Is Parkinsons Disease Inherited
Scientists have discovered gene mutations that are associated with Parkinsons disease.
There is some belief that some cases of early-onset Parkinsons disease disease starting before age 50 may be inherited. Scientists identified a gene mutation in people with Parkinsons disease whose brains contain Lewy bodies, which are clumps of the protein alpha-synuclein. Scientists are trying to understand the function of this protein and its relationship to genetic mutations that are sometimes seen in Parkinsons disease and in people with a type of dementia called Lewy body dementia.
Several other gene mutations have been found to play a role in Parkinsons disease. Mutations in these genes cause abnormal cell functioning, which affects the nerve cells ability to release dopamine and causes nerve cell death. Researchers are still trying to discover what causes these genes to mutate in order to understand how gene mutations influence the development of Parkinsons disease.
Scientists think that about 10% to 15% of persons with Parkinsons disease may have a genetic mutation that predisposes them to development of the disease. There are also environmental factors involved that are not fully understood.
Blood Test For Parkinson’s: Study Details
When brain cells die, Nagele says, they explode ”like a water balloon breaking.”
The contents of those dying cells spill partially back into the blood. “Their debris is released and your body will sense it and develop autoantibodies to clear that debris,” he says.
The new test looks for these autoantibodies in the blood specific to the disease. The researchers narrowed down a list of more than 100 of these autoantibodies to 10 that looked most promising. When these antibodies rise to a certain level, it signals disease, Nagele says.
To evaluate the Parkinson’s test, Nagele’s team looked at more than 150 blood samples, including:
- Twenty-nine from patients with confirmed Parkinson’s disease
- Fifty from Alzheimer’s disease patients
- Ten from multiple sclerosis patients
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Validating A New Biomarker
Hansson and his colleagues developed a blood test that is, essentially, a variation on an existing test capable of detecting neurofilament light chain protein in spinal fluid. This protein is a component of nerve cells, and when these cells die, it can be detected in both spinal fluid and blood.
Because spinal fluid is not easily obtained by a primary care doctor, this diagnostic test is not very useful, so Hansson developed a blood test and investigated its accuracy in the new study.
When validating a new biomarker for disease, one should always analyze at least two different to make sure that the results are reproducible, said Hansson, who added that participants should also include both early- and late-stage patients established at different clinics.
All told, a total of 244 people with Parkinsons and 79 healthy volunteers serving as a comparison group participated in Hanssons study, along with 181 patients with atypical parkinsonism disorders.
Of these, 88 patients had multiple system atrophy, which impairs the bodys involuntary functions such as heart rate, blood pressure and digestion.
Seventy patients had progressive supranuclear palsy, which affects movement, walking, balance, speech, swallowing, vision, mood and thinking.
And 23 patients had corticobasal degeneration, which causes decreased movement on one side of the body, muscle rigidity, tremor and a disconnection between thought and action.
The Test Could Eventually Help Provide More Precise Diagnoses For People With Movement Disorders Such As Parkinsons Disease
Researchers at UCLA Health have developed a blood test that can distinguish between two very similar movement disorders, Parkinsons disease and multiple system atrophy . The test, which is currently for research use only, identifies the disease by analyzing the contents of tiny sacs called exosomes that are sent out by brain cells and wind up in the blood.
The researchers report their findings in this months Acta Neuropathologica.
Parkinsons disease can be difficult to distinguish from other neurodegenerative diseases, including MSA, due to similar symptoms such as muscle rigidity and tremors. Patients who have been incorrectly diagnosed with one or the other disease may feel anxiety when unexpected symptoms occur, or, in the case of a Parkinsons misdiagnosis, the disease progresses faster than predicted.
If they do have Parkinsons, there are a lot of treatments that can help with the symptoms for a long time, says Gal Bitan, professor of neurology at the David Geffen School of Medicine at UCLA. If they have MSA, which is a very aggressive disease that leads to rapid deterioration, they would want to prepare. They would want to talk with loved ones, and possibly take care of their estate.
