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Is Ms And Parkinson’s Genetic

For Parkinsons Patients Genetic Testing May Open Possibilities

Neurological Disorders Quick Review, Parkinson’s, MS, MG, ALS NCLEX RN & LPN

Physicians have had little incentive to order genetic tests for their Parkinsons disease patients, although evidence suggests that up to 15% of these cases may be genetic.

Mutations in several different genes increase the risk of Parkinsons disease, says Roy N. Alcalay, MD, MS, the Alfred and Minnie Bressler Associate Professor of Neurology at Columbia University Vagelos College of Physicians and Surgeons and a neurologist at NewYork-Presbyterian/Columbia University Irving Medical Center. Until recently, we rarely offered genetic testing for people with Parkinsons because the benefit had been unclear.

But recent studies have shown that genotype can help better estimate the rate of disease progression in Parkinsons. And as new drugs designed for people with specific Parkinsons genes have entered clinical trials , Alcalay realized the calculus has changed.

From our own genetic studies, I realized many people were eligible to enroll in such trials, but they didnt know it because nobody told them about their genetic status, Alcalay says. I wanted to find a simple, ethical way to offer Parkinsons patients information about their genotype if they are interested.

Alcalay, the principal investigator of PDGENEration, talked to the CUIMC Newsroom about how the program may help support the development of personalized therapies for Parkinsons patients.

Why is now the right time to start genetic testing in Parkinsons disease?

What Makes Them Different

MS and Parkinsonâs have different causes. They usually start to affect you at different ages, too.

MS often affects people between ages 20 and 50, but children get it, too. Parkinsonâs usually starts at age 60 or older, but some younger adults get it.

MS is an autoimmune disease. That means your bodyâs immune system goes haywire for some reason. It attacks and destroys myelin. As myelin breaks down, your nerves and nerve fibers get frayed.

In Parkinsonâs, certain brain cells start to die off. Your brain makes less and less of a chemical called dopamine that helps control your movement. As your levels dip, you lose more of this control.

Some genes may put you at risk for Parkinsonâs, especially as you age. Thereâs a small chance that people who are exposed to toxic chemicals like pesticides or weed killers can get it, too.

These symptoms are more common if you have MS. They are not usually found in Parkinsonâs:

  • Dizziness or vertigo, where you feel like the room spins around and you lose your balance

How Therapy Helps Ms And Parkinsons

While there are differences in Parkinsons and MS, physical, occupational and speech therapy can help both MS and PD patients improve their independence and safety, as well as achieve and maintain optimal function and cognition. Therapy can help prevent complications such as de-conditioning, muscle weakness from lack of mobility and muscle contractures related to spasticity. Training in energy conservation techniques and the use of adaptive tools and devices can help simplify everyday tasks. Therapists can even recommend strategic modifications to your home to ensure accessibility and safety even as the disease progresses.

Clinicians certified in LSVT ® and PWR! therapeutic programs can provide Parkinsons-specific exercises to target weight shifting, posture, trunk rotation and stepping strategies to overcome rigidity and slowness of movement. Education on specific exercises and strategies helps increase safety and slow the progression of the disease.

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Parkinsons Disease: The Basics

An estimated 1 million people in the US have been diagnosed with Parkinsons disease , a progressive neurologic disease that can result in disabilities in movement, speech, and thinking over decades. The disease results as cells that produce dopamine, a brain chemical important in transmitting messages related to movement, are destroyed. Recent evidence has shown that other areas of the brain may be involved even before the dopamine neurons are lost. People with the disease are typically diagnosed in their fifties or older, although it can occur in those younger than 30. By the time the first movement-related symptoms appear, it is believed that people have usually had the disease for years.

The primary motor symptoms leading to diagnosis include tremor stiffness of the arms, legs, and trunk slowed movements, called bradykinesia and balance problems. Because there are no blood or imaging tests for PD, you need to be as specific as possible in describing your symptomswhen they began, and how they affect your lifeso your doctor can make the right diagnosis. Researchers are looking for biomarkers to help diagnose the disease earlier, particularly changes in the brain visible with various brain imaging techniques like single photon emission computed tomography and positron emission tomography . But to date, symptoms are still the only way to diagnose the disease.

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Exercise Advice For People With Ms:


In the past, people with multiple sclerosis were advised to avoid exertion. However, it is now known that regular moderate exercise is important to maintain general health and wellbeing. Many people with MS experience fatigue but this will not be made worse with the right type of exercise. Exercise builds up endurance and strength in muscles without increasing fatigue.

The attitude of no pain, no gain does not apply in MS. Our local exercise classes will not push you to exhaustion, the exercises are adapted to your own fitness levels and capabilities.

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Pool Therapy: A Boon For The Healthcare Industry

The topic of healthcare for people of all ages, not merely seniors, is an important one. Its consistently making headlines, especially with the Baby Boomer population reaching retirement age.

Knowing that hundreds of thousands of seniors are going to be diagnosed with Alzheimers, Parkinsons and Multiple Sclerosis each year, senior living facilities with the means to invest in a warm-water pool with integrated treadmill technology would be wise to do so. By keeping their population of patients as active as possible through water-based therapies and exercise options, a facility could make great advances in the field.

