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Alzheimer's Disease, Genetic Testing

Alzheimer's disease is a neurodegenerative disorder characterized by progressive cognitive decline, memory loss, and behavioral changes. It is the most common cause of dementia in older adults, and there is currently no cure. Treatment aims to manage symptoms and improve the quality of life of affected individuals. The assessment of the Polygenic Risk Score for Alzheimer's disease is based on the examination of 38 gene polymorphisms.

Genetic testing for Alzheimer's disease is included along with 15 other diseases in the Genetic Screening for Diseases of the Nervous System, Polygenic Risk Score.

Causes and non-genetic risk factors

The exact causes of Alzheimer's disease are unknown, although research has shown the presence of neuronal damage, with loss of connections and cell death.

The development of Alzheimer's disease appears to be triggered by a combination of genetic and environmental factors that affect the brain over time. There are also cases of familial Alzheimer's disease caused by point mutations, but they make up less than 1% of the total. Among the most crucial risk factors stand out the following:

  • Age: this is the most important risk factor, with a significant increase in cases after age 65.
  • Family history: the risk of developing Alzheimer's disease increases if a first-degree relative is affected. The APOE4 gene is the most studied.
  • Down syndrome. Many people with Down syndrome develop Alzheimer's disease in adulthood, possibly due to the presence of three copies of chromosome 21.
  • The incidence is slightly higher in women than in men.
  • Presence of mild cognitive impairment.
  • Head trauma.
  • Cardiovascular diseases.
     
Symptoms

The lesion begins years before the onset of symptoms. However, early diagnosis is essential for an excellent therapeutic approach. The most common signs and symptoms of Alzheimer's dementia are:

  • Memory impairment, especially short-term memory.
  • Difficulty concentrating, planning, or solving problems.
  • Inability to draw or copy images.
  • Problems completing routine tasks.
  • Visual or spatial difficulties can lead sufferers to place things incorrectly or get lost.
  • Language problems.
  • Changes in mood, behavior, and personality.
  • In advanced stages, motor function and regulation of internal organs may be affected.
     
Prevention

The mechanisms that allow complete prevention of Alzheimer's disease are not known at this time. However, there is strong evidence that several factors associated with a healthy lifestyle can reduce the risk of developing Alzheimer's disease and other types of dementia.

Studies so far show that regular exercise, a healthy diet, and maintaining brain activity through lifelong learning protect against Alzheimer's disease.

In addition, controlling blood pressure and blood glucose levels and avoiding alcohol and tobacco consumption also appear to have the effect of reducing the risk of dementia.

Additional information
Results Time4 - 5 Weeks
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