Dementia With Lewy Bodies And Its Unique Genetic Signature
The new study consisted of over 1,700 subjects from ten different countries with dementia with Lewy bodies as well as nearly 4,500 control subjects. Gene samples were collected from the subjects . Certain genetic markers found in Alzheimers and Parkinsons were associated in the same way in dementia with Lewy bodies. However, a different part of another marker was associated only with dementia with Lewy bodies. Researchers concluded that dementia with Lewy bodies does indeed have its own unique genetic signature, making it its own distinct neurodegenerative disorder, not just part of Alzheimers or Parkinsons disease.
The upshot? The first step in finding a cure or an effective treatment for DLB is to understand why it happens. Now that the genes responsible have been found, perhaps scientists can figure this one out. While its too late for my dad, this is an awful disease, and millions of patients and their families deserve a way to have some control over the long, progressive slide into disability that this disease represents.
Chris Centeno, MD
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Is Dementia Hereditary And Can It Be Prevented
Beingdiagnosedwithdementiacanbeverysurreal.Youdon’twanttobelievethatitistruebecausesufferingfromadiseaselikethisisveryhorrifying.Theideathatyourmemoriesandyourconceptofrealitycouldbestolenfromyoubyamedicalconditioniscompletelyfrightening,andyouwouldn’tbeblamedforfeelingdepressedafterreceivingthisnews.Itisn’tsomethingthatyouwanttohavehappened,butyouhavetodealwithitanyway.
Manypeoplewonderexactlyhowsomeonecontractsadiseasesuchasdementia.Commonpeopledon’tknowalotaboutthisconditionoutsideofthefactthatitcanchangeyourperspectiveandalteryourmind.Manypeopleaskquestionssuchas,”isdementiahereditary?”Afterexaminingthefacts,theinformationthatyoufindoutmightsurpriseyou.
Genes Linked To Lewy Body Dementia Identified
A large U.S.-based research collaboration has discovered five genesBIN1, TMEM175, SNCA, APOE, and GBAassociated with increased risk for developing Lewy body dementia, the second most common form of the progressive disease after Alzheimers.
Lewy body dementia impacts 10% to 25% of all dementia cases. Patients with this condition tend to be male and over the age of 65 years. They have varying degrees and types of symptoms but these include cognitive decline, Parkinsons symptoms and visual hallucinations.
There is quite a big crossover with Parkinsons disease and indeed some researchers believe that both Parkinsons disease and Lewy body dementia are two disorders on a spectrum of Lewy body disease. Both are characterized by widespread deposits of dysfunctional -synuclein proteins in the neurons and brain.
Lewy body dementia is a devastating brain disorder for which we have no effective treatments. Patients often appear to suffer the worst of both Alzheimers and Parkinsons diseases. Our results support the idea that this may be because Lewy body dementia is caused by a spectrum of problems that can be seen in both disorders, said Sonja Scholz, M.D., Ph.D., a researcher at the NIHs National Institute of Neurological Disorders and Stroke, who led the study.
We hope that these results will act as a blueprint for understanding the disease and developing new treatments.
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Is Huntingtons Disease Hereditary
Huntingtons disease is a relatively rare progressive brain disease that has a clear genetic cause. Children of parents with Huntingtons have a 1 in 2 chance of developing it as well. Huntingtons symptoms usually show up in middle adulthood, between the ages of 30 and 55, although about 10% of Huntingtons patients show symptoms before theyre 20 years old. The disease runs its course over the course of 10 to 25 years. Because Huntingtons causes nerve damage in the brain, memory, mood, personality, movement, and speech are all eventually effected.
According to the Huntingtons Disease Society of America, the gene that could lead to the disease exists in every person but only people who inherit a faulty copy of the gene from a parent will go on to develop Huntingtons. The disease affects men and women in roughly equal numbers. Members of all races and ethnic groups are at equal risk for developing Huntingtons.