Though none of the aforementioned conditions that have been covered has a cure, they can all be managed through a combination of prescription drugs, diet and exercise. HydroWorx aquatic therapy equipment might just wind up being the deciding factor for someone looking for a long-term place to stay during their later decades.

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Incidence And Prevalence: Als Compared With Parkinsons

All neurodegenerative diseases are conditions where there is an impact on the brain and/or the central nervous system.

According to statistics, ALS currently affects around 30,000 people in the USA, with around 6,000 new cases being identified each year.

Parkinsons Disease affects around a million people in America and there are about 60,000 new cases annually.

Famous individuals affected by Parkinsons include Michael J Fox and Scottish comedian Billy Connelly. In terms of ALS, the late Professor Stephen Hawking was one prominent public figure who had been diagnosed with a form of ALS. The late legendary US baseball player Lou Gehrig was also diagnosed with ALS and subsequently the condition has been commonly referred to as Lou Gehrigs disease ever since.

Parkinsons is perhaps a much more well known condition, due to its increased prevalence throughout the world, however ALS has received a lot more attention and awareness since the Ice Bucket Challenge which went viral on social media during the summer of 2014.

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Genes With A Possible Role In Pd

Apart from the genes causing the six monogenic forms of PD, changes in a large number of additional genes were considered PD-causative and identified by linkage analysis or a candidate gene approach. Some of these genes even attained a PARKI designation . However, as discussed in the Genetic Classification of PD section, the link of some of these genes to PD is uncertain and not confirmed. Furthermore, mutations in some PARKs cause PD that is an inconsistent or only a minor feature of a more complex phenotype or are a very rare cause of PD . In addition, mutations in synphilin-1, NR4A2/Nurr1, POLG, mortalin, and recently presenilin-associated rhomboid-like protein were considered pathogenic based on the known function or expression/protein interaction pattern of the proteins they encode. Nevertheless, they too, are now recognized as only a minor contributor to the pool of genetic PD if at all.

Comparing Multiple Sclerosis And Parkinsons Disease Causes

Neurological Disorders: Parkinson’s, MS, MG, ALS

Multiple sclerosis is an autoimmune disease in which the immune system attacks the myelin, causing damage and thus exposing nerve fibers. Like many autoimmune diseases, the exact cause is unknown, but environmental, immunologic, infectious, and genetic factors have all been found to play a role in the onset of multiple sclerosis.

When certain nerve cells in the brain begin to die or break down that is what causes Parkinsons disease, but why this occurs is unclear. Some factors that contribute to nerve cell death include genetics as specific gene mutations have been identified to contribute to Parkinsons disease, environmental factors such as exposure to certain toxins, the presence of Lewy bodies in the brain as well as alpha-synuclein found in Lewy bodies.

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Similarities Between Als And Parkinsons Disease

There are several similarities between these two diseases. Both affect neurons in the body and have a detrimental impact on the motor system, that is, how we move, speak, eat and breathe.

Individuals with ALS can often show Parkinson like symptoms, such as tremors, rigidity and slow movement. Beyond this, however, the ALS vs Parkinsons disease differences tend to be much starker than the similarities.

Understanding Parkinsons And Multiple Sclerosis

Parkinsons disease is a neurological illness that impairs mobility. Symptoms appear gradually, sometimes beginning with a barely noticeable tremor in only one hand. It is one of the worlds most common nervous system disorders, which predominantly affects dopamine-producing neurons in the brain.

Multiple sclerosis, or MS, is a chronic condition that affects the brain, spinal cord, and optic nerves in the eyes. MS occurs when your immune system attacks the myelin, a fatty substance that wraps around your nerve fibers to protect them. Your nerves are injured if you dont have this outer shell and scar tissue might occur. Because of the injury, your brain is unable to convey impulses across your body appropriately. Your nerves will also not work well and it will impair the way you move and feel.

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Benefits Of Inpatient Rehabilitation

Inpatient rehabilitation hospitals are required to provide an interdisciplinary approach to patient caremeaning specialists from many disciplines are involved in creating and implementing a patients care plan. Interdisciplinary team members include physical, speech and occupational therapists, rehabilitation physicians, nurses, case managers, dietitians and pharmacists. Patients participate in three hours of therapy each day for a total of 15 hours per week, and an individualized plan of care is created for each patient to meet their needs while providing necessary intervention to make functional gains. Inpatient rehabilitation can be beneficial for both MS and Parkinsons disease.

Educational sessions with the patient and family members can also improve understanding for all involved in the patients care about the progression of each disease and ways to combat symptoms.

Bethany Moss is a physical therapist at Encompass Health Rehabilitation Hospital of Jonesboro. She is a PWR! certified therapist and a LVST BIG certified clinician.

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When To See A Doctor About Parkinsons

Major genetic study of Multiple Sclerosis reveals DNA hot spots of ...

