What Is Early Onset Familial Alzheimer Disease
Definition: What Is eFAD?
Early onset familial Alzheimer disease is hereditary and marked by Alzheimer disease symptoms that appear at an unusually early age. Symptoms can start in a person’s thirties, forties, and fifties . Generally, if you are diagnosed with eFAD, then one of your parents will also have had it if he or she lived long enough, and your siblings and your children may have a 50-50 chance of having inherited it. Very rarely, eFAD can make a first-time appearance in a family through a new genetic mutation.
Genetics researchers studied eFAD families to discover the three known genes that cause familial AD: amyloid precursor protein , presenilin-1 , and presenilin-2 . Of these, PS1 mutations account for most eFAD, while APP and PS2 are more rare. Having a pathogenic mutation in one of these three genes virtually guarantees that one will develop early onset Alzheimer disease. Tests can determine which gene is at fauly . There are also cases of eFAD that cannot be linked to one of these three genes. There may be additional genes waiting to be discovered, if only researchers could connect with more eFAD families.
Prognosis: Is eFAD Different from LOAD?
How Common Is Early Onset Familial Alzheimer Disease?
For practical and research purposes, doctors and scientists need defined populations for study and the numbers change based on the definitions. The definition would seem to rest on two criteria:
|Early onset sporadic||Late-onset sporadic|
Problems Writing Or Speaking
The person may also have difficulty with words and communication. They may find it hard to follow or contribute to a conversation, or they may repeat themselves. They may also have difficulty writing down their thoughts.
The person may stop in the middle of a conversation, unable to figure out what to say next. They may also struggle to find the right word or label things incorrectly.
It is not uncommon for people to occasionally struggle to find the right word. Typically, they eventually remember it and do not experience the problem frequently.
Medications To Treat The Underlying Alzheimer’s Disease Process
Aducanumab is the first disease-modifying therapy approved by the FDA to treat Alzheimers disease. The medication helps to reduce amyloid deposits in the brain and may help slow the progression of Alzheimers, although it has not yet been shown to affect clinical outcomes such as progression of cognitive decline or dementia. A doctor or specialist will likely perform tests, such as a PET scan or analysis of cerebrospinal fluid, to look for evidence of amyloid plaques and help decide if the treatment is right for the patient.
Aducanumab was approved through the FDAs Accelerated Approval Program. This process requires an additional study after approval to confirm the anticipated clinical benefit. If the follow-up trial fails to verify clinical benefit, the FDA may withdraw approval of the drug. Results of the phase 4 clinical trial for aducanumab are expected to be available by early 2030.
Several other disease-modifying medications are being tested in people with mild cognitive impairment or early Alzheimers as potential treatments.
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Clinical Manifestations Of Eoad
In general, the clinical manifestation of AD is characterized by a predominant impairment of anterograde episodic memory. This symptom is typically accompanied by a multitude of cognitive impairments in domains, such as visuospatial, language, and executive function . The combination of the aforementioned characteristics contributes to a global cognitive decline, eventually leading to a total dependent state, and death . Although this typical clinical presentation of memory-predominant phenotypes overlaps between LOAD and EOAD cases, a subset of EOAD cases show an atypical presentation of preserved episodic memory function but focal cortical symptoms relating to language, visuospatial, or executive function . In 25% of EOAD cases, there is a distinct phenotype of non-memory symptoms, in particular apraxia, visual dysfunction, fluent or non-fluent aphasia, executive dysfunction, or dyscalculia, that is seen as the disease progresses . In addition, individuals with EOAD often present with a more aggressive disease progression and a shorter relative survival time , with the rate of progression driven at least in part by the nature of the underlying causative variant . EOAD cases have a greater pathological burden compared to LOAD .
Diagnosis Of Early Onset Alzheimer Disease
“The neurologist diagnosed conversion disorder . I should not have believed that. We went to counseling sessions for a year but nothing happened.”Caregiver.
Families with eFAD tell stories of being misdiagnosed because their doctors had ruled out the possibility of AD in people who are so young , or simply did not consider it seriously. “My brother’s first symptoms were personality changes, weight gain, loss of physical coordination, and then short-term memory loss. We thought those signs would be enough for him to be diagnosed correctly given that his mother and uncle also had had early onset AD. But still it took nearly two years of neurological assessments before the doctors would give my brother his diagnosis,” an unaffected sibling said. Ironically, AD specialists say that provided the doctor is attuned to AD occurring in younger people, diagnosing eFAD can actually be easier than diagnosing LOAD. Elderly patients are more likely to have other medical conditions that can cause dementia, making diagnosis trickier. For example, cardiovascular disease and diabetes are very common in older people, and can cause symptoms that overlap with AD. In younger patients, this is less likely to be the case. A main challenge in diagnosing eFAD is to distinguish it from other types of dementia that begin in middle age, for example, frontotemporal dementias such as Pick disease.
