Alzheimer Disease

Alzheimer disease is a progressive brain disorder and the leading cause of dementia worldwide. It slowly erases memory, thinking ability, language, and behaviour, deeply affecting both patients and their families. The disease is linked to changes in the brain, including the buildup of amyloid plaques and neurofibrillary tangles, which damage and kill brain cells. Though the exact cause remains unclear, the effects are devastating—leading to loss of independence and, eventually, death. 

Understanding Alzheimer, from its causes and symptoms to diagnosis and care, is vital for offering proper support. This guide provides an in-depth look at the disease, risk factors, diagnosis, treatment options, common myths, and ways to support those affected.

Alzheimer disease is a progressive brain disorder that gradually destroys memory and thinking skills, and eventually the ability to carry out the simplest tasks. It is the most common cause of dementia, a general term for a decline in mental ability severe enough to interfere with daily life. The disease is characterised by specific pathological changes in the brain, primarily the accumulation of two types of abnormal protein structures:

• Amyloid Plaques: These are sticky clumps of a protein called beta-amyloid that build up between nerve cells (neurons) in the brain. These plaques are thought to disrupt cell communication and contribute to neuronal damage.
• Neurofibrillary Tangles: These are twisted fibres of another protein called tau that accumulate inside neurons. In healthy neurons, tau helps to stabilise microtubules, which are essential for transporting nutrients and other molecules within the cell. In Alzheimer, tau becomes abnormal and forms tangles, disrupting this transport system and leading to cell death.

The damage caused by these plaques and tangles initially occurs in areas of the brain involved in memory, such as the hippocampus. As the disease progresses, the damage spreads to other parts of the brain, affecting language, reasoning, judgment, behaviour, and ultimately, all essential functions. The progression of Alzheimer disease is gradual and can vary significantly from person to person, but it inevitably leads to increasing cognitive decline and functional impairment.

While the underlying pathology of amyloid plaques and neurofibrillary tangles is characteristic of Alzheimer disease, there are some classifications based on the age of onset and genetic factors:

• Late-Onset Alzheimer Disease: This is the most common form, with symptoms typically appearing after the age of 65. The exact cause is not fully understood but is likely a combination of genetic, environmental, and lifestyle factors. The APOE (apolipoprotein E) gene is the most well-known risk gene for late-onset Alzheimer, with the APOE ε4 allele increasing the risk.
• Early-Onset Alzheimer Disease: This rarer form occurs in people younger than 65, sometimes as early as their 30s, 40s, or 50s. It is often associated with specific genetic mutations in genes such as APP (amyloid precursor protein), PSEN1 (presenilin 1), and PSEN2 (presenilin 2). These mutations directly affect the production or processing of amyloid beta protein.
• Familial Alzheimer Disease (FAD): This is a rare, inherited form of early-onset Alzheimer disease caused by the aforementioned genetic mutations. Individuals with FAD have a high likelihood of developing the disease, often at a relatively young age, and it tends to run strongly in families.
• Sporadic Alzheimer Disease: This refers to the majority of Alzheimer cases, where there is no clear family history of the disease. While genetics may still play a role in increasing susceptibility, specific causative gene mutations are not identified.

The exact cause of Alzheimer disease is not fully understood, but scientists believe it arises from a complex interplay of genetic, environmental, and lifestyle factors over time. The primary pathological hallmarks in the brain are the accumulation of amyloid plaques and neurofibrillary tangles, but the precise mechanisms that trigger these changes are still being investigated. Key areas of research include:

Amyloid Beta Protein: This protein fragment is cleaved from a larger protein called amyloid precursor protein (APP). In Alzheimer, these fragments clump together to form plaques. Research is focused on understanding why this aggregation occurs and how it damages neurons.

Tau Protein: This protein normally stabilises microtubules within neurons. In Alzheimer, tau becomes hyperphosphorylated (has too many phosphate groups attached), causing it to detach from microtubules and form tangles. This disrupts the neuron's transport system and leads to cell death.

Genetic Factors: As mentioned earlier, specific gene mutations (APP, PSEN1, PSEN2) are a direct cause of rare, early-onset familial Alzheimer. For late-onset Alzheimer, the APOE ε4 gene variant is a significant risk factor, although it does not guarantee the development of the disease. Other genes are also being studied for their potential role in increasing or decreasing risk.

Inflammation: Chronic inflammation in the brain is increasingly recognised as a potential contributor to Alzheimer. Microglia, the brain's immune cells, become activated in response to amyloid plaques and tangles, and this inflammatory response may inadvertently damage neurons.