Both Parkinsons and MSA patients had elevated alpha-synuclein, but in Parkinsons it mostly came from neurons, while in MSA it came from oligodendrocytes. The researchers could tell the two diseases apart with high accuracy.
Caroline Seydel is the author of this article.
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Looking For Signs Of Parkinsons
Your specialist will examine you to look for common signs of Parkinsons. You may be asked to:
- write or draw to see if your writing is small or gradually fades
- walk to see whether theres a reduction in the natural swing of your arm or in your stride length and speed
- speak to see if your voice is soft or lacks volume
The specialist will also look at and ask you about your:
- face to see if there is a masked look or if you have difficulty with facial expressions
- limbs to see if you have a tremor, any stiffness or slowness of movement
As well as examining you for any of the typical signs of Parkinsons, the specialist will also look for signs that may suggest a different diagnosis.
It may be helpful to take someone with you for support when seeing a specialist. Taking a list of questions you want to ask can also be useful so you dont forget to mention something you want to know about. If a healthcare professional says something you dont understand, dont be afraid to ask them to explain what they mean.
Causes Of Parkinsons Disease
The cause of Parkinsons disease is unknown, but the disease occurs when the dopamine levels in the brain drop. Dopamine is the chemical in the brain that tells other areas of the brain when and how to move. Factors that can play a role in the development of Parkinsons disease include:
- Genes in rare cases where multiple family members have Parkinsons disease, patients may have a genetic mutation that can cause Parkinsons disease. In other cases, there are several genetic mutations that can increase your risk of developing Parkinsons.
- Environment environmental factors such as extended exposure to Agent Orange, herbicides, pesticides, fungicides and metals or leads used in factories could also play a role in causing Parkinsons disease.
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What Is Essential Tremor And How Is It Different To A Parkinsons Tremor
A tremor is a rhythmical, involuntary movement that affects a part of the body, such as the hand.
Essential tremor is the most common type of tremor. Its most noticeable when your hands are doing something and it usually affects both the right and left sides of the body equally. Essential tremors often lessen when your body is resting.
Unlike an essential tremor, a Parkinsons tremor is most obvious when the affected body part is resting and tends to be less noticeable with movement. It usually starts on one side of the body and may progress to the other side as Parkinsons develops.
The time it takes to get a diagnosis can vary from person to person. Some people may receive a diagnosis of Parkinsons quite quickly, but for others it may be a long process. This can be due to a number of things, including your medical history, your age and what symptoms you have.
Your specialist may wish to rule out other causes of your symptoms first and see how you respond to treatment. This may take some time, and, as already mentioned, there is currently no definitive test for Parkinsons.
How you respond to treatment may help your specialist make a diagnosis. Keeping a diary or record of your symptoms will give the specialist more information to guide their decision.
Because the symptoms of Parkinsons are sometimes similar to other forms of parkinsonism, people can sometimes be misdiagnosed.
Referral To A Specialist
If your GP suspects Parkinson’s disease, you’ll be referred to a specialist.
This will usually be:
- a neurologist, a specialist in conditions affecting the brain and nervous system
- a geriatrician, a specialist in problems affecting elderly people
The specialist will most likely ask you to perform a number of physical exercises so they can assess whether you have any problems with movement.
A diagnosis of Parkinson’s disease is likely if you have at least 2 of the 3 following symptoms:
- shaking or tremor in a part of your body that usually only occurs at rest
- slowness of movement
- muscle stiffness
If your symptoms improve after taking a medication called levodopa, it’s more likely you have Parkinson’s disease.
Special brain scans, such as a single photon emission computed tomography scan, may also be carried out in some cases to try to rule out other causes of your symptoms.
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How Is Parkinsons Disease Treated
There is no cure for Parkinsons disease. However, medications and other treatments can help relieve some of your symptoms. Exercise can help your Parkinsons symptoms significantly. In addition, physical therapy, occupational therapy and speech-language therapy can help with walking and balance problems, eating and swallowing challenges and speech problems. Surgery is an option for some patients.