Examining for the presence of AD symptoms Ruling out other possible causes of dementia
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Stage : Mild Dementia
At this stage, individuals may start to become socially withdrawn and show changes in personality and mood. Denial of symptoms as a defense mechanism is commonly seen in stage 4. Behaviors to look for include:
- Difficulty remembering things about one’s personal history
- Difficulty recognizing faces and people
In stage 4 dementia, individuals have no trouble recognizing familiar faces or traveling to familiar locations. However, patients in this stage will often avoid challenging situations in order to hide symptoms or prevent stress or anxiety.
Stage : Moderately Severe Dementia
When the patient begins to forget the names of their children, spouse, or primary caregivers, they are most likely entering stage 6 of dementia and will need full time care. In the sixth stage, patients are generally unaware of their surroundings, cannot recall recent events, and have skewed memories of their personal past. Caregivers and loved ones should watch for:
- Delusional behavior
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What Families Should Know About Early Onset Alzheimer’s
Back in 2015, actress Julianne Moore won a Golden Globe award for her starring role in the movie Still Alice. Her character was a woman who had developed Alzheimers disease at the early age of 50.
The film brought national attention to whats known in the medical world as Early Onset Alzheimers. Still, however, most people know very little about this early-occurring version of the disease.
Do You Have Questions About Early Onset Alzheimers?
If youre like most people, you may have a lot of questions about early onset Alzheimers.
For example, just how early can Alzheimers symptoms begin to appear? What are the symptoms? Who is at risk?
Well try to answer those questions and more below.
What is Early Onset Alzheimers?
Early onset Alzheimers produces the same symptoms as traditional cases of the disease. Technically, any diagnosis of Alzheimers disease that occurs in someone younger than 65 is classified as early onset.
Early onset typically appears in people who are in their 40s and 50s although some people in their 30s have been diagnosed with the disease.
The main difference between early onset and late-onset is that people dont expect to be on the lookout for these symptoms when theyre younger. Therefore, the signs arent always recognized as the symptoms of Alzheimers.
Early Onset Alzheimers Progresses Faster
Heredity Plays a Larger Role in Early Onset Alzheimers
Its important not to misunderstand these facts.
Symptoms Sometimes First Appear at Work
Mood Or Personality Changes
Someone with Alzheimers disease may start to experience a low mood. They may feel irritable, confused, anxious, or depressed. They may also lose interest in things they used to enjoy.
They may become frustrated with their symptoms or feel unable to understand the changes taking place. This may present as aggression or irritability toward others.
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Getting The Right Diagnosis
Getting an early-onset Alzheimers diagnosis can be difficult because doctors dont typically look for the disease in younger people.
Instead, healthcare professionals may blame symptoms on stress, menopause, depression, or other conditions.
As a result, patients grappling with confusing symptoms may not get the treatment they need.
Younger people with atypical Alzheimers face an even bigger challenge in getting an accurate diagnosis.
To understand whats causing symptoms, a doctor should conduct a thorough investigation that includes a detailed family history, physical and neurological tests, a cognitive assessment, and possibly a brain-imaging scan to rule out conditions like a stroke or brain tumor.
Physicians may also use genetic testing to help diagnose early-onset Alzheimers disease.
Difficulties In Thinking Things Through And Planning
A person may get confused more easily and find it harder to plan, make complex decisions or solve problems.
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Interventions That May Slow Memory Loss In Early Alzheimers Disease
Interventions That May Slow Memory Loss in Early Alzheimers Disease
There are many interventions that have been recently targeted in clinical research studies, aimed at preventing the onset of early Alzheimers disease.
Read more about the primary interventions for early Alzheimers and how you can implement them to prevent memory loss in your life.
People Diagnosed Before Age 65 Present Unique Care Challenges
Fewer Canadians are diagnosed with dementia before age 65 than as seniors but their needs can be just as great.
Young-onset dementia is diagnosed before age 65 and tends to be unique in many ways. Early-onset forms of adult neurodegenerative conditions such as Alzheimers, vascular and frontotemporal dementia are some of the most common causes of dementia in those younger than 65. At the time of diagnosis, people with young-onset dementia may still be working, taking care of their children and parents, and meeting financial commitments . Of all Canadians with dementia, the proportion younger than 65 is approximately 3%. Among the 2,481 patients younger than 65 hospitalized with dementia, 54% were male.
People with young-onset dementia tend to stay longer in hospital, and a higher proportion of them have extremely long hospital stays. This may be due to difficulties in finding age-appropriate services for younger patients. In addition, people with young-onset dementia tend to be physically fit, so finding appropriate home supports may take time.
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Finding A Huge Gap In Services And Supports For Younger People
âI unfortunately ran into that brick wall where I was ineligible for just about everything because of my age.â â Faye.
Most social programs and services are designed for older people with dementia. In comparison, the number of programs designed for people living with young onset dementia is sparse.
People living with young onset dementia may not find the programs intended for older adults interesting or beneficial in respect to their needs. They may not feel comfortable in a seniorsâ program. And even if they were interested and comfortable in joining a program, they might be ineligible because of their age!
We have a gap in our knowledge about young onset dementia. As a result, there simply aren’t enough information, support, financial aid and services adapted for younger people living with dementia.