Vascular Factors: Evidence suggests that conditions affecting blood vessels, such as high blood pressure, heart disease, and stroke, may increase the risk of Alzheimer. Good vascular health is important for maintaining a healthy brain.

Lifestyle and Environmental Factors: Research is ongoing to explore the potential role of factors like diet, exercise, exposure to toxins, and educational attainment in Alzheimer risk.

Alzheimer symptoms develop gradually and can vary between individuals. In the early stages, cognitive functions like memory and language are mainly affected, but over time, other areas are impacted too.

Common symptoms include:

• Memory loss: Trouble recalling recent events or conversations, which worsens over time.
• Language issues: Difficulty finding words, understanding speech, or repeating thoughts.
• Visual-spatial problems: Trouble judging distances or getting lost in familiar places.
• Poor judgment and reasoning: Making unwise decisions or struggling with problem-solving.
• Abstract thinking difficulties: Challenges understanding time, money, or numbers.
• Disorientation: Confusion about dates, time, or location.
• Misplacing items: Putting things in odd places and not recalling where.
• Behavioural changes: Irritability, depression, anxiety, wandering, or sleep issues.
• Apathy: Loss of interest in social or daily activities.
• Task difficulty: Trouble doing everyday things like cooking or dressing.
• Repetitive actions: Asking the same questions or repeating behaviour
   

Symptoms typically progress through mild (early), moderate (middle), and severe (late) stages. While early signs may resemble normal ageing, the condition eventually leads to major disruptions in daily life and requires increasing levels of care.

Diagnosing Alzheimer disease involves a thorough evaluation to detect typical cognitive changes, rule out other conditions, and identify signs of brain changes linked to the disease.

The diagnostic process usually includes:

• Medical history & physical exam: Doctors review symptoms, family and medical history, medications, and perform a general health check.
• Neurological exam: Tests reflexes, muscle tone, coordination, senses, and mental functioning.
• Cognitive tests: Assess memory, attention, language, problem-solving, and spatial awareness to understand the pattern and extent of decline.
• Brain imaging:
  
  • MRI or CT scans rule out other conditions like tumours or strokes and may show brain shrinkage in areas like the hippocampus.
  • PET scans assess brain activity and may detect amyloid plaques or tau tangles—markers of Alzheimer—though these are more common in research or advanced diagnostic centres.
• Lab tests: Blood tests help rule out other causes of memory issues such as thyroid issues or vitamin deficiencies.
• CSF analysis: A spinal tap may check for amyloid and tau protein levels in the fluid around the brain and spine, aiding diagnosis.
• Genetic testing: May be offered in early-onset cases or strong family history. Testing for the APOE ε4 gene can assess risk but doesn’t confirm diagnosis.

Currently, there is no cure for Alzheimer disease. Treatments focus on managing symptoms and slowing cognitive decline through both medications and supportive therapies.

Medications:

• Cholinesterase inhibitors (donepezil, rivastigmine, galantamine) help improve memory by preventing the breakdown of acetylcholine, useful in mild to moderate stages.
• NMDA receptor antagonist (memantine) is used in moderate to severe Alzheimer to regulate glutamate activity and ease cognitive and behavioural symptoms.
• Emerging therapies (like aducanumab, lecanemab) target amyloid plaques in the brain but are still under evaluation for long-term safety and effectiveness.
• Supplements like Strocit support cognitive enhancement and brain health. 
   

Non-pharmacological approaches are essential to manage behaviours and improve quality of life:

• Cognitive rehabilitation helps maintain mental skills.
• Behavioural therapies address agitation, anxiety, and wandering by modifying triggers and environments.
• Occupational therapy supports independence in daily tasks.
• Speech therapy assists with communication and swallowing.
• Physical therapy maintains strength and mobility.
• Creative therapies such as music, art, and pet therapy improve emotional well-being.
• Creating a safe, supportive environment with clear routines and safety measures reduces risks.
• Caregiver support is vital, providing education and emotional help to sustain effective care.