Is Dementia Passed On Through Our Dna
Medical research seems to suggest that it is very unlikely that dementia can be passed on through our DNA. But in rare cases, some diseases that lead to dementia can be passed on through our DNA. But it is still extremly rare that if a family member such as a parent or grandparent has developed one of the many different kinds of dementia, that their children will inherit the disease at some stage in their life.
This is not to say that somebody with Alzheimers cannot have not passed on the disease from parent to child. It is possible they could have. In some rare cases of Alzheimers, the disease can be inherited from a parent. But this is very rare.There is a group of four genes a person can carry that can lead to a greater risk of Alzheimers. With 3 of the four genes being responsible for early onset dementia in people in their 30s, 40s and 50s with the other gene being responsible for Alzheimers in older people, usually over 65 years of age.
In the majority of cases of Alzheimers the disease is mostly associated with old age. Most cases are diagnosed with people in their 70s and 80s which is often referred to as Senile dementia.
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What Causes Lewy Body Dementia
Lewy body dementia is a broad term covering two separate neurological disorders: dementia with Lewy bodies and Parkinsons disease dementia. The same biological changes to the brain cause both disorders.
A buildup of Lewy bodies causes LBD. Lewy bodies build up in neurons located in certain areas of the brain that are responsible for behavior, movement, and cognitive ability.
Doctors do not know why you or your loved one develop LBD while others do not. There is some thought that the combination of mutation in a persons genes, environmental risk factors and natural aging might lead to the development of LBD in some people. Research into specific causes is ongoing.
Common Lewy Body Dementia Symptoms
Cases of Lewy body dementia can vary considerably for different patients, which is part of why doctors find it so challenging to diagnose effectively. Some of the symptoms you or a loved one may experience if you have LBD are:
- Difficulty with focus and attention
- Visual hallucinations
- REM sleep behavior disorder, which involves acting out your dreams as you sleep
- Sensitivity to anti-hallucination and anti-psychotic drugs
- Frequent falls or fainting
- Autonomic dysfunction, which is when any of those automatic functions our brain handles to ensure we survive stop occurring
People with Parkinsons disease dementia will typically already have a Parkinsons diagnosis and be experiencing many of the symptoms that come with it if symptoms of dementia occur on top of the Parkinsons symptoms, its a solid sign that your loved one is dealing with Parkinsons disease dementia.
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Psychological And Psychosocial Therapies
include some limited evidence for , some benefit for for caretakers, unclear evidence for and tentative evidence for , such as cognitive stimulation programs for people with mild to moderate dementia. Offering personally tailored activities may help reduce challenging behavior and may improve quality of life. It is not clear if personally tailored activities have an impact on or improve for the quality of life for the caregiver.
centers as well as special care units in nursing homes often provide specialized care for dementia patients. Daycare centers offer supervision, recreation, meals, and limited health care to participants, as well as providing respite for caregivers. In addition, can provide one-to-one support and care in the home allowing for more individualized attention that is needed as the disorder progresses. Psychiatric nurses can make a distinctive contribution to people’s mental health.
Some London hospitals found that using color, designs, pictures and lights helped people with dementia adjust to being at the hospital. These adjustments to the layout of the dementia wings at these hospitals helped patients by preventing confusion.
has been found to be helpful. Drawbacks may be that pets are not always welcomed in a communal space in the care setting. An animal may pose a risk to residents, or may be perceived to be dangerous. Certain animals may also be regarded as âuncleanâ or âdangerousâ by some cultural groups.
Cognitive training
Common Symptoms Of Lewy Body Dementia
The disease of Lewy Body Dementia affects cognitive response, changes physical and sleep pattern along with changing behavioral features. Some people may start developing the disorder in movement in the initial stage that further leads to dementia. This is often termed as Parkinsons disease dementia.
Another group of people may start developing cognitive disorder with two or more distinctive features of dementia. There are very few people that come up with neuropsychiatric symptoms. These include hallucinations, behavioral problems, and complex mental activities.
Generic symptoms of Lewy Body Dementia include:
- Impaired thinking like loss of execution, planning, processing and/or ability to understand visual information
- Fluctuation in alertness, attention, and cognition
- Sudden tremors, stiffness, and difficulty in walking
- Changes in bodily functions like blood pressure, temperature regulation bowel and bladder function.
