Categories: Neuroscience

Alzheimer’s disease: Is it always hereditary? Is there a cure?

What is Alzheimer’s disease? Who is affected?

Alzheimer’s disease is a progressive and irreversible neurodegenerative disease. Over a period of time, brain damage causes a worsening or slow decline of the human skills pertaining to memory, thinking and behavior. About 60 to 70% of patients experience dementia. Dementia is a group of social and behavioral changes that often arises as a result of brain injuries or diseases. These changes interfere with an individual’s ability to carry out daily living activities.

Alzheimer’s disease is mostly a disease of elderly, seen in adults above the age of 65 years, however, sometimes, it may also affect individuals below 65 years of age.

What are the types of Alzheimer’s disease?

Since Alzheimer’s disease is a progressive form of dementia, it takes years before an individual begins to show any symptoms of it. Thus, depending on the time when the signs and symptoms are visible, there are two type of Alzheimer’s disease;

  • Early-onset Alzheimer’s disease: The symptoms appear in people between the ages of 40 to 50 years. Even though the cause of early-onset Alzheimer is not known exactly, however it is said to be often related to the individual’s family history. If the parents or grandparents developed Alzheimer’s disease at a young age, the individual is more likely to develop it early too. Early-onset Alzheimer’s disease is linked to three genes namely APP, PSEN1 and PSEN2. A defect in any one of these genes increases the risk of Alzheimer’s disease before the age of 65 years.
  • Late-onset Alzheimer’s disease: It may take decades or more to develop symptoms in late-onset Alzheimer’s disease that usually are visible after the age of 65 years. The most common gene associated with late-onset Alzheimer’s disease is apolipoprotein E (APOE). There are three forms of APOE; APOE e2, APOE e3 and APOE e4. It is found that APOE e4 is related to the development of Alzheimer’s disease. This gene is usually inherited from the parents, therefore, if the gene is inherited from one of the parents, the risk of developing Alzheimer’s disease is high and if inherited from both the parents, the risk is higher.

What are the causes of Alzheimer’s disease? Is it always hereditary?

Abnormal beta amyloid plaques are hallmarks of Alzheimer’s disease

Even though scientists are continuously working on it, the exact causes of Alzheimer’s disease are not known. While there are hereditary components strongly related to Alzheimer’s disease, they may not be always the cause.  Some of the other common underlying causes attributed to the disease include;

  • Age: Older adults are more vulnerable to Alzheimer’s disease. In 2010, more than 4 million individuals above the age of 65 years were diagnosed with Alzheimer’s disease.
  • Gender: Studies have shown that women have a longer lifespan than men, therefore; they are more likely to develop Alzheimer’s disease than men.
  • Genetic mutations: There are genetic components (such as APP, PSEN1, PSEN2) likely to cause early-onset of the disease, however, researches are still studying the actual development of the disease. Any mutation in one of the genes is found to be associated with Alzheimer’s disease. In late-onset Alzheimer’s disease, APOE e4, inherited from parents or grandparents, is the main gene responsible for the development of Alzheimer’s disease.
  • Insufficient sleep: Lack of sleep leads to an increased level of beta-amyloid in the brain which causes the formation of hard plaques, which is the key factor to the development of Alzheimer’s disease. However, it is not clear if insufficient sleep leads to Alzheimer’s disease or Alzheimer’s disease is the reason for insufficient sleep.
  • Brain activity: The levels of brain activity and energy consumption are related to the beta-amyloid deposits and hard plaques that increase the risk of developing Alzheimer’s disease.
  • Lifestyle and heart status: A healthy heart is closely related to a healthy brain. Older adults with heart diseases have a higher risk of developing Alzheimer’s disease.
  • Mild cognitive impairment: There is a higher risk of developing Alzheimer’s disease if a person had mild cognitive impairment, although the reason is still under research.
  • Traumatic brain injury: After a traumatic brain injury, the brain creates a large amount of beta-amyloid protein that leads to the formation of hard plaques in the brain that are hallmarks of Alzheimer’s disease.

What are the signs & symptoms of Alzheimer’s disease?

