28 diseases - Alzheimer's disease

DNA test for genetic predisposition to Alzheimer’s disease

Alzheimer's disease is a serious disorder of the central nervous system mainly affecting the elderly. Statistics show that over 5% of people aged 65–80 suffer from this condition worldwide.

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The main symptom of
Alzheimer's disease

is a progressive intellectual impairment culminating in profound dementia. The morphological basis of the illness lies in degenerative changes in the neurons of the brain. The pathological process develops gradually, but the rate of progress can vary widely: there can be from 4 to 10-15 years between diagnosis and full dementia.

Causes of Alzheimer’s disease

Despite actively studying the problem of Alzheimer's disease, scientists cannot say precisely what causes its onset. Age-related changes in the metabolism and nerve tissue function, specifically related to structural damage to the cell membranes, play a part in the etiology of the disease. In healthy people, however, age-related intellectual impairment usually manifests itself mildly and does not interfere with independent living. The illness develops when the following risk factors are present:

hereditary predisposition;
arterial sclerosis;
intense stress;
serious illness;
excess sugar consumption;
Chronic aluminum intoxication.

Genetic predisposition has been identified as the main risk factor for Alzheimer's, all others being merely accompanying factors triggering the onset of the degenerative process and exacerbating it as it proceeds.

hereditary predisposition;
arterial sclerosis;
intense stress;
serious illness;
excess sugar consumption;
Chronic aluminum intoxication.
Genetic predisposition to Alzheimer’s disease

The genes that code for a hereditary predisposition to Alzheimer's are on chromosomes 1, 14 and 21. These genes determine a number of signs, including the activity of the enzyme secretase, which has a role in the formation of a particular protein, beta-amyloid.

Beta-amyloid has no toxic effect and is biologically neutral, but in high concentrations it has the property of accumulating in the brain tissues in the form of senile plaques.

Accumulations of beta-amyloid suppress the function of nerve cells and disrupt their structure. The cerebral cortex atrophies, causing a pronounced deterioration of higher nervous activity.

Although the formation of amyloid plaques is only a generally accepted theory of the development of Alzheimer's disease, the significance of a genetic predisposition to the illness is demonstrated by reliable statistical data.

Types of the disease
Two main types of Alzheimer's disease are distinguished:
early (pre-senile), with onset before the age of 55;
Late (senile).

The early form is very rarely encountered. Its clinical picture is practically indistinguishable from that of the classic, senile form of Alzheimer's disease.

Alzheimer’s disease: symptoms and signs

Alzheimer's disease manifests itself by a whole raft of symptoms caused by deterioration of the cerebral cortex and, in the late stages, of the subcortical areas too.

1
Memory loss

A typical feature of memory impairment in Alzheimer's is that it begins with difficulty in remembering recent events, while the patient may remember information from the distant past in minute detail. It is only after several years that a loss of long-term memory also becomes apparent, reaching the stage where one forgets one's own name, basic words and even one's reflection in the mirror (one of the very late-stage symptoms). The same sequence of memory impairment is characteristic of age-related changes in healthy people, too, but Alzheimer's disease is distinguished by the following features:

  • The impairment develops more rapidly;
  • Accompanying impairment of self-control and self-discipline;
  • The absence of conscious attempts to compensate for memory loss.

Progressive memory impairment often leads to what is known as living in the past. The Alzheimer’s patient seems to travel decades into the past; he is convinced that he is young and active, with young children and a young, pretty wife, while being unable to explain why he is in the hospital or why he needs a doctor.

2
Impairment of integrative functions

Along with memory, the ability to analyze what is going on and to critically evaluate one's condition gradually deteriorates. The person becomes absent-minded and cannot focus attention on one thing. Visual, auditory and tactile sensations are dulled, and the patient stops integrating them into a single whole.

3
Disruption of written and spoken communication

Speech becomes impoverished, and words are used inappropriately. The patient has difficulty finding the right expressions and cannot remember words. Logoclonia – the repetition of the same syllable in a word – is often observed.

The deterioration of written communication begins with disturbance of the flow of writing: lines dance about, words may be distributed chaotically in different directions and at different heights. As the Alzheimer's disease progresses, writing becomes completely impossible.

4
Impairment of number ability

Difficulty with numbers starts with the hard things: division and multiplication. Gradually, the patient becomes unable to carry out even the simplest calculations and cannot understand the magnitudes of numbers or how they relate to each other.

5
Loss of skills

Memory impairment affects motor skills as well. The patient "forgets" how to cook, wash clothes, make the bed, mop the floor and get dressed. In the late stages, the patient needs outside help almost round the clock: he no longer remembers how to walk, sit on a chair, or pick up a spoon.

6
Emotional disorders

A characteristic feature of Alzheimer's disease is an impoverishment of the emotions to the point of emotional stupor. Nothing moves the patient: even in an emotionally charged situation he may spend hours aloofly staring at one point.

7
Psychotic disorders

Elements of delirium and hallucinations are observed in many Alzheimer's patients, but they are always fragmentary and never systematic. Fits of agitation with weeping, aggression and spite are typical.

