What If I Carry The Gene
There are ongoing clinical trials testing therapies to treat people who have Parkinson’s and carry certain gene mutations. Proving that it can be important to know which gene mutation you carry. Consult with your doctor when considering a genetic test to determine if you are eligible to participate in gene-based clinical trials.
The Parkinsons Foundation study, PD GENEration: Mapping the Future of Parkinsons Disease, is the first national study to offer genetic testing and counseling at no cost for those with a confirmed Parkinsons diagnosis. Learn more and enroll.
If I have Parkinson’s will my child get it too? Will I inherit Parkinson’s if my parent or grandparent has it?
Most people with Parkinson’s have no known genetic link. Their children will likely never develop Parkinson’s. There are some known genetic variations that increase the risk of getting Parkinson’s, but most people with these variations do not get Parkinson’s. Like many other diseases, Parkinson’s is a result of a complex interaction between genes and environmental factors.
In a small number of people , Parkinson’s is inherited and can affect multiple family members. Their children may have a higher risk of developing Parkinson’s. However, there is no guarantee they will develop PD.
Should I take an at-home genetics test to see if I will get Parkinson’s?
What if I take a genetic test and learn I carry a Parkinson’s gene?
Am I more likely to get Parkinson’s because of my genes or environment?
How Many Cases Of Parkinsons Are Caused By Genetics
Parkinsons caused by genetic factors is extremely rare, but does happen sometimes:
- Some people with Parkinsons carry a very rare change in a gene that causes the condition directly. People diagnosed with Parkinson’s at a younger age are more likely to have a genetic link.
- A change in the LRRK2 gene known as G2019S is probably the most common genetic variant linked to Parkinsons. In the UK, around 1 in 100 people with Parkinsons carry it. Its more common in North African and Jewish populations. People who carry this variant may develop the condition later in life and have around a 70% chance of being diagnosed by the age of 80.
- As well as single genetic changes that directly cause the condition, we now know that there are also changes that increase risk. The most common of these is having a variant in the GBA gene. These changes are more common but their effects are more subtle. Carrying one of them means you are more likely to develop Parkinsons but often only very slightly.
What Will Happen To The Data I Have Shared To Support This Program
We understand this news can be disappointing and we hope it will not discourage you from taking part in Parkinsonâs Disease research in the future. We will continue to share information about other genetic Parkinsonâs Disease research with you. Our aim, as always, is to connect you with opportunities to support research based on your health and genetics.
Have questions?
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Who Should Consider A Genetic Test For Parkinsons
There are two groups of people who might consider getting genetic testing and we will discuss each group separately.
Genetic testing for PD is a common request and a number of commercial labs perform panels of genetic testing for PD. You may ask: How can I test myself for Parksinons? Whether youre considering getting a genetic test through your doctor, or performing one at home, its important to note that at-home test dont map the entire gene for mutations. Genetic testing through your doctor will test for GBA, PARK7, SNCA, LRRK2, parkin and PINK1.
Both groups are faced with two questions: Should I get genetic testing? And if so, what should I do with the results? Before we address these two questions, we need to learn more about the complexity of genetic testing in PD.
Invitae Hereditary Parkinson Disease And Parkinsonism Panel
Test code: 03352
Test description
The Invitae Hereditary Parkinson Disease and Parkinsonism Panel analyzes genes that are associated with Parkinsons disease and related conditions involving parkinsonian features. The genetic heterogeneity associated with these conditions can make it difficult to use phenotype as the sole criterion to select a definitive cause. These genes were curated based on the available evidence to date to provide analysis for Parkinson disease. Given the clinical overlap of Parkinson disease, broad panel testing allows for an efficient evaluation of several potential genes based on a single clinical indication. Some genes in this test may also be associated with additional unrelated disorders, which are not included in the list of disorders tested. Genetic testing of these genes may help confirm a clinical diagnosis, predict disease prognosis and progression, facilitate early detection of symptoms, inform family planning and genetic counseling, or promote enrollment in clinical trials.
This test includes targeted analysis of 19 of the most common pathogenic variants in the GBA gene, which are associated with increased risk of late-onset Parkinsons disease.
New York approved:
Alternate specimens:
Clinical description
To view the complete clinical description of this panel, click here.
Assay information
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What Is Genetic Testing
Genes inside our cells carry the instructions for our physical attributessuch as hair and eye color, height, and the shape of our noses and kneesbut they also contribute to our risks for developing diseases.
We all carry the same genes, but within those genes there are differences, which we call variants, Mata says. The variants make us the individuals we are. If we think about our genetic information as a book, the genes would be the chapters, and the variants are the words. Sometimes these words have consequences, causing or increasing our risk to develop certain diseases. With genetic testing we look at those genes and try to find variants that could be potentially disease-causing, he says.
Mata explains that genetic variants are passed from generation to generation, so genetic testing, under the supervision of a genetic counselor, could be very helpful to determine a possible genetic cause of a disease.
