Transmissible spongiform encephalopathy ( TSE ) is a transmissible, progressive brain disease that is always fatal. The TSE are caused by so-called prions. There are both acquired and hereditary forms of the disease.
What is transmissible spongiform encephalopathy?
Transmissible spongiform encephalopathy is a collective term for transmissible spongy brain diseases. As the disease progresses, holes form in the brain, which leads to its spongy appearance. Misfolded proteins, also known as prions, were found to be the cause of the disease. For slang kluver-bucy syndrome, please visit electronicsencyclopedia.com.
Prions are glycoproteins. They are mainly located in the cell membrane of nerve cells. Normally they are harmless to the organism and even have important protective functions. They take on the task of protecting the cells from free radicals, hydrogen peroxide and divalent copper ions. However, what is decisive for the function of the prions is their tertiary structure.
The tertiary structure is the spatial structure of the protein molecule that results from its folding. The prion must be folded in such a way that the protein can be broken down at any time. A prerequisite for this is its solubility in water. In the case of misfolded prions, however, the water-repellent atomic groups are not inside the folded molecule, as is usually the case, but outside.
As a result, it becomes insoluble in water and is increasingly deposited in the brain in the form of aggregates. The protein deposits eventually lead to the unstoppable destruction of the brain. This process begins with its gradual spongy perforation. So far there is no curative therapy that could stop this destructive process.
Research results brought the realization that misfolded pions also cause the normally folded ones to refold. As a result, if a few misfolded protein molecules are present, a refolding process can begin that resembles a domino effect and only ends when there are no longer any healthy prions. In humans, four forms of TSE in particular are known.
These include Creutzfeldt-Jakob disease (CJD), fatal familial insomnia (FFI), Gerstmann-Straussler-Scheinker syndrome (GSSS), and kuru. Animal forms of TSE include scrapie in sheep or BSE in cattle (mad cow disease).
All forms of TSE can be caused by misfolded prions. Why the misfolding of these protein molecules occurs has not yet been fully explained. Both genetic factors and the transmission of diseased prions play a role. With certain genetic predispositions there is an increased risk of the body’s own prions suddenly folding over.
Once this process has started, all prions refold in the long term, because a misfolded protein molecule causes the other prions to refold in a domino effect. But even if there is no hereditary predisposition, incorrectly folded prions that have entered the body from outside can start this refolding process. This occurs, for example, when eating meat from cattle suffering from BSE or sheep suffering from scrapie.
Here, a disease develops in humans that is similar to the classic Creutzfeldt-Jakob disease caused by internal processes. A particular form of TSE is the Kuru prion disease found in the Fore people of Papua New Guinea. This disease became epidemic in the twentieth century due to the custom of consuming the brains of the deceased.
Gerstmann-Straussler-Scheinker syndrome (GSSS) and fatal familial insomnia (FFI) are genetic and are similar to Creutzfeldt-Jakob disease. Creutzfeldt-Jakob disease can be sporadic, genetic or transmitted. The TSE is therefore in the strange situation that a hereditary disease can be transmitted like an infectious disease. Transmission can take place, among other things, through the consumption of BSE-contaminated meat or through transplantation of infectious meningeal or corneal tissue.
Symptoms, Ailments & Signs
As a rule, the first symptoms of classic Creutzfeldt-Jakob disease develop at an average age of 65 years. These are sporadic cases of illness. In recent years, a new variant of Creutzfeldt-Jakob disease has developed, which is mainly caused by the consumption of BSE-contaminated meat and already occurs in children and young adults.
Creutzfeldt-Jakob disease, like the other forms of transmissible spongiform encephalopathy, often first manifests itself through psychological symptoms such as mood swings, anxiety, depression or even delusions. Impairment of the short-term memory occurs already at the beginning.
There is also severe tiredness, painful sensations, nausea, dizziness and coordination and movement disorders . Muscle tremors and epileptic seizures also occur. Finally, in the final stage, severe dementia develops with refusal to eat. The failure of all brain functions then quickly leads to death. Similar symptoms also develop in the other forms of TSE.
