Find An Experienced Dementia Care Counselorfor Both Of You
One of Johnstons studies found that when caregivers and people with dementia sought treatment for depression, they gained greater access to care, services and support. Caregivers should have someone to talk to regularly, who can provide support, educate them about the illness and coach them on how to cope as it progresses, says Johnston.
Genetic Testing For Alzheimer’s Disease
A blood test can identify which APOE alleles a person has, but results cannot predict who will or will not develop Alzheimer’s disease. Currently, APOE testing is used primarily in research settings to identify study participants who may have an increased risk of developing Alzheimer’s. This knowledge helps scientists look for early brain changes in participants and compare the effectiveness of possible treatments for people with different APOE profiles.
Genetic testing is also used by physicians to help diagnose early-onset Alzheimers disease and to test people with a strong family history of Alzheimers or a related brain disease.
Genetic testing for APOE or other genetic variants cannot determine an individuals likelihood of developing Alzheimers diseasejust which risk factor genes a person has. It is unlikely that genetic testing will ever be able to predict the disease with 100 percent accuracy, researchers believe, because too many other factors may influence its development and progression.
Some people learn their APOE status through consumer genetic testing or think about getting this kind of test. They may wish to consult a doctor or genetic counselor to better understand this type of test and their test results. General information about genetic testing can be found at:
Cause #: Past Head Trauma
The Alzheimers Association states that scientists have found a link between traumatic brain injury and a greater risk of dementia. After a traumatic injury, your brain creates large amounts of beta amyloid. This is the same protein that develops into the damaging plaques that are a hallmark of Alzheimers.
Theres one difference: After a traumatic brain injury, beta amyloid, although present, doesnt clump into plaques. However, the damage may increase the risk of them doing so later in life.
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How Genetics Impact Your Risk Of Alzheimers
There are certain genes/mutations that increase your risk of Alzheimers, and a few very rare genes/mutations that may directly cause Alzheimers disease.
These extremely rare genes that directly cause Alzheimers are called deterministic genes. Those that only increase your chances of developing Alzheimers are called risk genes.
Experts do not recommend routine genetic testing to diagnose Alzheimers. There may be very rare genes that may directly cause early-onset Alzheimers, but genetic testing cannot give you a 100% accurate diagnosis or prediction.
The most common gene associated with higher disease risk is the APOE-e4 allele. Interestingly, individuals with APOE-e2 variation have a risk for the development of Alzheimers.
Does Alzheimers run in the family? Alzheimers runs in the family, in a sense. Those who have a first-degree relative with the disease are at increased risk of developing Alzheimers. This does not equate to a 100% guarantee that youll develop the disease. But genetics seem to partially contribute to developing Alzheimers.
Can you get Alzheimers if it doesnt run in your family? You can get Alzheimers if it doesnt run in your family. The causes of Alzheimers disease are not purely genetic. Age is the biggest risk factor for developing the disease. Everyone older than 65 years old is at risk of developing Alzheimers. However, having no family history of dementia may decrease your risk of dementia.
Can Frontotemporal Dementia Be Inherited
Sometimes, yes. FTD is relatively rare compared with Alzheimers disease or vascular dementia, but it can be passed on directly from parent to child. A diagnosis of FTD can therefore cause a great deal of worry to someone who has children or grandchildren.
Most FTD is not directly inherited, but about 40 per cent of people who develop the condition will have at least one close relative diagnosed with some kind of dementia. This can include FTD, Alzheimers disease or amyotrophic lateral sclerosis . In general, the greater the number of relatives who have had dementia particularly FTD or ALS the greater the chances of developing familial FTD.
Of the different types of FTD, the behavioural form is the one that is inherited most often. The type of FTD which starts as primary progressive aphasia is only rarely inherited.
There are lots of different genes causing familial FTD, each with its own pattern of inheritance. If you are concerned about either passing on an FTD gene or inheriting the disease from your parents, you can ask your GP to refer you to a genetic testing service in your area. These people are specially trained to guide you through the process of finding out whether you have a gene that causes FTD. You can also get in touch with a specialist support group at Rare Dementia Support, who can provide information and advice about how to cope with having a heritable form of FTD in your family.
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Hope For A New Generation
Although this news may at first be dispiriting to caregivers who have watched their parents suffer from the disease, it may also lead to new methods of detection and prevention. Dr. Lisa Mosconi from the New York University Langone Medical Center said, Studies show that by the time people come in for a diagnosis, there may be a large amount of irreversible brain damage already present. This is why it is ideal that we find signs of the disease in high-risk people before symptoms occur.