The impact for the patient with Parkinsons disease could be huge, as several clinical trials are ongoing for individuals with certain genetic variants, Mata says. This means that new therapies are being created targeting the biological cause of the disease, therefore potentially being much more effective in slowing or stopping the progression of the disease in that specific group of patients.
Is Early Diagnosis Possible
Experts are becoming more aware of symptoms of Parkinsons that precede physical manifestations. Clues to the disease that sometimes show up before motor symptoms and before a formal diagnosis are called prodromal symptoms. These include the loss of sense of smell, a sleep disturbance called REM behavior disorder, ongoing constipation thats not otherwise explained and mood disorders, such as anxiety and depression.
Research into these and other early symptoms holds promise for even more sensitive testing and diagnosis.
For example, biomarker research is trying to answer the question of who gets Parkinsons disease. Researchers hope that once doctors can predict that a person with very early symptoms will eventually get Parkinsons disease, those patients can be appropriately treated. At the very least, these advances could greatly delay progression.
Recommended Reading: Johns Hopkins Parkinson’s Disease And Movement Disorders Center
What To Know About Genetic Testing
Genetic testing can help identify changes in our DNA that may be linked to Parkinsons. Learning your genetic status is a personal decision, but the results may help you take action in your health and advance science closer to cures.
Some of the greatest strides in understanding Parkinsons disease and developing new therapies have come from the study of human genetics. Read more below on what to consider before genetic testing and where to access this type of testing.
Ask the MD
Rachel Dolhun, MD, is a board-certified movement disorder specialist and The Michael J. Fox Foundation’s Senior Vice President of Medical Communications. In this short video, she explains what to expect when you opt for genetic testing and genetic counseling in Parkinson’s.
Navigating Clinical Trials
The Michael J. Fox Foundation’s guide and related materials will help you learn the basics of clinical research and gain an understanding of the valuable contributions made by study volunteers. Learn about genetic research and testing in Chapter 3 of the guide.
People Who Already Have Pd: Should I Get Tested And What Do I Do With The Results
Up until recently, even people with PD with a very extensive family history of PD would not necessarily receive genetic testing because there were no clear uses for the results. There has been research directed at figuring out whether PD caused by or associated with certain mutations have particular clinical characteristics . However, there remains so much variability in clinical characteristics even among people with the same PD mutation, that there are still no clear practical implications in knowing whether a PD patient harbors a particular mutation. There is also, so far, no difference in treatment or management of PD whether or not the patient harbors one of the known mutations. That may change however, with the advent of clinical trials that target particular mutations.
There are two genes that have received particular attention recently because medications are being developed that target those with mutations of these genes.
GBAis a gene that increases the risk of developing PD. The gene encodes for the GBA enzyme, a protein used by the body to break down cellular products. Having two abnormal GBA genes causes Gauchers disease, which is characterized by the buildup of these cellular products resulting in fatigue, bone pain, easy bleeding and an enlarged spleen and liver. When a person inherits only one abnormal gene, he or she does not develop Gauchers disease, but does incur a small increased risk of PD. Most people with one mutated GBA gene do not develop PD.
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New Dna Diagnostics For Parkinson’s Disease
14 December 2014
Research at UCL into the genetic causes of Parkinson’s disease led to the development of a new genetic test, now available to patients and their families. It also provided insights into patterns of Parkinson’s disease in particular ethnic groups and generated industry research leading to new drug candidates.
Approximately 200,000 people in the UK suffer from Parkinson’s disease , a neurodegenerative condition affecting multiple areas of the brain. The lifetime risk of developing PD in the UK is now 4%, making it the second most common neurodegenerative disease in the country.
Huge improvements over the last 15 years in the understanding of PD have been driven largely by findings in genetics research. In 2004, researchers led by Professor Nicholas Wood were an integral part of the group that first described mutations in the gene LRRK2. This represented a significant shift in understanding of a condition that had, for many years, had been taught to medical students as the prime example of a non-genetic disease. Furthermore, the team’s discovery in 2005 of the so-called common mutation in this gene showed for the first time that a relatively rare genetic variant could not only cause familial PD, but could also play a significant role in sporadic PD.
When I got the results I thought ‘that’s why’. There was some sense of relief to know there was a reason behind the illness. – Patient describing the impact of the test
Other Causes Of Parkinsonism
Parkinsonism is the umbrella term used to describe the symptoms of tremors, muscle rigidity and slowness of movement.
Parkinsons disease is the most common type of parkinsonism, but there are also some rarer types where a specific cause can be identified.
These include parkinsonism caused by:
- medication where symptoms develop after taking certain medications, such as some types of antipsychotic medication, and usually improve once the medication is stopped
- other progressive brain conditions such as progressive supranuclear palsy, multiple systems atrophy and corticobasal degeneration
- cerebrovascular disease where a series of small strokes cause several parts of the brain to die
You can read more about parkinsonism on the Parkinsons UK website.
