Creutzfeldt-Jakob disease (CJD) is a disease of the brain caused by prions. It involves a change in the protein structure of the brain, which subsequently changes into a kind of holey sponge. The signs of Creutzfeldt-Jakob disease are often similar to those of dementia. Unfortunately, this disease is still incurable, although medical science is doing intensive research in this field.
What is Creutzfeldt-Jakob disease?
What is Creutzfeldt-Jakob disease? Neurologist H.-G. Creutzfeldt was the first to report on Creutzfeldt-Jakob disease. Shortly after, Alfons Maria Jakob also published about the disease. Therefore, in 1922, the disease was given the epithet: Creutzfeldt-Jakob disease. This is an extremely rare but fatal disease in humans. Triggers of Creutzfeldt-Jakob disease are proteins (so-called prion proteins) that are misfolded. The particularly dangerous thing about these prion proteins is that the infectious proteins impose their altered shape on healthy individuals. Over time, this causes the brain to become perforated like a sponge. Therefore, the disease belongs to the group of transmissible spongiform encephalopathies (TSE). This means transmissible spongy brain disease.
Causes
There are several types of Creutzfeldt-Jakob disease. If it occurs without an identifiable external cause it is sporadic Creutzfeldt-Jakob disease. It usually affects people over the age of 65. It is the most common form of the disease, but the number of cases has remained relatively constant worldwide for years. The disease can also be hereditary. This is known as hereditary Creutzfeldt-Jakob disease. In addition, Creutzfeldt-Jakob disease can be triggered by an infection. In this case, the injection of human growth hormones in particular was a clear risk factor. However, transplantation of human meninges or corneas could also trigger “acquired” Creutzfeldt-Jakob disease. Another variant of Creutzfeldt-Jakob disease (vCJD for short) predominantly affects individuals under 30 years of age. It corresponds to the brain disease BSE observed in cattle. The vCJD was first described in England in 1996. Most likely, vCJD is causally related to the disease known as mad cow disease.
Symptoms, complaints, and signs
Creutzfeldt-Jakob disease is associated with very severe symptoms that significantly limit and reduce the patient’s quality of life. In this case, the affected person usually suffers from memory disorders, so that memory lapses and generally confusion of the affected person occur. Frequently, patients with Creutzfeldt-Jakob disease also suffer from disturbances in orientation or coordination, so that they can easily injure themselves or can no longer find their own home. Likewise, concentration disorders occur, so that even ordinary thinking, acting and speaking with other people is no longer possible. Similarly, paralysis can occur over the entire body, resulting in restricted movement. Many patients are dependent on outside help in their daily lives due to Creutzfeldt-Jakob disease and can no longer cope with everyday life on their own. Furthermore, depression or anxiety can occur, with the affected person often trembling or appearing restless. Muscle twitching can also occur in this disease. The symptoms are thus very similar to the symptoms of a typical dementia. In severe cases, the restrictions can be so high that the affected person is dependent on a wheelchair. Recognizing one’s own family members or other known persons is also associated with difficulties. Creutzfeldt-Jakob disease eventually leads to the death of the affected person.
Course
What is the course of Creutzfeldt-Jakob disease? In Creutzfeldt-Jakob disease, the patient loses his mental and motor abilities gradually at first, but then more and more rapidly. In addition to disturbances in perception, painful sensations and depression, memory disorders and even dementia occur. In addition, the coordination of movement sequences is disturbed. In Creutzfeldt-Jakob disease, muscle twitching and other involuntary movements also occur.MRI can detect changes in specific areas of the brain in Creutzfeldt-Jakob disease. In the late stage of Creutzfeldt-Jakob disease, a severe disturbance of the drive occurs. When awake, the affected person lacks any motivation to move or speak. According to current knowledge, Creutzfeldt-Jakob disease leads to death after an average duration of four to six months. However, there are patients who have died after only three weeks and others who were still alive after two years with a diagnosis of Creutzfeldt-Jakob disease.
Complications
Creutzfeldt-Jakob disease cannot be treated. In this case, the patient suffers from a number of symptoms, which worsen as the disease progresses. There are disturbances in movements as well as balance disorders. It begins with difficulty walking and performing everyday activities such as drinking or holding and using a knife and fork while eating. The patient requires a wheelchair at a certain stage of the disease or even becomes bedridden later on. The muscles also become stiff, so that at a late stage of the disease, the patient must also be helped to take food. In addition, psychological difficulties arise. Personality changes may occur. The patient needs regular care from trained staff, but also from family members. The family needs a lot of time, patience and care to take care of a patient with Creutzfeldt-Jakob disease. There is also a progressive dementia of the patient. This is manifested by a deterioration in the ability to concentrate as well as a disturbance in short-term memory. Patients become confused and may not recognize their own family members, or only sometimes. Creutzfeldt-Jakob disease eventually leads to the death of the affected patient. This can happen in a period of about one to one and a half years after the onset of the disease.
When should you see a doctor?
