Tauopathies represent a group of neurodegenerative diseases which are caused by the accumulation of tau proteins in the brain. The best-known tauopathy is Alzheimer’s disease. So far, these degenerative diseases cannot be cured.
What is tauopathy?
Tauopathy is a collective term for several neurodegenerative diseases, all of which are associated with the development of dementia. All tauopathies are caused by the accumulation of tau proteins in the brain. Tau proteins are named after the Greek letter tau. For what does dm1 stand for, please visit ezhoushan.net.
They bind to the proteins of the cytoskeleton and thus perform supporting functions in animal and human cells. Normally, the tau proteins connect to each other via repeating sections and thus form filamentary structures in the cell. When linked, the amino terminal end of the polypeptide chain is cut off by phosphorylation.
However, if hyperphosphorylation (saturation of all binding sites with phosphate groups) takes place, a protein that is no longer functional is formed and cannot bind to the proteins of the cytoskeleton. The protein is deposited in the brain. Hyperphosphorylation is favored by certain mutations.
Six different isoforms of the tau protein are known, which can produce several forms of tauopathies if the appropriate genetic changes are made. Depending on the isoform, a tau protein can contain between 352 and 757 amino acids. The accumulation of hyperphosphorylated tau proteins in the brain can develop, among other things, Alzheimer’s disease, chronic traumatic encephalopathy (CTE or dementia pugilistica ).
Frontotemporal dementia (Pick’s disease), corticobasal degeneration, neurofibrillary tangle dementia, progressive supranuclear palsy or silver grain disease are also known to be secondary diseases. For all tauopathies there are still no prospects of a cure.
Causes
The cause of tauopathies is the deposit of tau proteins in the brain. Functional restrictions occur in the areas of the brain where these ever-growing deposits are located, which ultimately lead to the death of nerve cells and glial cells. This shrinks the brain.
It can shrink by up to 20 percent as part of Alzheimer’s disease. Over time, important structures of the brain are lost. This process is usually very slow, with tauopathy leading to death after an average of eight years from onset.
The basis of the deposits of tau proteins is their inability, as a result of hyperphosphorylation, to build up sufficient bonds to the proteins of the cytoskeleton. Hyperphosphorylation can be caused by mutations. About 60 different mutations of the tau gene were discovered, all of which lead to tauopathy.
Hyperphosphorylation is actually a normal process that serves as a signaling mechanism to trigger cell division. However, certain mutations increase hyperphosphorylation and produce, among other things, waste products of the tau protein that are no longer able to bind and are therefore non-functional. However, one form of tauopathy, chronic traumatic encephalopathy, is not genetic but is caused by frequent head injuries.
Here, too, hyperphosphorylation of tau proteins occurs. The phosphorylation here may be triggered by regulatory processes. After injuries, cell division must be stimulated to heal. However, this is stimulated by the signaling effect of phosphorylation.
Symptoms, Ailments & Signs
The main symptom of tauopathy is the development of dementia. This applies to all forms of tauopathies. The best-known example of this group of diseases is Alzheimer’s disease. The term Alzheimer’s is often equated with dementia. However, that is not correct. Dementia is just the main symptom of this condition.
All other diseases in this group of forms also develop dementia as the most important symptom. Alzheimer’s disease begins insidiously with general forgetfulness. In a further stage the patient loses the simplest practical skills such as dressing or making coffee. In the final stage, patients suffer from apathy, loss of appetite, bed confinement and incontinence. He can no longer recognize people who are close to him.
Another disease is corticobasal degeneration (CBD). In addition to dementia, this disease has symptoms similar to those of Parkinson’s. This leads to tremor, depression, anxiety, immobility, gait disorders and eye movement disorders.
In the case of Pick’s disease, behavioral problems and impairment of performance are in the foreground. Here, too, progressive dementia develops. The progressive supranuclear gaze palsy is characterized by the failure of the eye muscles and a Parkinson-like clinical picture. Silver grain disease is suspected to be a special form of Alzheimer’s disease.
Chronic traumatic encephalopathy is a tauopathy caused by external factors such as head injuries. Martial artists and boxers in particular are at risk of suffering from this disease in later years. This condition begins with headaches and difficulty concentrating.
In the further course, a disturbed short-term memory, depression and emotional outbursts are added. In a final stage, the patient suffers from severe dementia, which makes it impossible for him to cope with everyday life.