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The Impact Of Rare Genetic Variants
However, these loci only explain a small proportion of the heritability of LBD. To explore whether rare genetic variants contribute to the genetic risk of LBD, the team also performed genome wide aggregation tests. This rare variant analysis identified GBA as being associated with LBD. GBA encodes a lysosomal enzyme and is a known pleomorphic risk gene for LBD and PD.
They also leveraged this WGS data to explore the etiological relationship between AD, PD and LBD. They found that individuals diagnosed with LBD had a higher genetic risk for developing both AD and PD. Overall, this data confirms that the genetic architecture of LBD is complex and overlaps with the risk profiles of AD and PD.
Dlb Genetics Has Remained Largely Elusive
Despite the fact that we now know that genetics plays a role in the disease, genes that cause DLB are still to be identified. In comparison with AD and PD, we know far less about the genetic basis of DLB. There are multiple reasons for this. Firstly, DLB is difficult to diagnose, as phenotypic overlaps with other neurodegenerative diseases can diminish chances of an accurate diagnosis. The lines between different neurodegenerative diseases can often be blurred, and a patient may show features of one or several other diseases, both ante and post mortem. Additionally, DLB is not as frequently recognized as a disease compared to other well-known disorders, such as AD. Both factors result in a substantial rate of mis- and under-diagnosis. This has hindered the collection of large cohorts of cases whose diagnosis is certain, and as a consequence, has limited large-scale genetic analyses. Furthermore, as the disease is age-related, and typically occurs in those aged 65 or older, the likelihood of gathering biomaterials from multiple family members for genetic testing of familial DLB is small. This, coupled with the fact that families with DLB are rare, has limited the understanding of Mendelian DLB genetics. Although still a prevalent cause of disease in the elderly, DLB is less common than diseases such as AD and PD, and hence cohorts will generally be smaller for this disease.
Table 1 Representative examples of genetic studies conducted in sporadic DLB
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Types Of Lewy Body Dementia And Diagnosis
LBD refers to either of two related diagnoses dementia with Lewy bodies and Parkinsons disease dementia. Both diagnoses have the same underlying changes in the brain and, over time, people with either diagnosis develop similar symptoms. The difference lies largely in the timing of cognitive and movement symptoms.
In DLB, cognitive symptoms develop within a year of movement symptoms. People with DLB have a decline in thinking ability that may look somewhat like Alzheimers disease. But over time, they also develop movement and other distinctive symptoms of LBD.
In Parkinsons disease dementia, cognitive symptoms develop more than a year after the onset of movement symptoms . Parkinsons disease dementia starts as a movement disorder, with symptoms such as slowed movement, muscle stiffness, tremor, and a shuffling walk. These symptoms are consistent with a diagnosis of Parkinsons disease. Later on, cognitive symptoms of dementia and changes in mood and behavior may arise.
Not all people with Parkinsons disease develop dementia, and it is difficult to predict who will. Many older people with Parkinsons develop some degree of dementia.
Caregivers may be reluctant to talk about a persons symptoms when that person is present. Ask to speak with the doctor privately if necessary. The more information a doctor has, the more accurate a diagnosis can be.
How Does Lewy Body Disease Progress
Lewy body disease differs from Alzheimers disease in that the progression of the disease is usually more rapid. However, like Alzheimers disease it is a degenerative condition, eventually leading to complete dependence. Death is usually a result of another illness, such as pneumonia or an infection. The average lifespan after the onset of symptoms is about seven years.