If patients and doctors know that a family history of Alzheimers can mean a higher risk for children, the disease is more likely to be found earlier.
Does Alzheimers run in your family? Would you want to know your chances of developing the disease?
Ohara: Familial Dementia With Lewy Bodies
Ohara et al.27 describe a family with three affected individuals in one generation, all of whom were clinically examined.27 All three exhibited progressive dementia with early onset, as well as psychosis, and two also had parkinsonian features. Parkinsonian signs and symptoms primarily consisted of clumsiness, gait disturbance, rigidity, masked face, and bradykinesia. Treatment of parkinsonism with levodopa therapy was effective in one individual, but relatively ineffective in the other. Dementia features included memory disturbance, dysarthria, word-finding difficulty, and paraphasia. Psychiatric features, noted during the period of increasing cognitive decline, included delusions of persecution , sexually uninhibited behaviors , visual hallucinations , and compulsive behavior .
An autopsy was performed on an individual with dementia, parkinsonism, and psychosis. Neuropathological findings revealed depigmentation in the substantia nigra. Microscopic examination revealed numerous ubiquitin-positive LBs in the brainstem and throughout the cerebral cortex. Neurofibrillary tangles and senile plaques were not detected.
The pattern of inheritance in this family is most consistent with autosomal-recessive inheritance. DNA from one affected individual was screened for known mutations in the alpha-synuclein gene and ubiquitin carboxy-terminal hydrolase L1 gene, as well as deletions in the parkin gene. No mutations were found.
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If Familial Alzheimers Disease Is Suspected
Genetic testing can identify specific changes in a persons genes. This test can tell if a person has FAD and if a child has inherited the changed gene from a parent and will develop the disease in the future. It cannot determine when the symptoms will begin. It is essential to ensure that suspected cases in the family have, or have had, Alzheimers disease and not some other form of dementia. This can only be done through a medical examination, or a careful analysis of past medical records if the person is no longer alive.
Give Each Other Space
As the disease progresses, rapidly swinging moods and angry, negative outbursts can take a great toll on caregivers, Johnston says. Plus, more than 90 percent of people with dementia develop behavioral symptoms or psychiatric problems at some point during their illness. Its perfectly OK to calmly say, I need to have some privacy, and leave the room to have a moment of peace, to allow both of you to calm down.
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Which Genes Are Responsible For Alzheimers
APOE-e4 is the most common gene associated with Alzheimers, but it is only a risk gene. It doesnt necessarily guarantee youll develop the disease.
Alzheimers disease genetics can seem complicated. That might be because researchers dont know every gene on every chromosome that may lead to Alzheimers. But scientists have figured out 3 deterministic genes that result in Alzheimers disease, as well as several genes and genetic mutations that bring a greater risk of Alzheimers.
Deterministic genes are only found in an estimated 1% of Alzheimers cases. Here are the 3 deterministic genes that directly cause Alzheimers, particularly early-onset Alzheimers disease:
Mutations or variations of the following genes may put you at higher risk of Alzheimers, especially late-onset Alzheimers disease:
Apolipoprotein E-e4 was identified in 1993 as the first gene variation found to increase the risk of Alzheimers disease. According to the Alzheimers Association, researchers estimate that between 40-65% of people diagnosed with Alzheimers have the APOE-e4 gene.
There is a blood test that tests for APOE-e4. This genetic test helps inform an Alzheimers diagnosis, though it cannot diagnose Alzheimers by itself.
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|
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Genes And Dementia With Lewy Bodies
Dementia with Lewy bodies is caused by a build-up of abnormal proteins in the brain and may have symptoms similar to those seen in Parkinsons disease. Age is currently the biggest known risk factor for dementia with Lewy bodies, although research is underway to find out whether genes may also play a role.
The Truth About Genetic Testing
Genetic testing can help identify mutated genes and risks for certain disorders that can be prevented or treated, but when it comes to genetic testing for Alzheimers disease, support is not quite universal.
In some cases, it can be appropriate to be tested for the presence of the deterministic genes that will cause Alzheimers disease. However, since there is currently no cure for Alzheimers, there are not a lot of valid reasons for this testing unless it is to participate in research trials. At this time, most experts do not recommend routine genetic testing for Alzheimers disease as the results have no practical impact on medical treatment or health care decisions.
