Genetic Causes Of Dementia
One rare form of Alzheimers disease is passed from generation to generation. This is called Familial Alzheimers disease . If a parent has a mutated gene that causes FAD, each child has a 50% chance of inheriting it. The presence of the gene means that the person will eventually develop Alzheimers disease, usually in their 40s or 50s. This form of Alzheimers disease affects an extremely small number of people probably no more than 100 at any given time among the whole population of Australia.
Three genes have been identified which, if mutated in certain ways, will cause FAD. These are called presenilin 1 , presenilin 2 and the amyloid precursor protein gene on chromosome 21.
How Does Peanut Butter Detect Alzheimers
The researchers discovered that those who had an impaired sense of smell in the left nostril had early-stage Alzheimers. They noted that the participants needed to be an average of 10 centimeters closer to the peanut butter container in order to smell it from their left nostril compared to their right nostril.
Information About Genetic Testing
Having a test to look for a faulty gene that causes dementia is only appropriate for a very small number of people. This is because inherited dementia is rare.
If you are worried that you have a strong history family of early-onset Alzheimers disease or frontotemporal dementia, you can speak to your doctor about this.
Not all gene mutations that cause dementia have been identified, meaning that some families may have many affected members, but no mutation can be found. Therefore, a negative test result cannot always rule out a genetic cause of a disease.
If a test is appropriate, your doctor should be able to refer you to a genetic counsellor or specialist. This could be a cognitive neurologist or memory clinic psychiatrist. They will discuss with you the pros and cons of taking a test and what will be involved. They will also tell you where the results will be kept, who they will be shared with, and what the next steps would be. For people found to have a genetic mutation that causes dementia, these discussions will also cover the options available if you are considering starting a family.
To find out more about genetic testing and what support is available you can visit www.raredementiasupport.org or call 020 3325 0828. Leave a message and you will be referred to the most appropriate team member.
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Mri Scans Can Be Inconclusive
Sometimes, MRI scans are inconclusive and more tests may be required. These tests include the positron emission tomography or PET test and the single-photon emission computed tomography, which provide images of brain activity based on blood flow or oxygen consumption.
The tests can help narrow down a diagnosis by revealing deficits common in Alzheimers that are distinct from other dementias. Unfortunately, these scans cannot identify the disease with certainty. They cannot reveal the microscopic changes in brain tissue, something that characterizes Alzheimers. The good news is that brain scan technology is continuously evolving and soon there will be more definite scan to detect Alzheimers.
In short, no blood test, brain scan or physical exam can definitely diagnose Alzheimers. The situation is further complicated by the fact that there are many conditions that can produce symptoms resembling those of early Alzheimers.
An MRI scan will definitely help to eliminate other conditions that can cause similar symptoms as Alzheimers but it cannot be used to give a conclusive diagnosis of Alzheimers. A more detailed evaluation is required for that.
Why Didnt She Get Alzheimers The Answer Could Hold A Key To Fighting The Disease
Researchers have found a woman with a rare genetic mutation that has protected her from dementia even though her brain has developed major neurological features of the disease.
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The womans genetic profile showed she would develop Alzheimers by the time she turned 50.
She, like thousands of her relatives, going back generations, was born with a gene mutation that causes people to begin having memory and thinking problems in their 40s and deteriorate rapidly toward death around age 60.
But remarkably, she experienced no cognitive decline at all until her 70s, nearly three decades later than expected.
How did that happen? New research provides an answer, one that experts say could change the scientific understanding of Alzheimers disease and inspire new ideas about how to prevent and treat it.
In a study published Monday in the journal Nature Medicine, researchers say the woman, whose name they withheld to protect her privacy, has another mutation that has protected her from dementia even though her brain has developed a major neurological feature of Alzheimers disease.
This ultra rare mutation appears to help stave off the disease by minimizing the binding of a particular sugar compound to an important gene. That finding suggests that treatments could be developed to give other people that same protective mechanism.
The womans brain was laden with the foremost hallmark of Alzheimers: plaques of amyloid protein.
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Pillar #: Quality Sleep
There are a number of links between poor sleep patterns and the development of Alzheimers and dementia. Some studies have emphasized the importance of quality sleep for flushing out toxins in the brain. Others have linked poor sleep to higher levels of beta-amyloid in the brain, a sticky protein that can further disrupt the deep sleep necessary for memory formation.
If nightly sleep deprivation is slowing your thinking and or affecting your mood, you may be at greater risk of developing or deteriorating symptoms of Alzheimers disease. To help improve your sleep:
Establish a regular sleep schedule. Going to bed and getting up at the same time reinforces your natural circadian rhythms. Your brains clock responds to regularity.
Set the mood. Reserve your bed for sleep and sex, and ban television and computers from the bedroom .
