive impairment: impaired memory function, language, organization ...;
- psychological disorders such depression and anxiety;
- anarchic and uncontrolled movements;
- presence of various neurological disorders.
Some tests may help to make a diagnosis:
- MRI brain scans that come back normal;
- an electroencephalogram, or EEG, which shows the electrical activity of the brain;
- a lumbar puncture, a cerebrospinal fluid sampling in search of a specific protein;
- in the case of hereditary form, a search for the mutated gene is possible.
The diagnosis is usually confirmed after the death of the subject, following an examination of brain tissue.
A case of Creutzfeldt-Jakob must be reported to public health authorities.
Creutzfeldt-Jakob has a poor prognosis. The death is the normal outcome for the disease, because there is still no treatment. The infected patient gradually loses his cognitive faculties. Death usually occurs within one year after the onset of symptoms. The development is quite fast, after finding the first symptoms. Most of the support is based on palliative care and social and psychological support.