Page last reviewed: 30 April 2019 Next review due: 30 April 2022
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Genes Connected To Parkinson’s
SNCA
In 1997, researchers at the National Institutes of Health made the first Parkinsons genetic connection, discovering that mutations in the SNCA gene were common in several families who had many members with Parkinsons. While mutations in this gene are rare, they have taught us invaluable information about PD.
The SNCA gene instructs the body to make the protein alpha-synuclein, which for reasons that are not yet known, clumps in the brain cells of people with PD. Study of the SNCA gene led to this understanding that applies to nearly all people with the disease. Since then, alpha-synuclein has been a major target of new drugs for Parkinsons.
LRRK2
Another gene that plays a role in Parkinsons is LRRK2, which accounts for one to two percent of all cases. For people of particular ethnic backgrounds Ashkenazi Jewish and North African Berber descent mutations in the LRRK2 gene account for a much greater number of cases than in the general PD population. Mutations in LRRK2 lead to too much activity of the LRRK2 protein, though recent research indicates people without a mutation can also have overactivity of LRRK2.
Shake It Up are funding several studies into LRRK2 and you can learn more about these here.GBA
PRKN
When Should Genetic Testing Be Done
Your physician may suggest it if your Parkinsons diagnosis comes at a young age , if multiple relatives in your family history have also been diagnosed with the same, or if you are at high risk for familial Parkinsons based on your ethnicity .
However, what is the benefit of having the testing done at the present time? The information may be important for family planning for some individuals although as I said even if the gene is passed on it does not necessarily equal development of the disease. The risk, though, is higher in dominant genetic mutations versus recessive ones, on average if a person has a first-degree relative with Parkinsons their risk of developing the disease is 4 to 9 percent more than the general population.
Keep in mind that currently for the person being tested, there is no change in the treatment of their Parkinsons disease based on genetic findings. In the future, however, when there are treatments to slow down the onset of the disease or to prevent it from developing at all, then the identification of those people at risk will be very important.
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What Is Parkinsons Disease
Parkinsons disease is a neurodegenerative ailment that affects the Central Nervous System . Tremors, trembling, sluggish movement, balance issues, and stiffness are all symptoms of Parkinsons disease. Parkinsons disease is most commonly found in adults over the age of 60.
Hereditary diseases are those that pass on from one generation to the next through the genes of the parents. A genetic condition can pass down through families, although this is not always the case. Some genetic disorders create by random mutations that pass on from one generation to the next by the parents.
According to recent research, genetic alterations are responsible for some occurrences of Parkinsons disease. The presence of a hereditary etiology for this condition is extremely unusual. Only approximately 10 to 15 percent of persons who have Parkinsons disease have a family history of the disorder, according to research. The cause of Parkinsons disease, on the other hand, is typically unknown.
According to current research, a mix of hereditary and environmental variables may contribute to the development of Parkinsons disease. In this post, well learn more about this condition, as well as ways to avoid it.
Genetics Testing In Parkinson’s Disease
Genetic testing in Parkinson’s disease can play an important role in diagnosing the illness. Scientists hope that the knowledge provided by genetics will ultimately help slow or stop its progression.
Genes are carried in our DNA, units of inheritance that determine the traits that are passed down from parent to child. We inherit about 3 billion pairs of genes from our mothers and fathers. They determine the color of our eyes, how tall we may be and, in some instances, the risk we have in developing certain diseases.
As a physician, I know the role that genetics plays in determining our health. The degree of influence that our genes have varies depending on the disease, but both environmental factors and genetics contribute to the development of illness to some extent.
Andrew Brookes / Getty Images
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Further Testing In Parkinsons
In other situations, where perhaps the diagnosis is not as clear, younger individuals are affected, or there are atypical symptoms such as tremor affecting both hands or perhaps no tremor at all, further testing may help. For example, imaging can play a role in differentiating between essential tremor and Parkinsons. It can also be important to confirm what is initially a clinical diagnosis of Parkinsons prior to an invasive treatment procedure such as surgical DBS
Can Parkinsons Be Passed From Parent To Child
Its rare for Parkinsons disease to be passed down from parent to child. Most cases of Parkinsons arent hereditary. But people who get early-onset Parkinsons disease are more likely to have inherited it.
Having a family history of Parkinsons disease may increase the risk that youll get it. This means that having a parent or sibling with Parkinsons slightly increases the risk.
In most cases, the cause of Parkinsons disease remains unknown. But researchers have identified multiple risk factors that can increase your chances of getting this disease.
Risk factors for Parkinsons disease include:
- mutations in specific genes associated with Parkinsons
- having a family history of Parkinsons or a first-degree family member with Parkinsons
- being older, especially above the age of 60
- exposure to herbicides and pesticides
- being assigned male at birth
- history of brain injury
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