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Testing For Familial Alzheimers Disease
The decision to undergo testing for FAD is very complex and the advantages and disadvantages must be carefully considered. The test does not produce a relative risk of acquiring the dementia, but is a definitive prediction of whether a person will get a profound and progressive illness in ones middle years. The test can only be completed with the informed consent of the person being tested. No one should ever be pressured to have such a test.
Knowing that you are carrying the gene may help some people plan for the future. It enables them to consider future lifestyle choices and to let their wishes be known to someone they trust. However, given that no cure is available an individual has to consider whether they want to know that they will develop dementia at some time in the future.
To help people consider these issues specialised genetic counselling is essential. The doctor can provide details of this service. In the future, when preventive treatments for Alzheimers disease become available, there may be increased reasons to seek testing.
Cause #: Mild Cognitive Impairment
People who already have mild cognitive impairment may be at an increased risk of developing full-blown Alzheimers. A mild cognitive impairment doesnt necessarily impact a persons daily life in a major way. However, it can have some effects on memory, thinking skills, visual perception, and the ability to make sound decisions.
Scientists are trying to understand why some cases of mild cognitive impairment progress into Alzheimers. A
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Genes Which May Influence Alzheimers
The biggest risk for developing Alzheimers is age. In fact, 99% of Alzheimers cases are not hereditary.
Less than 1% of Alzheimers cases have a rare hereditary type called early-onset Familial Alzheimers Disease . This disease affects 2-3% of the population and can occur in your 30s, 40s, and 50s. If you are diagnosed with eFAD, your siblings or children may have a 50-50 chance of inheriting the disease.
Certain genes can cause eFAD if they experience a specific mutation or change. These genes include:
- Amyloid precursor protein gene APP on chromosome 21
- Presenilin 1 on chromosome 14
- Presenilin 2 on chromosome 1
99% of Alzheimers cases are not hereditary.
Taking Part In Genetic Testing
After questioning the likeliness of inheriting Alzheimers, perhaps the second most common question is: Should I take part in genetic testing? Dr. Marshall answers this question, saying, Its not going to be helpful since it wont tell you whether you will develop the disease. It will only tell you if you are at a greater or lower risk.
Dr. Marshall elaborates, saying that often the testing is complex and that many companies are ill-equipped to perform the testing. He also points out that if a person does test positive for a genetic form of Alzheimers , it could impact their ability to procure some types of insurance.
In conclusion, its always best to consult with a professional, such as a trusted healthcare provider, before considering any type of genetic testing.
Does the Alzheimers gene run in your family? Which inheritable traits are you most concerned about? Wed like to hear your thoughts in the comments below.
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What Is Alzheimers Disease
Alzheimers disease damages your brain, gradually destroying memory and thinking skills. Researchers believe that the damage begins up to a decade before symptoms appear. Abnormal deposits of proteins form hard plaques and tangles throughout the brain. These deposits interfere with normal brain function.
As they grow, plaques can interrupt communication between neurons, the messengers in your brain. Eventually these neurons die, damaging your brain so much that parts of it begin to shrink.
Genetic Testing And Alzheimers Disease
Testing can show whether you have a version of a gene that increases your risk of Alzheimers. Testing can also uncover the rare cases when an inherited genetic change, or mutation, causes Alzheimers.
At OHSU, we generally do not recommend routine genetic testing for Alzheimers because:
- Many factors can lead to the disease.
- Most people who develop Alzheimers do not have a related genetic variant.
- Most people who have a variant do not develop the disease.
Talk with your primary care doctor or to a medical geneticist to learn more or to better understand your risk if youve taken a test on your own.
Genetic testing can show whether you carry an inherited gene mutation that causes early-onset Alzheimers. In some cases, we may recommend testing to confirm a diagnosis in someone who has signs or symptoms of early-onset Alzheimers.
Some family members, after careful discussion with a genetic counselor, may also want testing to find out whether they carry the mutation.
At-home tests from DNA analysis companies can give consumers access to limited genetic testing, without guidance from a genetic counselor. An at-home test can detect variants that increase the risk of late-onset Alzheimers disease.
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Other Rare Types Of Dementia
Other rare types of dementia that can be passed down through the family include Huntingtons disease and Familial Prion disease. These diseases have a 50/50 chance of being passed on because they are caused by a single faulty dominant gene.
This means that, if you inherit a healthy gene from one parent and a faulty gene from the other parent, the faulty one will always be the one that is used because its the dominant gene.