Key Gene Mutations Associated With Parkinson’s
There are forms of Parkinson’s that appear to be influenced by genetic defects that run in families. We tend to see this with early-onset forms of the disease wherein symptoms being to appear far earlier than average onset age of 60.
One type of genetic mutation associated with familial parkinsonism is in the so-called SNCA gene. This is the gene linked with the production of alpha-synuclein protein, a biomolecule which can contribute to abnormalities in nerve cells. While rare in the general population, the SNCA gene mutation has been identified in around two percent of families affected by Parkinson’s.
In 2004, scientists discovered a similar genetic mutation in a number of families in whom multiple members had been affected. The so-called LRRK2 mutation is today linked to about one to two percent of all Parkinson cases, mostly affecting people of Jewish, Ashkenazi, North African Arab-Berber, or Basque origin.
Another mutation involving the GBA gene is already known to cause Gaucher’s disease . Research has since shown that the GBA mutation is present in a significant number of people with Parkinson’s, suggesting a causal link between the mutation and the disease.
Changes In The Family
You may see little or no change in your parent, grandparent or family member after they find out they have Parkinsons. But they may have to rest often and they will do things more slowly than they used to, like walking and talking.
This can be frustrating for them and they may express that. At some point they may become upset, short-tempered and tired.
How My Father’s Parkinson’s Diagnosis Made My Family Stronger
I was in my early teens and in the “I-hate-this” phase. While having another argument over what I assume was trivial, I said “I hate you” to my parents. My mom responded, “you’d be lucky if you wind up half the man your father is!” I haven’t the slightest idea of what we were arguing about, but it had something to do with him.
It’s a decade later, and my father has Parkinson’s disease he’s run three New York City Marathons, a few halfs, and numerous five and ten kilometer events. He didn’t have to do any of that for what my mom said to be true. In fact, I’ve been impressed by my dad since I was a kid. He’s easily the most driven person I have ever known. Nothing shakes him, nothing deters him, and he never quits. And honest to God, I can’t think of a single moment when he has complained. He is a perpetual motion machine.
Hard work is something we all must do at some point or another. What my dad taught me was that working hard is something to be proud of, not hindered by. He worked the longest weeks for the better part of 23 years, paving 300 degree asphalt up and down the Hudson Valley. I imagine he would have liked me to choose something a bit easier instead I chose to be a chef. Hint: it’s not any easier. But because of him I relish that fact. I’m guilty of some bitching and moaning of course — we can’t all be Michael Kelly Sr. But when I complete a grueling week filled with sweat, blood, and the unmistakable aroma of a worn-for-13-hours shoe, I feel complete.
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How Is It Diagnosed
Diagnosing Parkinson’s disease is mostly a clinical process, meaning it relies heavily on a healthcare provider examining your symptoms, asking you questions and reviewing your medical history. Some diagnostic and lab tests are possible, but these are usually needed to rule out other conditions or certain causes. However, most lab tests aren’t necessary unless you don’t respond to treatment for Parkinson’s disease, which can indicate you have another condition.
Parkinsons Symptoms: What To Expect
Parkinsons symptoms vary from person to person. Sometimes, early symptoms of PD may be dismissed as normal effects of aging, according to the National Institute on Aging. The onset of Parkinsons in the elderly may be subtle slower movements, impeded coordination, and mild tremors may not be particularly noticeable at first. Symptoms often begin on one side of the body but will likely come to affect both sides as the disease progresses.
Some symptoms of Parkinsons may include the following:
- Trouble swallowing, chewing, and speaking
- Sleep disruption
Parkinsons symptoms by stage
During the early stages of the disease, Parkinsons symptoms are often mild and dont interfere much with daily life. For this reason, diagnosis may be delayed, according to Cleveland Clinic. As PD progresses, symptoms become worse. In the middle stages, balance problems and falls become more common, and tremors may increase. While people can remain generally independent, activities of daily living can become more difficult.
For someone living with Parkinsons, help at home eventually may be necessary, as standing and walking may become harder over time. By the time PD reaches its later stages, dementia, hallucinations, and delusions are likely. Most people cant move independently when the disease reaches that point, and full-time nursing or family care becomes required.
Read Also: What Medications Can Cause Parkinson’s
When To See A Doctor About Parkinsons
There isnt one specific test to diagnose Parkinsons disease. Doctors will usually evaluate your symptoms and perform several tests to determine if you have the condition. If you notice the following early warning signs, then you should see a doctor.
The early warning signs of Parkinsons disease include:
Trial And Error Of Parkinson’s
I’ve learned a lot about Parkinson’s since 2002. Mostly through trial and error. I learned that in many cases, I had to ask for certain types of care. My doctors did not offer physical therapy or mental health therapy unless I asked. I do not want my Dad’s treatment to suffer because he doesn’t know the questions to ask or because he can’t articulate his symptoms.