Diagnosis & course of disease
TSE can only be definitively diagnosed after the patient has died. Certain conclusions about the possible presence of a TSE can only be drawn during the lifetime on the basis of organic brain changes detected by imaging methods.
The symptoms of this disease are usually not very meaningful and do not point directly to the disease. For this reason, it is often only diagnosed and treated very late. The patients suffer from permanent tiredness and exhaustion and for this reason do not participate directly in everyday life. Anxiety and depression also occur frequently and have a very negative effect on the quality of life of those affected.
This leads to confusion and also to delusions. Furthermore, this disease can lead to disturbances in coordination and concentration, which can lead to developmental disorders, especially in children. The disease also has a negative effect on the food intake of those affected, so that most patients suffer from dehydration or various deficiency symptoms.
As a rule, this disease cannot be treated. The patients are therefore dependent on the help of the family or the help of nurses in their everyday life. In many cases, the impairments also result in a reduced life expectancy for the patient.
When should you go to the doctor?
With this disease, the sufferer must always consult a doctor. It cannot heal itself, so without treatment the symptoms usually worsen. For this reason, a doctor should be consulted at the very first signs and symptoms of this disease in order to prevent further complications or symptoms. Early diagnosis with subsequent treatment always has a positive effect on the further course of the disease.
A doctor should be contacted if the person concerned suffers from severe mental disorders. It usually leads to depression or even delusions. Anxiety or severe mood swings can also occur and have a very negative effect on the quality of life of those affected. If you have these symptoms, you should always consult a doctor. Epileptic seizures or strong tremors in the muscles can also indicate the disease.
In the case of these complaints, a general practitioner or a psychologist is primarily consulted. Further treatment depends heavily on the severity of the symptoms and the underlying disease.
Treatment & Therapy
There is currently no curative therapy for TSE. The course of the disease can neither be stopped nor slowed down. Only symptomatic treatment methods are available.
It is not possible to prevent a sporadically occurring or genetically caused TSE. Only the transmission of prion diseases can be restricted by various measures. These measures include widespread BSE testing in cattle, scrapie testing in sheep and the removal of high-risk materials such as brains and tonsils from slaughter. Intensive examinations must be carried out before transplantation of cornea or meningeal tissue.
Transmissible spongiform encephalopathy cannot be cured, so there is no effective follow-up care. However, the symptoms of the progressive, deadly disease can be alleviated with the help of appropriate measures. The treatment methods in the context of preventive and aftercare include, among other things, the early clarification of the symptoms and the disease itself with the treating doctor.
This provides specific information about the disease and points out how important open communication with family, friends and acquaintances is. Due to the rapid progression of the disease, patients soon need helping hands in everyday life. In addition, a health-conscious lifestyle can have a positive effect on the symptoms of some forms of the disease. With a balanced, nutritious diet and exercise, the disease process slows down and patients feel better overall.
With all the important information about the disease, it is possible to arm yourself against the symptoms. Visiting a self-help group is a good way to overcome your own fears. Those affected and their families may also need psychological help from psychotherapists. Under these aspects, follow-up care relates primarily to acceptance of the disease and dealing with one’s own mortality.
You can do that yourself
Transmissible spongiform encephalopathy can only be self-treated to a limited extent. The disease cannot be treated and is always fatal. The most important self-help measure is an early clarification of the disease by the doctor. At the same time, acquaintances and friends should be informed, since support is needed quickly in everyday life due to the rapid progression.
With certain forms of TSE, general measures such as exercise and a healthy diet and compliance with medical requirements can lead to a normal life, at least in the short term. The doctor suggests other measures that can be used to delay the progression of the disease.
Finally, the most important self-help measure is gathering information about the disease. It is important to study information brochures and specialist literature in order to be as well prepared as possible for the difficult course. Those affected can contact a self-help group and find out more about the condition on the Internet. You also need the support of friends. Conversations with the doctor and friends, but also with other people affected, can allay the fears. Then the acceptance of the deadly disease is often easier.