Mayo Clinic Q And A: Diagnosing Parkinsons Disease
DEAR MAYO CLINIC: My mother was recently diagnosed with Parkinsons, but she doesnt have many symptoms. I would like her to get a second opinion. Is there a blood test that can determine if the diagnosis is accurate?
ANSWER: Theres no one test that can be used to diagnose Parkinsons disease. Instead, the diagnosis is based on a persons medical history and symptoms, along with a neurological and physical exam. If your mother has doubts about her Parkinsons diagnosis, getting a second opinion from a neurologist who specializes in the disease would be reasonable.
Parkinsons disease is a progressive disorder of the nervous system that affects movement. In people who have this disease, certain nerve cells in the brain, called neurons, gradually die.
Many Parkinsons symptoms are related to the loss of brain neurons that produce a chemical messenger called dopamine. Loss of dopamine can lead to a variety of symptoms. Those symptoms can vary widely from person to person. Parkinsons develops slowly over time. In the diseases early stages, symptoms may be very mild and barely noticeable.
Parkinsons typically impairs a persons normal spontaneous body movements, such as blinking, smiling or swinging the arms while walking. The loss of dopamine that happens in Parkinsons may sometimes trigger sleep disorders, panic attacks, anxiety or insomnia.
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Treatment Of Parkinsons Disease
There is not a cure for Parkinsons disease. The goal of treatment is to maintain quality of life and reduce the severity of symptoms. At Mercy Health, a team of specialists including neurologists, neurosurgeons, social workers, speech pathologists, physical therapists, dietitians and internists who work together to treat Parkinsons disease.
A common treatment for Parkinson’s disease in deep brain stimulation. Deep brain stimulation is a neurological procedure used to treat late-stage Parkinsons disease patients who are not responding to medications. Goals of the procedure are to reduce symptoms such as tremors, rigidity, stiffness, slowed movement and walking problems.
During the procedure, a lead is placed in the area of the brain that is causing your symptoms. The lead is attached to a pulse generator that is implanted in the chest. The pulse generator sends signals to the brain that block the nerve signals that cause Parkinsons disease symptoms.
Medication for treating Parkinson’s disease
The other most common type of treatment for Parkinson’s disease is medication. There are a variety of medications that may be used to treat Parkinsons disease. Parkinsons disease medications include:
Over time, medications may become less effective in treating the condition and may have to be used in conjunction with other medications. Or, dosages may have to be titrated up or down depending on symptoms.
What Should You Know About At
Genetic tests are not a substitute for a Parkinson’s diagnosis. Most at-home genetic tests do not provide genetic counseling services to help interpret the results. Always consult with a genetic counselor and your doctor before and after taking a genetic test. Most at-home genetic tests check for a limited number of gene mutations associated with Parkinson’s. This can be misleading since these tests may not be comprehensive.
Since scientists are still discovering more PD-associated genes, it is important to consult your doctor about comprehensive genetic testing options, like the PD GENEration study, which provides a free comprehensive genetic test identifying all possible variants in the two most common PD genes.
Even if you or a loved-one test positive for a Parkinson’s gene, it does not mean either of you will develop it. Having a genetic mutation only means that you may be at increased risk to develop PD. Environmental factors and lifestyle choices will help determine whether someone will get Parkinson’s.
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New Diagnostic Standards For Parkinsons
Until recently, the gold-standard checklist for diagnosis came from the U.K.s Parkinsons Disease Society Brain Bank. It was a checklist that doctors followed to determine if the symptoms they saw fit the disease. But thats now considered outdated. Recently, new criteria from the International Parkinson and Movement Disorder Society have come into use. This list reflects the most current understanding of the condition. It allows doctors to reach a more accurate diagnosis so patients can begin treatment at earlier stages.
Response To Parkinsons Drugs
After examining you, and depending on the severity of your symptoms, your specialist may suggest you take medication for Parkinsons. If your symptoms improve after taking Parkinsons medication for a few weeks or months, your specialist may confirm a Parkinsons diagnosis. However, some people with other forms of parkinsonism will also respond well to these drugs.