So, when he had sleep problems, we made an appointment with a Sleep Neurologist. When he began to have vision problems, we pressed the ophthalmologist to look beyond normal aging and understand the symptoms in the context of Parkinson’s. When he started to have pain from stiffness, we asked for a prescription to physical therapy.
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What Other Factors Cause Alzheimers Or Dementia
People with no trace of the ApoE gene can still develop dementia and Alzheimers. There are other risk factors which doctors believe contribute to these conditions. They include:
Fortunately, all of these lifestyle factors can be addressed to counter the onset of Alzheimers and dementia. Strategies for preventing the onset of cognitive disease will vary with every individual, but clinical research continues to indicate that healthy lifestyles can make our brains more resilient.
Research Into Genes And Parkinsons
Our major effort now is understanding how mutations in these genes cause Parkinsons disease, says Dawson. SNCA, the gene responsible for making the protein that clumps in the brain and triggers symptoms, is particularly interesting.
Our research is trying to understand how alpha-synuclein works, how it travels through the brain, says Dawson. The latest theory is that it transfers from cell to cell, and our work supports that idea. Weve identified a protein that lets clumps of alpha-synuclein into cells, and we hope a therapy can be developed that interferes with that process.
Read Also: Can Parkinsons Be Managed Without Medication
Genetic Role Not Entirely Known In Affected Families
Genetics very likely plays a role in all types of Parkinsons disease. However, while having a specific combination of genetics may increase your risk of the disease, it doesnt necessarily mean that youll get it.
Around 15 to 25 percent of people living with Parkinsons have a family history of the condition, either an immediate or second-degree relation. Having one or more of these relatives will place you at slightly higher risk for Parkinsons, but its still no guarantee youll develop the disorder.
Conversely, if you have Parkinsons, it shouldnt suggest that any of your kids or grandkids will get the disease either. It merely indicates that their risk is slightly above those without a family history.
In the end, most cases of Parkinsons dont have any known cause . While there are forms that seem to run in families, these account for a small percentage of cases roughly five to 10 percent, all told.
Read Also: Signs Of Parkinsons Disease
What Medications Are Used To Treat Parkinsons Disease
Medications are the main treatment method for patients with Parkinsons disease. Your doctor will work closely with you to develop a treatment plan best suited for you based on the severity of your disease at the time of diagnosis, side effects of the drug class and success or failure of symptom control of the medications you try.
Medications combat Parkinsons disease by:
- Helping nerve cells in the brain make dopamine.
- Mimicking the effects of dopamine in the brain.
- Blocking an enzyme that breaks down dopamine in the brain.
- Reducing some specific symptoms of Parkinsons disease.
Levodopa: Levodopa is a main treatment for the slowness of movement, tremor, and stiffness symptoms of Parkinsons disease. Nerve cells use levodopa to make dopamine, which replenishes the low amount found in the brain of persons with Parkinsons disease. Levodopa is usually taken with carbidopa to allow more levodopa to reach the brain and to prevent or reduce the nausea and vomiting, low blood pressure and other side effects of levodopa. Sinemet® is available in an immediate release formula and a long-acting, controlled release formula. Rytary® is a newer version of levodopa/carbidopa that is a longer-acting capsule. The newest addition is Inbrija®, which is inhaled levodopa. It is used by people already taking regular carbidopa/levodopa for when they have off episodes .
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What Is Parkinsons Disease
Parkinsons disease is a condition where a part of your brain deteriorates, causing more severe symptoms over time. While this condition is best known for how it affects muscle control, balance and movement, it can also cause a wide range of other effects on your senses, thinking ability, mental health and more.
Anticholinergics For Early On
The first pharmacological agents used in PD therapy were anticholinergic drugs. They reduce the activity of acetylcholine by acting as antagonists at choline receptors, hoping to restore the balance between dopamine and acetylcholine levels that was disturbed by PD. These drugs have largely been replaced by L-DOPA and other centrally acting dopaminergic agonists, but they still remain available for use in the treatment of PD. Benztropine, biperiden, diphenhydramine, ethopropazine, orphenadrine, procyclidine, and trihexyphenidyl are included in this therapeutic class of drugs, though there is little pharmacokinetic information available on them because of their low plasma drug concentrations. Typically, anticholinergic drugs have a greater role in tremor-predominant PD and can be a monotherapy in early stages, but are usually done in adjunct with L-DOPA or other prescribed medications.