8
Apathy

Apathy is a major sign of depressive disorder in Alzheimer's disease. Patients almost never complain of sadness, alarm or impaired mood, but relatives notice the loss of interests, lowered mood background, passivity, fatigue and low self-esteem.

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The stages of Alzheimer’s disease
The stages of the disease are arbitrarily defined and do not have clear boundaries.
1 — Predementia:

characterized by mild intellectual impairment, usually ascribed to ordinary age-related changes. Memory is moderately impaired: the person cannot absorb new information, has difficulty organizing his day and planning his time, and his attention suffers. A common additional symptom is a mild depressive disorder with apathy.

2 — Early dementia:

manifests itself in a reduced vocabulary, slow conversation, and progressively worse memory when learning new information. Information about the patient’s past, and facts and skills learned long ago, remain intact.

3 — Moderate dementia:

the patient forgets more and more words and confuses them, making speech less and less intelligible. Reading and writing are affected. The first signs of long-term memory loss appear, with the person becoming unable to recognize objects or what they are for. Behavioral disorders are observed, with fits of aggression, unprovoked weeping, wandering, and delusional ideas.

4 — Severe dementia:

speech is gradually lost, but simple forms of contact with others (visual, emotional, mimetic) remain for some time. The patient does not look after himself and needs constant supervision and assistance in carrying out elementary tasks. In the terminal stage, the patient stops walking and can no longer chew or swallow food.

Diagnosing Alzheimer’s disease

To make a correct diagnosis, the specialist collects the case history, interviewing both the patient and his closest relatives. An objective measure of intellectual impairment is obtained by carrying out an MMSE test – an evaluation of mental state using a short scale. The test result shows only the degree of intellectual impairment, not the type of the disease.

To make a differential diagnosis of Alzheimer's, a battery of additional tests is carried out, perhaps including

laboratory analyses, x-rays, CT and MRI. This examination is designed to identify other diseases accompanied by memory and intellectual impairment: brain tumors, endocrine disorders, toxic encephalopathy etc. Positron emission tomography of the brain with the preliminary introduction of a special contrast agent allows identification of the amyloid plaques that characterize the disease.

Alzheimer’s disease: treatment and prospects

Until quite recently it was thought that treating Alzheimer's disease yielded no positive results. However, modern medical science and pharmacology, while unable to cure the disease, do make it possible to delay the progress of dementia and to improve the patient's quality of life. The effectiveness of the treatment depends directly on how promptly it is begun: the earlier drug and behavioral therapy is started, the better the chance of maintaining the patient's faculties at the right level.


1
Compensation therapy

It has been established that Alzheimer's disease is accompanied by a reduced concentration of acetylcholine and serotonin, important neurotransmitters with a role in the transmission of nerve impulses. To make up for the shortage of these substances, Ipidacrine, Exelon or Prozac – special preparations that block the action of the enzymes that destroy neurotransmitters – are used.

One of the most effective preparations in the treatment of the disease is Akatinol Memantine. This improves nerve transmission and the interconnection between different regions of the brain. Clinical studies have shown that the use of Memantine in Alzheimer's patients improves memory and independence, normalizes mood and increases productive activity.

2
Protective therapy

To protect the neurons from harmful external factors and amyloid plaques, nootropics or smart drugs are prescribed. Many specialists regard cerebrolysin as the most effective nootropic for Alzheimer’s. This preparation is given by injection in courses lasting 10-15 days.

3
Anti-inflammatory therapy

Clinical observations show that dementia progresses more slowly in patients who have taken anti-inflammatory drugs for long periods. This fact has not yet been clearly explained, but it can be made use of in treatment nevertheless. The treatment of Alzheimer's disease uses Indometacin, which is prescribed for several months to slow down intellectual impairment.

4
Symptomatic therapy

Depressive disorders in Alzheimer's disease require prompt treatment. As well as relieving the patient's subjective condition, this helps raise motivation and activity, which is important in itself for "training" the intellectual functions.

Fits of spiteful and aggressive behavior require prescription of soothing antipsychotic drugs and tranquillizers. Treatment is carried out strictly according to indications under the supervision of a physician.

5
Behavioral therapy

Behavioral therapy programs are designed to train the mental and intellectual functions. This is done by means of special activities designed to make intensive use of the unimpaired functions of the cerebral cortex. Behavioral therapy is not a specific treatment method; it is used with all forms of dementia.

Prevention

There is no specific prophylaxis for Alzheimer's disease.

To protect nerve cells from negative external factors, it is important:


to avoid harmful habits;
to avoid harmful habits;
to eat properly.

Specialists recommend leading an active life: constantly training the memory, studying foreign languages, learning new skills, engaging in activities associated with enhanced concentration and moderate stress.

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A DNA test for genetic predisposition to Alzheimer's disease is the only way to find out in advance your risk of developing the disease and draw up an optimal plan to improve your lifestyle and train your mental functions.

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