In Creutzfeldt-Jakob disease, the protein structure of the brain changes, eventually mutating into a kind of holey sponge. Although the disorder is considered incurable, if Creutzfeldt-Jakob disease is suspected, the patient should see a doctor immediately so that at least the symptoms can be treated. Sporadic Creutzfeldt-Jakob disease mainly affects people over the age of 65. People of this age who observe certain symptoms in themselves should therefore see a doctor promptly. Typical symptoms of Creutzfeldt-Jakob disease include memory deficits, balance and orientation disorders, lack of concentration, paralysis, tremors, depression, and non-threatening anxiety. The above-mentioned accompanying symptoms occur with numerous, even much more harmless, illnesses. Therefore, there is no reason to panic, but the symptoms should be taken as a reason to visit a doctor as soon as possible. This is especially true if the disorder has already occurred in the family, since a hereditary form of Creutzfeldt-Jakob disease also exists. A third variant of Creutzfeldt-Jakob disease occurs predominantly in young people under 30 years of age and is associated with the brain disease BSE observed in cattle. Symptoms are the same as those of sporadic and hereditary Creutzfeldt-Jakob disease. Young people should therefore not simply dismiss such symptoms, if they occur regularly, as a stress reaction, but should consult a physician promptly.
Treatment and therapy
How is Creutzfeldt-Jakob disease treated? Currently, there is no way to treat Creutzfeldt-Jakob disease. There is no way to stop or halt Creutzfeldt-Jakob disease. There is also no vaccination in sight. Therefore, so far, only the symptoms can be treated to give patients relief. Antidepressants (for depression) or neuroleptics (for agitation or hallucinations) are used. Antiepileptic drugs (such as clonazepam, valproic acid) help with muscle twitching. Research is currently being conducted at full speed into therapies for Creutzfeldt-Jakob disease. Anti-prion agents have shown promising results in animal studies. In addition, feverish efforts are being made to find a treatment that can halt the disease. So far, American scientists have already achieved success in this area.However, before final results are available, these therapeutic approaches still need to be investigated in larger patient groups. In 2000, a patient was diagnosed with vCJD first in Germany, then in the USA. This patient then apparently recovered. Since this is ruled out by current scientific knowledge, this was probably a misdiagnosis of vCreutzfeldt-Jakob disease.
Outlook and prognosis
The prognosis in Creutzfeldt-Jakob disease is different in all three variants. It should be noted that it is fatal in all cases. Thus, the sudden-onset variant of the disease leads to the death of the affected person within an average of six months. A familial variant, on the other hand, can last up to 40 months before death occurs. However, shortened disease pathways are also possible, leading to death within four months. The new variant of Creutzfeldt-Jakob disease, on the other hand, allows survival periods of 12-14 months on average as a prognosis. In addition, the course of the disease differs minimally between the three variants. However, all three lead to the typical loss of motor and cognitive abilities in the affected person. Because the mechanism of spongiform encephalopathy is still not fully understood, there is no prospect of a cure. Rather, it is likely that the hereditary forms in particular will continue to persist. By eliminating and avoiding all sources of danger (various animals and their components; especially bovine brains), a containment of diseases from this spectrum can be achieved. A germination of such an epidemic is considered unlikely according to current findings. In addition, the hereditary form is not transmissible, making it a purely genetic problem.
Follow-up
No sound methods currently exist for the follow-up of Creutzfeldt-Jakob disease. Because the disease is fatal, follow-up after therapy can only be symptomatic. In addition, there are still no forms of therapy for this disease that provide a cure. At best, the course is slowed down. The actual diagnosis of CJD can only be clearly established after death in the course of an autopsy. If clonazepam is administered for muscle tremor, the valproic acid level is tested regularly and the dose is adjusted to the current course. Magnetic resonance imaging is recommended to illustrate the course of the disease. Follow-up care primarily involves nursing staff in hospitals. Prions are transmissible from person to person, but only in direct contact with open wounds, blood or infectious tissue. Conventional hygiene is sufficient for normal patient contact. Infectious material generated during surgery must be disposed of properly. If contact with a patient’s body fluids is imminent, disinfect with sodium hypochlorite or sodium hydroxide. Special protective measures are recommended during surgical procedures. Wearing of double gloves and double protective clothing as well as protective eyewear is advised. Surgical instruments are disposed of as C waste. Prions adhere primarily to metallic surfaces and are extremely resistant to conventional sterilization methods, such as germicide by standard temperatures, alcohol, or UV radiation.
What you can do yourself
In Creutzfeldt-Jakob disease, the affected person should focus his attention on the processes he is able to perform depending on his health condition. Since the disease has a progressive course, it is important that there is a sufficient exchange of information between the physician and the patient about the further processes. On this basis, it is useful if life events are planned and restructured in time. Helpful are methods or accompanying therapies for an emotional strengthening of the ill person. In addition, in order to maintain general well-being, it is important to deal constructively with the fate of the disease. Close coordination with people from the immediate environment is very helpful in this regard. Together, developments can be discussed and boundaries can be set in order to minimize the burden on everyone affected in the social environment. A mental flexibility is helpful and positive attitude to life should be maintained by the ill person. To maintain motivation and participation in life, it is beneficial to discover new hobbies.These should be lived with optimism as well as confidence. Expectations of other people should be minimized and one’s own anxiety should be addressed openly. Often, sharing with people of a same diagnosis is inspiring to get helpful tips and build psychological stability.