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Genetic Testing Cannot Tell You If You Will Or Will Not Get Parkinsons
Parkinson’s is not linked to any single gene mutation that causes disease 100 percent of the time. If you do test positive for a PD-linked mutation, it does not mean you will absolutely get Parkinson’s. There are actions you can take, such as exercise, to lower risk. Conversely, if you test negative for a PD-linked mutation, you may still develop Parkinson’s. Other mutations and factors such as aging and environmental causes also contribute to risk. Science is working to better understand who does get Parkinson’s and why.
What Tests Will Be Done To Diagnose This Condition
When healthcare providers suspect Parkinsons disease or need to rule out other conditions, various imaging and diagnostic tests are possible. These include:
- Blood tests .
- Positron emission tomography scan.
New lab tests are possible
Researchers have found possible ways to test for possible indicators or Parkinsons disease. Both of these new tests involve the alpha-synuclein protein but test for it in new, unusual ways. While these tests cant tell you what conditions you have because of misfolded alpha-synuclein proteins, that information can still help your provider make a diagnosis.
The two tests use the following methods.
- Spinal tap. One of these tests looks for misfolded alpha-synuclein proteins in cerebrospinal fluid, which is the fluid that surrounds your brain and spinal cord. This test involves a spinal tap , where a healthcare provider inserts a needle into your spinal canal to collect some cerebrospinal fluid for testing.
- Skin biopsy. Another possible test involves a biopsy of surface nerve tissue. A biopsy includes collecting a small sample of your skin, including the nerves in the skin. The samples come from a spot on your back and two spots on your leg. Analyzing the samples can help determine if your alpha-synuclein has a certain kind of malfunction that could increase the risk of developing Parkinsons disease.
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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.
Parkinsons Disease Is A Progressive Disorder
Parkinsons Disease is a progressive neurodegenerative disorder that primarily affects movement and, in some cases, cognition. Individuals with PD may have a slightly shorter life span compared to healthy individuals of the same age group. According to the Michael J. Fox Foundation for Parkinsons Research, patients usually begin developing Parkinsons symptoms around age 60 and many live between 10 and 20 years after being diagnosed. However, a patients age and general health status at onset factor into the accuracy of this estimate. Age is the greatest risk factor for this condition, but young-onset Parkinsons disease, which affects people before age 50, accounts for between 10 and 20 percent of PD cases.
While there is no cure for Parkinsons disease, many patients are only mildly affected and need no treatment for several years after their initial diagnosis. However, PD is both chronic, meaning it persists over a long period of time, and progressive, meaning its symptoms grow worse over time. This progression occurs more quickly in some people than in others.
Pharmaceuticals and surgical interventions can help manage some of the symptoms, like bradykinesia , rigidity or tremor , but not much can be done to slow the overall progression of the disease. Over time, shaking, which affects most PD patients, may begin to interfere with activities of daily living and ones quality of life.
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Common Questions From Parkinsons Caregivers
Caregivers, or care partners, share so many of the struggles of Parkinsons disease and are so vital in helping those with PD meet their challenges and live their best lives. Care partners are often the ones to notice when a symptom has changed, to cajole their partners to improve their lifestyles, to encourage their partners to follow doctors orders, to investigate the newest treatments in short, to act as another set of eyes and ears along the PD journey. Not surprisingly therefore, care partners ask many of the questions sent to us by our readers. This week I will address some of these common questions.
Medication Not Working The Way It Used To
In the early stages, taking medicine works well to get rid of symptoms. But as Parkinsons progresses, your medication works for shorter periods of time, and symptoms return more easily. Your doctor will need to change your prescription.
Dr. Valerie Rundle-Gonzalez, a Texas-based neurologist, says to pay attention to how long your medicine takes to kick in and when it stops working. She says you should feel like symptoms significantly improve or are almost gone while on medication.
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Ask The Doctor/q& a With Dr Rebecca Gilbert
My Dad had Parkinsons disease, and I just learned that my Grandma his mother also had PD. I do not currently have any symptoms of PD, but should I get genetic testing?
This is actually a very complicated question, as there are a number of genes that have been associated with PD, but most people with PD do not have one of the currently identified genetic mutations. If someones father and paternal grandmother have PD, that makes it more likely that an identifiable genetic mutation is involved, although you might not have inherited it. In addition, most PD mutations have what is called reduced penetrance, which means that only a subset of people who inherit the mutation actually manifest the disease. Currently, it is not standard of care for someone who does not have any symptoms of PD to get genetic testing.
For someone who already has PD, the answer about whether to get genetic testing may be different. There are clinical trials that are ongoing now and others that are set to start which are investigating treatment of PD in people who carry specific mutations. Genetic testing of potential participants in the trials is therefore necessary. If one of these trials is successful in treating PD associated with a specific genetic mutation, that will of course change the whole landscape of genetic testing for PD and make it much more widespread.
Since the topic is not straightforward, I wrote a blog addressing it which you may find helpful. You can read it here.