However, this is changing. The Young Onset Gap Analysis Project, initiated through the National Information Support and Education Committee and the Alzheimer Society of Canada , explored the gaps of available learning and support resources for people living with young onset dementia, and sought advice and feedback from those with lived experience.
The information from this report is being used to develop new resources dedicated to education and support for people living with young onset dementia, families, caregivers and healthcare providers.
What Test Will Your Doctor Do To Diagnose Alzheimers
No single test can confirm early onset Alzheimers. Consult an experienced physician if you have a family history of early onset Alzheimers.
Theyll take a complete medical history, conduct a detailed medical and neurological exam, and review your symptoms. Some symptoms may also seem like:
- alcohol use
- medication side effects
The diagnostic process may also include magnetic resonance imaging or computed tomography scans of the brain. There may also be blood tests to rule out other disorders.
Your doctor will be able to determine if you have early onset Alzheimers after theyve ruled out other conditions.
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What Causes Younger Onset Dementia
Many different types of dementia can affect younger people. Each type has its own symptoms and is caused by a specific type of change in the brain. Some causes of early onset dementia are:
- Alzheimers disease
- problems with blood flow to the brain
- deterioration to the front part of the brain
- chronic overuse of alcohol over many years
Ways To Slow The Progression Of Early
Although there is no currently known cure for Alzheimers, there is still much you can do if you or a loved one are diagnosed at an early age. According to Dr. Gad Marshall, Associate Medical Director of Clinical Trials at the Center for Alzheimer Research and Treatment at Harvard-affiliated Brigham and Womens Hospital, healthy habits may help ward off Alzheimers. There are several actions anyone can take to slow its progression while improving quality of life.
In addition to Dr. Marshalls sensible advice, there is a range of other things you can do to prevent cognitive decline personally, socially, and medically. An encouraging study by the UCLA Mary S. Easton Center for Alzheimers Disease Research and the Buck Institute for Research on Aging has suggested that memory loss in patients may be reversed, and improvements may be sustained. The study used a complex program involving changes in diet, brain stimulation, exercise, optimization of sleep, specific pharmaceuticals and vitamins, and additional efforts that affect brain chemistry. Try incorporating these findings into your life by trying these strategies:
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What Is Alzheimers Disease
Alzheimers disease is the most common type of irreversible dementia . Nearly 7 out of 10 people with dementia have the Alzheimers type.
While Alzheimers disease affects up to 1 in 10 Australians over 65 years of age, and up to 3 in 10 Australians over 85, it is not a normal part of ageing.
The brain contains millions of brain cells that organise how the brain stores memories, learns habits and shapes our personality. Signals pass along the connections between brain cells in the form of chemicals called neurotransmitters. Alzheimers disease affects these cells and chemicals, disturbing memory, impairing thinking and causing behaviour changes over time. People with Alzheimers disease eventually need long-term care and support.
There are 2 main types of Alzheimers disease:
- Sporadic Alzheimers is the most common form and usually occurs after age 65. Its cause is not fully understood.
- Familial Alzheimers is caused by a very rare genetic condition and results in dementia, usually in people in their 40s and 50s. This is known as younger onset dementia.
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Symptoms Appear Before Age 60
Perhaps the biggest defining sign of early onset Alzheimers is the timing of the symptoms first appearing. The most common form of Alzheimers, late onset Alzheimers, typically begins showing signs when a person is in their 60s.
Early onset Alzheimers, meanwhile, can start taking effect as early as your 30s and 40s. Typically, patients are diagnosed with early onset Alzheimers in their 40s or 50s.
Dr. James Ellison of the Swank Memory Care Center at Christiana Care Health System in Delaware writes that the majority of early onset Alzheimers disease does not run in families. Some families, however, do have a genetic mutation that almost guarantees development of early onset Alzheimers.
In an interview, Dr. Ellison said that people in their 40s and 50s should not be experiencing the so-called 10 warning symptoms of Alzheimers. If they are, they may have the early onset version of the disease.
In your 40s and 50s you should not be experiencing these symptoms, Ellison said. If you know something is wrong, keep looking for doctors or others who have the knowledge to treat you.
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Memory Loss That Impedes Daily Activities
The most noticeable symptom of Alzheimers disease is often memory loss. A person may start forgetting messages or recent events in a way that is unusual for them. They may repeat questions, having forgotten either the answer or the fact that they already asked.
It is not uncommon for people to forget things as they get older, but with early onset Alzheimers disease, this happens earlier in life, occurs more often, and seems out of character.
Head Injuries And Dementia
Some research has suggested that a serious head injury or trauma could increase the risk of developing dementia. There is a specific form of dementia associated with damage from repeated head traumas, called dementia pugilistica. This condition is believed to affect around two in 10 retired professional boxers.
Outside the boxing ring, the term chronic traumatic encephalopathy is used to describe long-term damage to the brain caused by repeated head injuries. Several contact sports governing bodies are now undertaking research in this area, and have introduced new safety measures in recent years.
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