Creutzfeldt-Jakob disease (CJD) is a very rare, rapidly progressive disease of the brain.The disease is caused by proteins, so-called prions, which become infectious by altering their structure (misfolding) and destroy brain tie. Initial symptoms, such as a change in demeanor or impaired concentration, often resemble those of Alzheimer's disease. As Creutzfeldt-Jakob disease progresses, there is rapid loss of brain function, bedriddenness and death. The disease is not curable. BSE, a then new variant of Creutzfeldt-Jakob disease that can be transmitted to humans through the consumption of BSE-infected beef, hit the media headlines in the 1990s.
Frequency of Creutzfeldt-Jakob disease
In Austria, the rate of new cases of Creutzfeldt-Jakob disease is low. The total annual incidence is 1 to 2 cases per million inhabitants. Creutzfeldt-Jakob disease can occur in 4 different forms:
Variant of Creutzfeldt-Jakob disease (vCJD)
In the mid-1990s, the first cases of BSE, better known as "mad cow disease," occurred, in Great Britain on. As the name of BSE suggests – bovine spongiform encephalopathy "the spongy brain disease of cattle" – says this brain disease first affects cattle and can reach humans through the food chain. In 2011, around 210 cases of vCJ were registered worldwide, most of them in Great Britain and France. In contrast to the other 3 forms, this variant mainly affects young people. It is also incurable and fatal. In Austria, not a single case of such a variant of the disease has been registered so far, so the risk of contracting BSE tends to zero.
Sporadic Creutzfeldt-Jakob disease
This classic form of Creutzfeldt-Jakob disease has been known in the medical community for almost 100 years and remains the most common. Approximately 1 to 2 people in a million are affected worldwide. Symptoms usually appear in advanced age (50 years and older); disease in people under 30 is very rare. The incidence of sporadic Creutzfeldt-Jakob disease in Austria has been relatively constant over the last 10 years, always between 1 and 2 cases per million population.
Genetic Creutzfeldt-Jakob disease
This familial form of Creutzfeldt-Jakob disease comprises a group of diseases in which a defective gene is passed on to the offspring. These forms of the disease usually appear around the age of 50. The onset of Creutzfeldt-Jakob disease is slower in people around the age of 50. The incidence of genetic Creutzfeldt-Jakob disease is 10.
Iatrogenic Creutzfeldt-Jakob disease
In this form, the pathogens are transmitted during surgical procedures (z.B. in corneal or meningeal transplants) and other medical treatments (z.B. with human growth hormones) transmitted through contamination. Approximately 250 cases are known worldwide. Due to the strict medical standards in most countries, transmission by this route can nowadays be virtually ruled out.
Table: Creutzfeldt-Jakob disease
Variant Creutzfeldt-Jakob disease (VCJD), transmitted by BSE agents ("mad cow disease")
Sporadic Creutzfeld-Jakob disease
people of advanced age
1 to 2 cases per million population
Genetic Creutzfeldt-Jakob disease
People around the age of 50. Year of life
Iatrogenic Creutzfeld-Jakob disease
People of any age
Approximately 250 cases worldwide
Causes of Creutzfeldt-Jakob disease
The development of Creutzfeldt-Jakob disease is thought to be caused by abnormal changes in the body's own proteins (prions). These are tiny, virus-like pathogens transmissible to humans and animals that can be present in the body for a long period of time without causing symptoms and, in very rare cases, suddenly cause brain disease. In variant Creutzfeldt-Jakob disease, animal prions are thought to have been transmitted to humans through ingestion of BSE-contaminated food, to lodge in the brain, and to form abnormal protein bodies there. The brain, spinal cord, skull, intestine and spleen are considered to be particularly risky parts of the cattle. In the sporadic form of Creutzfeldt-Jakob disease, the exact cause is still unknown.
Symptoms of Creutzfeldt-Jakob disease
The first symptoms of CJD are mostly:
– changes in character – irritability – indifference – concentration, memory and coordination disorders – orientation and sleep disorders
Later, various other abnormalities may become apparent:
– unsteady, shaky gait – speech disturbances – visual disturbances – involuntary muscle twitching – muscle stiffness
After the first symptoms appear, the disease usually progresses rapidly. Memory loss and mental deterioration (dementia) occur, the affected persons are no longer aware of their surroundings, become bedridden and in need of care.
The first symptoms of the Creuztfeldt-Jakob variant may be somewhat different: the affected person is anxious, confused, depressed, may suffer from persecutory delusions and hallucinations. Sensory disturbances, such as pain or numbness and insensibility, are also frequent. After a few weeks, similar neurological symptoms begin to appear. Developments as in the other forms of CJD. Sporadic Creutzfeldt-Jakob disease is characterized by a sudden onset. A very rapid course of the disease characterized. The patient dies within a period of a few months to a year.
The average age of those newly diagnosed with variant Creutzfeldt-Jakob disease is significantly lower than those with sporadic Creutzfeldt-Jakob disease. It averages 28 years in the former compared to 65 years in the latter. In addition, they differ in symptoms and length of the disease course of an average of 14 months in the variant Creutzfeldt-Jakob and an average of 6 months in the sporadic form.
If the disease was transmitted by eating beef, it can take up to 13 years for the disease to break out. Creutzfeldt-Jakob is not curable. If the disease has broken out, it damages brain tie and leads to death.
Diagnosis of Creutzfeldt-Jakob disease
A whole series of examinations is necessary to determine whether Creutzfeldt-Jakob disease is actually present. If initial signs such as dementia, personality changes and physical symptoms such as balance disorders or changes in gait are present, the physician will initiate various diagnostic procedures in order to narrow or. Exclude. They can be:
MRI: A magnetic resonance image can show changes in specific areas of the brain, both in sporadic and variant Creutzfeldt-Jakob disease.
EEG: Brain wave measurements can also provide clues to the disease.
Lumbar puncture: Sampling cerebrospinal fluid from the spinal canal can be used to detect whether a certain protein is elevated in the cerebrospinal fluid.
Genetics: In the inherited form of the disease, examinations of the genetic material are performed.
Tie sample: In variant Creutzfeldt-Jakob disease, a tie sample can be taken from the adenoids; this often reveals the presence of an abnormal protein, prion protein. For all forms of Creutzfeldt-Jakob disease, a definitive diagnosis can still only be made neuropathologically, usually only after the patient has died, by means of brain autopsy.
Therapy of Creutzfeldt-Jakob disease
Since Creutzfeldt-Jakob disease cannot be cured, therapeutic measures can only be aimed at alleviating the suffering of those affected and making existing impairments and pain bearable. Patients often suffer from urinary tract infections or pneumonia. Effective medications are available to treat seizures, anxiety disorders or muscle twitches. As the disease progresses and requires care, the patient should be repositioned frequently to avoid bedsores. In the final stages, artificial feeding is often necessary because the patient can no longer swallow.