The exact cause of Alzheimer is unknown, but several factors can increase the risk:

• Age: Risk doubles every five years after 65.
• Family History: Having close relatives with Alzheimer increases risk, especially for early-onset types.
• Genetics: Certain gene mutations cause rare familial Alzheimer; the APOE ε4 gene raises risk for late-onset.
• Down Syndrome: Extra chromosome 21 increases early-onset risk.
• Head Injury: Significant brain trauma may raise risk.
• Cardiovascular Health: High blood pressure, cholesterol, heart disease, and stroke are linked to higher risk.
• Diabetes: Poor control may increase risk.
• Obesity: Midlife overweight is associated with higher risk.
• Smoking: Current or past smoking increases risk.
• Physical Inactivity: Sedentary lifestyle adds to risk.
• Lower Education: Less education may mean lower cognitive reserve.
• Mild Cognitive Impairment (MCI): Especially memory-related MCI raises risk of progressing to Alzheimer.

As Alzheimer progresses, it leads to serious issues including:

• Severe memory loss, inability to recognise loved ones
• Loss of speech and communication
• Complete dependence on others for daily care
• Mobility problems causing falls and injuries
• Loss of bladder and bowel control
• Behavioural problems like agitation and wandering
• Increased risk of infections, especially pneumonia
• Pressure sores from immobility
• Weight loss due to eating and swallowing difficulties

Living well with Alzheimer involves practical strategies for patients and caregivers:

• Establish routines: Predictable daily schedules reduce confusion
• Simplify tasks: Break activities into small, manageable steps
• Use clear communication: Speak slowly with simple words and short sentences
• Provide visual cues: Labels, pictures, and gestures help understanding
• Create a safe home: Remove hazards and use good lighting to prevent falls or wandering
• Focus on strengths: Encourage enjoyable activities the person can still do
• Maintain social contact: Support regular interaction with family and friends
• Manage behaviours: Identify and avoid triggers of agitation; use calm environments or distractions
• Prioritise comfort: Attend to physical needs and offer reassurance
• Support caregivers: Seek out groups, respite care, and professional help to manage caregiving stress
• Cherish positive moments: Celebrate connection and understanding whenever possible

Myth: Alzheimer is just normal ageing. 

While some memory changes are normal with age, Alzheimer is a distinct disease process with significant brain changes and progressive cognitive decline that goes far beyond typical age-related forgetfulness.

Myth: Only memory is affected in Alzheimer. 

Alzheimer affects various cognitive abilities, including language, reasoning, judgment, visuospatial skills, and behaviour.

Myth: People with Alzheimer are no longer aware of their surroundings or feelings. 

While awareness may fluctuate, individuals with Alzheimer often retain emotional capacity and can respond to kindness and comfort.

It is important to see a doctor if you or someone you know experiences persistent or worsening problems with memory, thinking, language, or behaviour that are interfering with daily life. Early diagnosis allows for access to available treatments, support services, and the opportunity to plan for the future. Seek medical advice if you notice:

• Memory loss that disrupts daily life.
• Challenges in planning or solving problems.
• Difficulty completing familiar tasks at home, at work, or at leisure.
• Confusion with time or place.
• Trouble understanding visual images and spatial relationships.
• New problems with words in speaking or writing.
• Misplacing things and losing the ability to retrace steps.
• Decreased or poor judgment.
• Withdrawal from work or social activities.
• Changes in mood and personality.

• What are the likely causes of my/their symptoms?
• What tests will be done to diagnose Alzheimer disease?
• What stage of Alzheimer disease is it?
• What are the available treatment options, including medications and non-pharmacological approaches?
• What are the potential benefits and risks of these treatments?
• How will the disease likely progress?
• What lifestyle adjustments might be helpful?

• Be Patient and Understanding: Remember that their actions and words are influenced by the disease.
• Communicate Clearly and Simply: Use short sentences, speak slowly, and maintain eye contact.
• Validate Their Reality: Avoid correcting them constantly if they are confused about time or place. Instead, try to understand their perspective.
• Create a Safe and Familiar Environment: Minimise changes and potential hazards.
• Encourage Independence: Support them in doing what they can for themselves.
• Engage in Meaningful Activities: Adapt hobbies and interests to their abilities.
• Provide Routine and Structure: Predictable schedules can reduce anxiety.

Alzheimer disease is a complex and life-altering condition that affects millions of individuals and families around the world. While there is no known cure yet, ongoing research continues to bring hope for better treatments and, ultimately, prevention. Recognising early signs, getting a timely diagnosis, and accessing the right care can make a significant difference in managing the disease and maintaining dignity and independence for as long as possible.

If you or someone you love is facing Alzheimer, know that you are not alone. With compassion, support, and informed care, it’s possible to navigate the challenges and still find moments of connection, joy, and meaning.