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Factors That Increase Your Risk Of Lewy Body Dementia
Until recently, the only known risk factor for developing Lewy body dementia was considered to be an older age. Research has made some gains lately in sifting out what might increase the risk of developing Lewy body dementia. They include the following:
What Is The Life Expectancy Of A Person With Lewy Body Dementia
Unfortunately, there is no proper cure when it comes to Lewy Body Dementia. People who are suffering from Lewy Body Dementia can be expected to live for a further 5 to 8 years. However, this solely depends on the age, the severity of the symptoms of Lewy Body Dementia and other medical conditions. Actually, the severity of Lewy Body Dementia varies across people. The situation may become worse through improper medications, infections, and another underlying disease. In most cases, other forms of dementia have a specific pattern. However, this is a special type of dementia that does not follow any pattern. Generally, death occurs from pneumonia or other illness. The fact is theres no specific treatment or cure to prevent the course of Lewy Body Dementia.
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Building A Lewy Body Dementia Care Team
After receiving a diagnosis, a person with LBD may benefit from seeing a neurologist who specializes in dementia and/or movement disorders. Your primary doctor can work with other professionals to follow your treatment plan. Depending on an individual’s particular symptoms, physical, speech, and occupational therapists, as well as mental health and palliative care specialists, can be helpful.
Support groups are another valuable resource for people with LBD and their caregivers. Sharing experiences and tips with others in the same situation can help people find practical solutions to day-to-day challenges and get emotional and social support.
Cognitive Symptoms Of Lewy Body Dementia
LBD causes changes in thinking abilities. These changes may include:
- Visual hallucinations, or seeing things that are not present. Visual hallucinations occur in up to 80 percent of people with LBD, often early on. Nonvisual hallucinations, such as hearing or smelling things that are not present, are less common than visual ones but may also occur.
- Unpredictable changes in concentration, attention, alertness, and wakefulness from day to day and sometimes throughout the day. Ideas may be disorganized, unclear, or illogical. These kinds of changes are common in LBD and may help distinguish it from Alzheimers disease.
- Severe loss of thinking abilities that interfere with daily activities. Unlike in Alzheimers dementia, memory problems may not be evident at first but often arise as LBD progresses. Other changes related to thinking may include poor judgment, confusion about time and place, and difficulty with language and numbers.
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Genetic Study Of Lewy Body Dementia Supports Ties To Alzheimers And Parkinsons Diseases
NIH-led study locates five genes that may play a critical role in Lewy body dementia.
In a study led by National Institutes of Health researchers, scientists found that five genes may play a critical role in determining whether a person will suffer from Lewy body dementia, a devastating disorder that riddles the brain with clumps of abnormal protein deposits called Lewy bodies. Lewy bodies are also a hallmark of Parkinsons disease. The results, published in Nature Genetics, not only supported the diseases ties to Parkinsons disease but also suggested that people who have Lewy body dementia may share similar genetic profiles to those who have Alzheimers disease.
Lewy body dementia is a devastating brain disorder for which we have no effective treatments. Patients often appear to suffer the worst of both Alzheimers and Parkinsons diseases. Our results support the idea that this may be because Lewy body dementia is caused by a spectrum of problems that can be seen in both disorders, said Sonja Scholz, M.D., Ph.D., investigator at the NIHs National Institute of Neurological Disorders and Stroke and the senior author of the study. We hope that these results will act as a blueprint for understanding the disease and developing new treatments.
The study was led by Dr. Scholzs team and researchers in the lab of Bryan J. Traynor, M.D., Ph.D., senior investigator at the NIHs National Institute on Aging .
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Is Lewy Body Dementia Hereditary
Generally, the cases of Lewy Body Dementia are not considered to be inherited. It occurs irregularly or periodically in people even if they dont have a family history. In rare cases, it has been seen that the disease can affect more than one family member. Although, this is the case when a single gene changes and follows a specific pattern of inheritance. However, in other generic cases, gene do not follow a particular pattern, and thus a multifunctional cause occurs associating with multiple genes with environmental factors and lifestyle.
When dementia is caused by SNCB or SNCA mutation it can be inherited. This means a copy of the altered gene in a single cell is enough to cause the disorder. In such cases, it has been seen that the affected person has a parent with this particular condition. People with mutation of one copy have an increased risk of developing Lewy Body Dementia.
However, scientists are making a lot of efforts in studying the exact underlying cause of inheritance.
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