Create a relaxing bedtime ritual. Take a hot bath, do some light stretches, listen to relaxing music, or dim the lights. As it becomes habit, your nightly ritual will send a powerful signal to your brain that its time for deep restorative sleep.
Quiet your inner chatter. When stress, anxiety, or worrying keeps you awake, get out of bed. Try reading or relaxing in another room for twenty minutes then hop back in.
What To Do If Someone In Your Family Is Diagnosed With Alzheimer’s
Contact the Alzheimer’s Association . Find out about resources available to help you and your family. State and county agencies may also be able to help.
Plan for the future. This includes legally designating someone to make health care and financial decisions for the affected person when he or she can’t.
Investigate long-term care options. Nursing care is expensive, and finding a good place can take time. Start early.
Take care of physical health. People with dementia who live a healthy lifestyle tend to progress more slowly to the later stages.
Steer away from genetic testing. Even if you have the APOE Alzheimer’s risk gene, it usually doesn’t mean you will develop dementia later in life.
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Family History Of Dementia
Individuals with a family history of dementia may be at a higher risk of developing dementia. However, this may be due to the inheritance of gene variants that increase susceptibility to dementia rather than cause it directly. In such cases, chances of getting dementia are also influenced by social and environmental factors as well as lifestyle choices.
In the case of familial dementia, genetic testing may be useful. Such genetic testing is available for genes involved in Alzheimers disease and frontotemporal dementia . This can help people to be vigilant about the signs and symptoms of dementia and increase awareness about available tests and treatments. Although there are no cures available for dementia, individuals may participate in ongoing clinical trials.
Next Generation: Stefanie Bastien Always Knew She Wanted To Help Others
Stefanie Bastien always knew she wanted to help others, but upon entering a tough job market for teachers after studying childhood education in college, she had to put those dreams on hold. Instead, while she began her early professional career in sales and marketing, one personal connection along the way inspired Bastien to enter the nonprofit sector and use her unique skill set to start making a difference.
Today, as the Director of Development at the Alzheimer’s Association Northeastern New York, Bastien helps lead the largest nonprofit funder of Alzheimerâs research and connects with families, caregivers and community advocates impacted by the disease in some way and to work toward a future with a cure.
This conversation has been edited for clarity and space.
Q: You’re being recognized as a “next generation” woman to watch in the Capital Region. To you, what does this next generation of female leaders look like?
A: Since I began my career, great strides have been made in the workplace for women, but there is much more to be done and the next generation of female leaders can help us get there. These women leaders are bold, resilient and ready to take on challenges â and there is a solidarity among us.We want to lift each other up and see one another succeed. This became very evident during the pandemic.
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Family History By The Numbers
Studies of family history say that if you have a close relative who has been diagnosed with Alzheimer’s diseasethe most common form of dementia in older adultsyour risk increases by about 30%. This is a relative risk increase, meaning a 30% hike in your existing risk.
If you are age 65, the risk of being diagnosed with Alzheimer’s is 2% per year, although this also means a 98% chance per year of not developing Alzheimer’s. In absolute numbers, a 2% annual risk means that two out of 100 65-year-olds will develop dementia every year.
Family history raises the 2% annual risk by about 30%, to 2.6% per year. That means going from 20 cases in a group of 1,000 to 26 in 1,000, or six additional cases in 1,000. “So the absolute increase is relatively small,” Dr. Marshall says.
Age raises the chance of Alzheimer’s more than family history. People in their 70s have a 5% chance of being diagnosedmore than twice that of people in their 60s. Family history raises this by 30%, from 5% to 6.5%. Again, the absolute change is relatively small.
Reducing Your Risk Of Developing Dementia
As mentioned earlier, genes increase the risk of dementia but do not cause it in most cases. There are multiple risk factors associated with dementia, including cardiovascular diseases, diabetes, and smoking, that can be managed to help in preventing dementia. Maintaining a healthy lifestyle with physical exercise, a balanced Mediterranean diet, low levels of alcohol intake and abstinence from smoking can help in reducing the risk of dementia.
Individuals with substance use disorders are often at an increased risk of developing dementia. In addition, family members of an individual with dementia may turn to substances to deal with the stress of caring for their loved one. If you or a loved one suffers from a substance use disorder, The Recovery Village can help. Contact us today to learn about specialized treatment programs that can work well for your situation.
Medical Disclaimer: The Recovery Village aims to improve the quality of life for people struggling with a substance use or mental health disorder with fact-based content about the nature of behavioral health conditions, treatment options and their related outcomes. We publish material that is researched, cited, edited and reviewed by licensed medical professionals. The information we provide is not intended to be a substitute for professional medical advice, diagnosis or treatment. It should not be used in place of the advice of your physician or other qualified healthcare provider.
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Genes Which May Influence Alzheimers Disease
Having a close relative with the Alzheimers disease is not evidence of a genetic link. People who are influenced by risk factor genes are only at a slightly increased risk in developing the disease than the average population.