Diagnosis & course of disease
The diagnosis of tauopathies is based on the patient’s own and third-party anamnesis. In addition, several neuropsychological tests such as the clock test or the mini mental status test (MMSE) are carried out. Imaging procedures such as CT and MRI are also part of the diagnostics. The symptoms that occur indicate the type of tauopathy.
Complications
Unfortunately, tauopathy cannot be completely cured, so there is not a completely positive course of the disease in this disease. Those affected suffer from different complaints. This leads to loss of appetite and incontinence. Inner restlessness or confusion can also occur and have a very negative effect on the patient’s everyday life.
Many patients are then dependent on the help of other people in their lives and can no longer do many things in everyday life on their own. Depression or tremors also occur with tauopathy. Furthermore, most patients suffer from behavioral problems and gait disorders. A loss of coordination can also occur.
Due to the confusion, the risk of injury increases enormously, so that those affected can also lose consciousness. Patients also often suffer from headaches or concentration disorders. The symptoms of tauopathy can be limited with the help of medication.
There are no complications. However, complete healing cannot be achieved. It cannot generally be predicted whether the patient’s life expectancy will be reduced as a result of this disease.
When should you go to the doctor?
In the case of tauopathy, the person concerned is dependent on a doctor. This disease cannot heal on its own, so treatment by a doctor must be carried out in any case. Further complications and symptoms can only be prevented by correct and rapid therapy. However, a complete cure is not possible with tauopathy because it is a hereditary disease. If the person concerned wants to have children, genetic counseling should also be carried out to prevent the disease from being inherited.
A doctor should be consulted for tauopathy if the person concerned suffers from severe loss of appetite and incontinence. In many cases, depression or difficulty moving occurs. Many also show abnormal behavior with tauopathy, which should also be checked by a doctor. Severe problems with concentration or severe headaches can also indicate this disease. First and foremost, tauopathy can be diagnosed by a general practitioner or a pediatrician. Further treatment depends on the exact symptoms and is carried out by a specialist.
Treatment & Therapy
Tauopathies cannot be treated causally today. In the context of Alzheimer’s disease, various drugs are administered, among other things, which are intended to improve memory. In the case of the other tauopathies, too, symptomatic treatment methods are carried out to improve the symptoms and delay the course of the disease.
Prevention
Although most tauopathies have a genetic basis, a healthy lifestyle and regular exercise can help delay the onset and progression of the disease.
Aftercare
Taupathy cannot be cured and affects the life expectancy of those affected. Follow-up care for this disease is therefore only possible to a limited extent. Early detection is of great importance for the further course. The doctor treating you should monitor the intake and dosage of medication and the course of the disease.
Possible side effects of the medication and new symptoms can be treated more quickly. Patients are more likely to develop pneumonia. This can be counteracted by taking precautions to maintain lung health, such as regular flu shots. Since there are physical impairments, a nursing assistant is required in everyday life.
Some patients also need a wheelchair. Physical therapy can also improve or slow down the movement impairment. If possible, sporting activities in leisure time are positive for body and mind. The type of sport and intensity should be clarified with a doctor beforehand.
The physical impairments usually also lead to psychological problems such as depression. Psychological counseling and integration into family life are important for those affected. Friends also play a major role so that the patient is not alone in his situation and can cope better with it.
You can do that yourself
Tauopathies cannot be treated causally so far. It is best to contact a neurologist so that appropriate measures can be taken. Symptomatic treatment should be carried out in cooperation with a specialist.
Symptoms such as loss of appetite or being bedridden require medical treatment. Those affected are usually already so seriously ill that they can no longer act independently. All the more important is the help of the relatives, who have to ensure that the medication is taken according to the instructions and that the patient shows no other signs of illness. In order to avoid sore spots when confined to bed, the patient must regularly change position or be moved to a different position. In addition, various wound ointments from homeopathy can be used.
People close to you often need therapeutic support themselves. Especially in the last stage of the disease, those affected can no longer recognize their acquaintances, which represents an enormous psychological burden for them. Since most tauopathies are genetic, prevention is also not possible. However, a healthy lifestyle and regular mental training can delay the disease. Which measures are sensible and necessary in detail is best discussed with the responsible specialist.