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:

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Linkage Disequilibrium Score Regression

Linkage Disequilibrium score regression is a method developed by Bulik-Sullivan et al. that determines if the distribution of a test statistic in GWAS is inflated due to confounding biases or polygenicity. The idea behind LDSC is that variants in linkage disequilibrium with a causal variant in an association analysis will show elevated test statistics that are proportional to the LD with the causal variant, while elevations due to confounders like cryptic relatedness or population stratification will not correlate with the LD score. LDSC involves using regression techniques to study the relationship between LD scores and test statistics of SNPs obtained from GWAS studies.

Nalls et al. used LDSC in their GWAS to examine correlations of PD genetics with that of other traits and diseases using data obtained from GWAS available via LD Hub and biomarker GWAS summary statistics on c-reactive protein and cytokine measures. p-values obtained from the LDSC were adjusted for FDR to account for multiple testing. The authors found four significant correlations, two of which were positive correlations with intracranial volume and putamen volume, and two negative correlations with tobacco use and educational attainment.

Genetic And Environmental Interactions

Although several genetic mutations have been identified to be associated with a higher risk of developing Parkinson’s disease most people do not have these genetic variations.

On the other hand, even though pesticides and head traumas are associated with PD, most people do not have any obvious exposure to these environmental factors.

Parkinson’s is caused by a combination of genes, environmental and lifestyle influences. The interaction of all three components determines if someone will develop Parkinson’s. Parkinsons-specific research is critical to better understanding how these components interact to cause PD and how to prevent it.

Page reviewed by Dr. Lauren Fanty, Movement Disorders Fellow at the University of Florida, a Parkinsons Foundation Center of Excellence.

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Stooping Or Hunched Posture

People who have Parkinsons disease may notice changes in their posture due to other symptoms of the disease, such as muscle rigidity.

People naturally stand so that their weight is evenly distributed over their feet. However, people who have Parkinsons disease may start bending forward, making them appear hunched or stooped over.

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Is There A Connection Between The Two

PD GENEration: What We’ve Learned from Parkinson’s Disease Genetic Testing

Researchers have recently begun investigating a possible connection between MS and PD.

In a 2020 case study, researchers note a potential link between MS and PD. They find that people living with MS who have a mutated GBA1 gene may have a higher risk of developing PD. However, it is not clear why this is the case.

According to an earlier 2014 literature review , MS may affect a persons brain tissue and brain structure in a way that triggers the development of PD. Nonetheless, this connection is unlikely to be strong. The study authors note that there are only 34 reported cases of coexisting MS and PD, indicating that it is rare for people to develop both conditions.

More research is necessary to establish any firm connection between MS and PD.

Doctors treat both MS and PD using a combination of medications and therapies.

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Slowing The Development Of Multiple Sclerosis

This table depicts the results of four major studies showing that beginning treatment at the pre-MS stage of the disease, after the first clinically isolated syndrome , extended the time until the MS diagnosis compared to people who were not treated after a CIS.

Multiple Sclerosis: The Basics

Multiple sclerosis is thought to be an autoimmune disease in which immune system cells and inflammatory chemicals damage the myelin sheath that covers nerve cells in the brain and spinal cord. This, in turn, leaves the neurons open to further damage and impairs their ability to communicate, leading to problems with vision, movement, balance, and thinking. Most people are diagnosed in their twenties and thirties. Although studies suggest that about half of people with MS use a cane for walking and 15 percent require a wheelchair 10 years after diagnosis, the disease-modifying drugs used in treatment today can significantly slow the progression of the disease and the development of disability.

Between 250,000 and 350,000 people in the United States, primarily women, have been diagnosed with MS. The disease is likely related to a combination of genetic and environmental causes. People with a family history of the disease have a much higher risk of developing MS themselves.

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Research To Find Msa Biomarkers And An Earlier Msa Diagnosis

An important goal of the Coalitions MSA Research Program is to fund and encourage the development of biomarkers to distinguish PD from MSA at a much earlier stage.The stakes are high.An accurate biomarker could lead to quicker development of treatments.In fact, a concern in past clinical trials of MSA treatments that failed is that maybe the patients in the trial are too late stage to show effectiveness.Increasing the number of known early stage MSA patients could improve the likelihood of finding treatments and even a cure.

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Myth : Deep Brain Stimulation Is Experimental Therapy

Fact: Deep brain stimulation, or DBS, is a procedure in which doctors place electrodes in the brain at the point when medications are less effective in masking motor symptoms, such as tremor, stiffness and slowness of movement.

While it may sound frightening and futuristic, its been around and successfully used for decades. DBS works very similarly to a pacemaker, except the wire is in the brain, not in the heart. Its been a standard procedure for the past two decades.

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Myth : Parkinsons Disease Is Fatal

MS and Parkinsons: Is There a Link?

Fact: Although a diagnosis of Parkinsons is devastating, it is not as some people may still believe a death sentence. Parkinsons disease is not a direct killer, like stroke or heart attack. That said, much depends on the quality of your care, both from your medical team and yourself.

As the disease progresses, you may become more vulnerable to falls, which can be dangerous. Thats why exercise and physical therapy are so important.

Infection is another problem. In later stages of Parkinsons, people often miss those signals and may not notice somethings up until its too late. That can be, literally, a killer so be sure to stay up to date with checkups.

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