The most important gene discovered to date is the Apolipoprotein E gene, which is found in chromosome 19. This gene occurs in three forms in humans: types 2, 3 and 4. Every person in the world carries two Apolipoprotein genes: they can be the same type , or a mixture of two types . What has been found is that people with at least one type 4 and especially those with two, such as 4,4, are at an increased risk of developing Alzheimers disease earlier in life than those with the other types of Apolipoprotein E. Nevertheless half of the people aged 85 who have 2 copies of apolipoprotein E 4 do not have symptoms of Alzheimers disease at that age.
People with type 2, especially 2,2, appear to be protected against developing Alzheimers disease, until much later in life. Researchers do not understand why this is so, and there is much research underway to find out why.
The type of Apolipoprotein does not mean definitely that Alzheimers disease will or will not occur. Indeed it is known that some people can reach 90 with type 4 and not develop dementia, whereas others with type 2 can develop dementia much earlier in life. What this means is that the type of Apolipoprotein a person has, is not enough on its own to cause Alzheimers disease.
Dementia And Down Syndrome
People with Down syndrome are born with an extra piece of DNA. This means they also have an extra copy of the APP gene. This leads to the build-up of amyloid plaques in the brain, which play a role in the development of Alzheimers disease. While not everyone with Down syndrome will go on to develop symptoms of Alzheimers, most people with the condition over the age of 40 will have amyloid build-up. It is estimated that about 50% of people with Down syndrome develop symptoms like memory loss, usually in their 50s and 60s.
To find out more about Down syndrome and dementia you can contact Downs Syndrome Association helpline on 0333 1212 300 or visit their website www.downs-syndrome.org.uk.
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Natural Occurring Functional Amyloids
Amyloid fibrils do occur naturally in many biological systems, performing various different roles in the organisms using them. In mammals, one example is the proteins of the interior lens fiber cells of the eye., It is believed that amyloid-like structures of the crystallin proteins of the lens are responsible for the lens picking up amyloid-specific dyes such as Congo red and Thioflavin T, as well as showing other amyloid traits in Raman and infrared spectroscopy. It is believed that the stability and protease resistance of the -sheet rich amyloid fibrils plays an important role in these function of these proteins. Another notable use of amyloid fibrils in humans is the production of the pigment melanin. This pigment is produced in specialized lysosomes that contain an amyloid fibril that acts to sequester toxic intermediates involved in the production of melanin, hence acting as a template for the formation of melanin.
Effects On Tissues And Organs
Amyloidosis is defined as the deposition of amyloids in one or more organs of the body. Cellular death due to amyloid fibril deposits and their cytotoxic precursors can damage tissues and ultimately result in organ failure. Sometimes organ failure occurs before very large amyloid fibril deposits are observed in the affected organs, suggesting that damage to the organs was done by the oligomers or protofilaments leading to the amyloids fibrils. Thus, it is important to differentiate amyloidosis from amyloid diseases that are due to the toxic effects of the various amyloid species.
Amyloid fibril deposits are also believed to disrupt organ function by physical disruption of the tissue architecture. This effect is more pronounced in organs such as the heart, where very large amyloid fibril deposits can cause significant changes to the gross structural properties of the heart, leading cardiac dysfunction. In particular, the inelasticity due to amyloid fibril infiltration of cardiac muscle restricts ventricular filling, and this eventually results in heart failure. Additionally, the infiltration of tissues with amyloid fibrils can cause necrosis, as observed in the cardiac muscle in cardiac amyloidosis sufferers, and this can lead to impaired organ function and eventually death.
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Effects Of Amyloids On Cells
There is a large body of evidence that shows that the fibrils or the intermediates of fibril formation can adversely affect cells, however, there is a lack of consensus in the literature as to their precise effect on cells. Some researchers argue that the fibril precursors are cytotoxic to cells, and cause the damage that later manifests as the amyloid disease, while the amyloid fibrils themselves are relatively inert.,, In these works, the soluble oligomeric fibril intermediates or precursors are presented as the primary toxic species responsible for the cytotoxic effects observed. Amyloid oligomers are known to disrupt various cellular processes, such as allowing the passage of Ca2+ ions through cell membranes.
The various toxic effects of amyloid oligomers on cell plasma membranes. Effects illustrated are nonspecific interactions which are the carpeting effect, pore formation and detergent effects with cellular phospholipid bilayers that result in leakage across the membranes. Image taken from Ref., from ©Wiley, reproduced with permission.
Cause #: Genetic Mutations
Alzheimers disease isnt fully understood. Scientists believe that for most people, the disease has genetic, lifestyle, and environmental factors. All these factors may work together to create the right conditions for the disease to take root.
There is a hereditary component to Alzheimers. People whose parents or siblings have the disease are at a slightly higher risk of developing the condition. However, were still a long way from understanding the genetic mutations that lead to the actual development of the disease.
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