Early signs and symptoms of Alzheimer’s disease vary from person to person. Initially, you may forget events and incidents with mild confusion. But with time Alzheimer’s disease worsens to frequent memory loss of most recent events, in spite of regular reminders. Difficulty in conversation and judgment is also observed in patients with Alzheimer’s disease. The most common signs include;

  • Behavioral changes: The personality and behavior of an individual with the disease may change abnormally and they may experience;
    • Apathy
    • Aggressiveness
    • Change in sleep habits
    • Depression
    • Delusions
    • Distrust in others
    • Irritability
    • Loss of inhibitions
    • Mood swings
    • Social withdrawal
    • Wandering
    • Concentration and reasoning: Patients lose the power to concentrate and think especially numeric. They experience difficulty in performing transactions; they are also frequently confused in various situations.
    • Decision making and judgment: Individuals with Alzheimer’s disease may experience difficulty in decision making. Patients would always think that they are right even when it is evident that he/she is wrong.
    • Language: Patients with Alzheimer’s disease have a problem in communicating as they are confused with the language used.

Alzheimer’s causes a person to lose track of time and forget appointments

  • Memory loss: Memory loss related to Alzheimer’s disease worsens and persists, affecting daily activities, such as;
    • Repeat questions or conversations, not realizing that they have asked the question earlier
    • Forget planned events or appointments, and fail to recollect later even after a reminder
    • Lose themselves in familiar places
    • Eventually, forget their family members
    • Inability to perform routine activities such as cooking, they eventually forget to perform basic activities such as bathing and dressing.
    • Uncontrolled bowel or urination: A patient with Alzheimer’s disease may lose control over bowel or bladder movements resulting in involuntary urination.

What are the stages of Alzheimer’s disease?

The stages of Alzheimer’s disease would differ based on the severity of the disease. For diagnostic purposes, the progress of Alzheimer’s disease is 5 stages:

  • Pre-clinical Alzheimer’s disease: At this stage, one may not realize if the disease is starting to develop as the symptoms are not very evident. However, if the family has a history of Alzheimer’s disease then one may undergo precautionary imaging examinations that can identify if any deposits of beta-amyloid protein are observed in the brain.
  • Mild cognitive impairment (MCI) due to Alzheimer’s disease: In this stage, an individual may show mild symptoms of thinking, judgment and memory loss of scheduled events and activities. However, it does not affect the normal daily activities. Similar to the pre-clinical stage, precautionary imaging can be done in this stage to confirm the onset/presence of Alzheimer’s disease.
  • Mild dementia due to Alzheimer’s disease: This stage is often the diagnostic stage for the presence of Alzheimer’s disease. The individual faces a problem in remembering events and decision-making, they often get lost at familiar places.
  • Moderate dementia due to Alzheimer’s disease: At this stage, the person becomes more confused and increasingly forgetful. Daily normal activities are disturbed wherein the person needs external help in getting the normal daily activities done. The behavior of the person starts to show certain behavioral changes such as apathy, depression, delusions and distrust in others.
  • Severe dementia due to Alzheimer’s disease: This is the advanced stage of Alzheimer’s disease. Here, the plaque formation and tangles are at the maximum and the brain is in a deformed condition. As a result of these changes mental and physical capabilities decrease, the ability to converse decline drastically and the individual is unable to understand when others speak. The person cannot perform any basic activities such as bathing, putting on clothes and is entirely dependent on others.

How do neurologists diagnose Alzheimer’s disease?

Your doctor can make a diagnosis of Alzheimer’s disease on the basis of medical and family history followed by a physical examination. Some of the tests performed commonly to arrive at the diagnosis of Alzheimer’s disease are:

  • Physical examination to assess functions like gait, eyesight etc.
  • Blood tests: To rule out or differentiate other causes of memory loss such as deficiency of vitamins or thyroid disorders.
  • Mental status test: To assess memory and thinking skills
  • Imaging: Modern imaging technology can detect the formation of beta-amyloid protein plaques and tangles of tau protein, which are hallmarks of Alzheimer’s disease. Few imaging procedures include;
    • Magnetic resonance imaging (MRI)
    • Computerized tomography (CT) scan
    • Positron emission tomography (PET) scan
    • Testing cerebrospinal fluid (fluid of the brain) for biomarkers indicating the likelihood of Alzheimer’s disease

Brain imaging for diagnosing Alzheimer’s disease

How is Alzheimer’s disease treated?