Your specialist may suggest you have a scan to help make a diagnosis. However, scans alone cant make a definite diagnosis of Parkinsons, so they are not commonly used.
Blood Test May Help Distinguish Parkinsons From Similar Diseases
Researchers have found that people with Parkinsons disease have lower levels of a certain protein in their blood than people with similar diseases. The results suggest that testing for the protein might help doctors to accurately differentiate between PD and similar diseases early on. The study appears in the February 8 online edition of Neurology.
Because there are no definitive diagnostic tests for Parkinson’s, the diagnosis can be unclear especially early on in the disease. When diagnosis is uncertain, some people may be diagnosed with parkinsonism,” which refers to a category of diseases, including Parkinson’s, that cause slowness of movement, stiffness and rest tremor. Other diseases in the category include multiple system atrophy , progressive supranuclear palsy and corticobasal degeneration .
Earlier studies found that a spinal fluid test may help distinguish PD from these other diseases, but this test is difficult to do during a routine visit to the doctor.
- Blood levels of NfL protein were generally lower in people with PD and in healthy individuals than in people with other Parkinsonian disorders.
- This result held both for those recently diagnosed and those who had been living with their disease for four to six years.
- The test for NfL could not distinguish between MSA, PSP and CBD.
What Does It Mean?
Hansson O, Janelidze S, Hall S, et al. . Blood-Based NfL: A Biomarker for Differential Diagnosis of Parkinsonian Disorder. Neurology 88: 1-8
Risk Factors For Parkinsons Disease
- Age people over 60 years old are more likely to develop Parkinsons disease, and the risk increases as people age.
- Gender men are more likely to develop Parkinsons disease than women.
- Family history if you have a family history of Parkinsons disease, you are more likely to develop it yourself.
- Exposure to toxins research has linked herbicides or pesticides to an increased risk of developing Parkinsons disease.
- Race Caucasians are more likely to develop Parkinsons disease.
- Living in a rural location people who live in a rural location are more likely to develop Parkinsons.
Testing For Parkinsons Disease
There is no lab or imaging test that is recommended or definitive for Parkinsons disease. However, in 2011, the U.S. Food and Drug Administration approved an imaging scan called the DaTscan. This technique allows doctors to see detailed pictures of the brains dopamine system.
A DaTscan involves an injection of a small amount of a radioactive drug and a machine called a single-photon emission computed tomography scanner, similar to an MRI.
The drug binds to dopamine transmitters in the brain, showing where in the brain dopaminergic neurons are.
The results of a DaTscan cant show that you have Parkinsons, but they can help your doctor confirm a diagnosis or rule out a Parkinsons mimic.
Blood Test May Distinguish Parkinsons From Multiple System Atrophy
A highly sensitive and specific blood test has been developed that can distinguish Parkinsons disease from multiple system atrophy , a team at the University of California, Los Angeles Health reported.
The test examines the levels of a protein called alpha-synuclein in exosomes tiny vesicles released by cells that end up in the blood. In Parkinsons, alpha-synuclein comes from neuron-derived exosomes, while in MSA it comes from exosomes released by oligodendrocytes, another type of brain cell.
Based on the content and origin of the exosomes, this test can help discriminate between Parkinsons disease and MSA.
This is a major breakthrough, because it allows us to analyze whats going on in the brain using a blood test, Gal Bitan, PhD, the studys senior author and a professor of neurology at the David Geffen School of Medicine at UCLA, said in a university press release.
The study, -Synuclein in blood exosomes immunoprecipitated using neuronal and oligodendroglial markers distinguishes Parkinsons disease from multiple system atrophy, was published in Acta Neuropathologica.
Parkinsons and neurodegenerative diseases such as MSA have several symptoms in common, including muscle rigidity and tremors. Because of this overlap in symptoms, many cases are misdiagnosed.
Incorrect diagnoses can also affect clinical trial results, as potential treatments would be tested in people without the disorder under evaluation.
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