Although research and studies are still going on for definitive treatment of Alzheimer’s disease, till date the disease is managed symptomatically. Other than medications, supportive services are adapted to improve the behavior, sleep, memory and minimize the occurrence of cardiovascular diseases.

Medicines for:

  • Enhancing cognitive skills
  • Improving mental functions
  • Lowering blood pressure
  • Balancing mood & behavior when non-drug approaches fail
  • Improving sleep when non-drug approaches fail

Supportive treatments include;

  • Regular daily exercise
  • Healthy nutrition
  • Support for daily activities
  • Monitor and anticipate needs in patients having difficulty with communication
  • Create a safe and protective environment

What are the complications of Alzheimer’s disease?

It is important to identify the symptoms and diagnose Alzheimer’s disease early for managing the cognitive health of the individual better and to slow down the progression of the disease. Some of the commonly seen complications that are related to the diminishing brain functions include:

  • Communication problems
  • Fall and fractures due to inability to balance oneself
  • Inability to swallow the food that may lead to malnutrition or intake of food and liquid to the lungs causing lung infection (eg. Pneumonia)
  • Physical activities such as bowel and bladder control are affected

What are the preventive measures for Alzheimer’s disease?

Even though there is no confirmatory evidence to prove that Alzheimer’s disease can be prevented, it is suggested that Alzheimer’s disease may be delayed if lifestyle modifications are followed. Therefore, factors which help in the prevention of diseases like heart disorders may also help in reducing the risk of Alzheimer’s disease. Some of these measures include;

  • Daily and regular exercise
  • Healthy diet: Fresh produce, healthy oil and food low in saturated fats

In case a family has a history of Alzheimer’s disease, the members of the family need brain imaging tests such as MRI & CT scan to confirm if any plaques or tangles are formed in the brain.

What are the recommended lifestyle changes and precautions for patients with Alzheimer’s disease?

In order to improve the well-being of an Alzheimer patient, the lifestyle of a person with Alzheimer’s disease should involve;

  • Avoiding high-fat diet and including fresh fruits and vegetables
  • Being socially active and be a part of any group so as to keep yourself active physically and mentally
  • Involving in brainstorming activities
  • Regular and daily exercises, especially cardiovascular exercise

What care should family members take?

Taking care of an Alzheimer patient is challenging and demanding, both emotionally and physically. Few things to do for yourself and the patient can help both;

  • Call your friends or family for help
  • Keep yourself socially active
  • Stay healthy by eating healthy and getting a regular check-up for yourself
  • Spend some time with friends
  • Taking breaks to avoid burnout
Conclusion:

Alzheimer’s disease is a progressive disease that affects the self-reliance and quality of life of the patient. While, dementia is a major symptom, behavioral and cognitive changes are also part of the disease. Millions of family struggle with the challenges due to Alzheimer’s disease. Neurologists and scientists are trying to better understand the course of the disease and looking for a cure. Patients and caregivers should be aware of the manifestations of the disease and take necessary preventive and supportive measures to delay the progress and manage the symptoms well.

Were we able to address your queries about Alzheimer’s disease?

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References:
  • Causes of Alzheimer’s: Is it hereditary? Available at: https://www.healthline.com/health/alzheimers-hereditary. Accessed on 02 October 2018.
  • National Institute on Aging. Alzheimer’s disease fact sheet Available at: https://www.nia.nih.gov/health/alzheimers-disease-fact-sheet#support. Accessed on 02 October 2018.
  • Alzheimer’s disease. Available at: https://www.mayoclinic.org/diseases-conditions/alzheimers-disease/diagnosis-treatment/drc-20350453. Accessed on 02 October 2018.
  • Alzheimer’s stages: How the disease progresses. Available at: https://www.mayoclinic.org/diseases-conditions/alzheimers-disease/in-depth/alzheimers-stages/art-20048448.  Accessed on 02 October 2018.
Yashoda Hopsitals

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