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.
Parkinsons Disease and Movement Disorders Center
Our center provides compassionate and timely treatment to patients with movement disorders, such as dystonia, ataxia, essential tremor and similar conditions. But our mission goes beyond patient care excellence. By offering educational events and support groups, we empower patients and caregivers to become better partners in their health.
Symptoms Of Parkinsons Disease In Women
In general, women with PD have similar motor and non-motor symptoms as men with PD. More women experience tremor and painful early morning muscle contractions than men. Other symptoms include:2,5
- Tremor of the hands, arms, legs, or face
- Rigidity of the limbs and trunk
- Slowness of movement
- Difficulties with urination or constipation
Although PD symptoms are highly individual, some studies have found small differences in how symptoms appear in women versus men.
One study from the Netherlands found that women experienced more tremor than men .6 Some small studies suggest that women score better on tests for motor abilities and mental processes than men. Women are also more likely to have depression and to report problems with daily living, cardiovascular disease, and fatigue. Men experience higher rates of sleep disorders than women.3
Parkinsons Affects People In Different Ways And It Can Seem Like No Two People Have Exactly The Same Symptoms But Did You Know That Symptoms Can Be Influenced By Genetics
Genetics in Parkinsons is a complicated affair. For the vast majority of people, the condition has not been inherited and is often referred to as idiopathic Parkinsons. However, in some people, genetic changes can influence the risk of developing the condition as well as the type of symptoms experienced.
To understand how genetics impacts on Parkinsons, first we have to learn a little more about how we inherit genes and some of the patterns that are important in inherited conditions.
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Overcoming Parkinson’s Disease Denial
Overcoming Parkinson’s Disease Denial
Imagine going to the doctor because you are suffering from a slew of odd symptoms that youve never experienced before shaky hands, body stiffness, slowed movement and more. Your primary care physician recommends you visit a neurologist, which increases your anxiety. After multiple tests, you leave with a diagnosis of Parkinsons disease, a chronic disorder that can greatly affect your quality of life.
This scenario is all too real for more than 200,000 people each year in the United States. Unfortunately, instead of pursuing the necessary treatment following the diagnosis, many of these people go into denial and refuse to accept the truth of their new health condition.
Genetic Testing May Lead To A Cure
Although genetic testing can leave individuals with many unanswered questions, the data provided may further the study of the disease.
The more individuals you can work, the more things you can discover, says Cannon. We are interested in studying people who have a risk gene because the sooner we can learn how to stop it , the better off people will be.
Clinical trials are in progress to test therapies that target gene mutations, in particular GBA and LRRK2. Pharmaceutical companies conducting these studies need patients who test positive for specific gene variations. By getting tested, individuals have a chance to participate in research programs that may lead to a cure.
Gilbert points out that drugs that target specific mutations may benefit a larger group of Parkinsons patients.
The biochemical problem that happens when a person has an LRRK2 mutation might appear in someone else without an LRRK2 mutation but by another means, she says. So they may also benefit from medication developed for people with an LRRK2 mutation.
If you are interested in participating in a trial, the Michael J. Fox Foundation;offers a roundup of the latest investigations currently being conducted and how to get involved.
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Parkinsons Disease: The Stages
Parkinsons is characterized principally by two main stages: presymptomatic and symptomatic.
The presymptomatic stage is usually characterized by the loss of dopaminergic neurons from the substantia nigra. It is not clear when this stage begins nor what percentage of dopaminergic neurons are lost.
It is also difficult to determine precisely when the symptomatic stage begins and identify the early symptoms of Parkinsons disease .
The symptomatic stage can, in turn, be divided into two parts: early stage and late stage. The early stage is characterized by the onset of the motor symptoms of Parkinsons and usually by the loss of about 70% of the dopaminergic neurons of the substantia nigra. The late stage consists of the disease progression, when symptoms becoming more severe, often causing significant disruption in daily activities.
The progression of the disease is unique in each case, with primary motor symptoms varying from patient to patient.
Parkinsons disease symptom statistics:
- 70% of cases involve resting tremor, especially in patients suffering from Juvenile Parkinsons.
- 89-99% of patients are affected by rigidity, 77-98% by bradykinesia, and 37% by balance impairments.
- 72-75% of patients exhibit disease onset on one side only.
There are therefore different forms of Parkinsons. Some exhibit all of the cardinal signs, while some exhibit only tremor and others only akinesia or rigidity.
Stage 1
Stage 2
Stage 3
Stage 4
Stage 5
Recessive And Dominant Genetic Conditions
Eye colour is, in reality, a little more complex than this, but some diseases work in this way. For instance, cystic fibrosis is a recessive genetic condition that only affects people if they inherit two copies of the faulty gene.
As we can see in the diagram, if a person has one faulty gene they are not affected but are a carrier.
Should a carrier have a child with another carrier that child would have a 1 in 4 chance of inheriting cystic fibrosis.
Family trees of those with recessive condition tend to have characteristic patterns based on these probabilities, but can be very complicated as it is hard to identify unaffected carriers.
Human diseases can also be caused by dominant genes. One example of this is Huntingtons where inheriting a single version of the faulty gene is sufficient to cause the condition. The pattern within a family tree left by dominant genetic traits or conditions is somewhat easier to identify at least half of all the children of someone with a dominant inherited condition, who has children with someone without the condition, will also have the condition.
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Can Frontotemporal Dementia Be Inherited
Sometimes, yes. FTD is relatively rare compared with Alzheimers disease or vascular dementia, but it can be passed on directly from parent to child. A diagnosis of FTD can therefore cause a great deal of worry to someone who has children or grandchildren.;
Most FTD is not directly inherited, but about 40 per cent of people who develop the condition will have at least one close relative diagnosed with some kind of dementia. This can include FTD, Alzheimers disease or amyotrophic lateral sclerosis . In general, the greater the number of relatives who have had dementia particularly FTD or ALS the greater the chances of developing familial FTD.
Of the different types of FTD, the behavioural form is the one that is inherited most often. The type of FTD which starts as primary progressive aphasia is only rarely inherited.
There are lots of different genes causing familial FTD, each with its own pattern of inheritance. If you are concerned about either passing on an FTD gene or inheriting the disease from your parents, you can ask your GP to refer you to a genetic testing service in your area. These people are specially trained to guide you through the process of finding out whether you have a gene that causes FTD. You can also get in touch with a specialist support group at Rare Dementia Support, who can provide information and advice about how to cope with having a heritable form of FTD in your family.
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 Parkinsons, 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 Parkinsons, 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.
Results
- 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?
References
Hansson O, Janelidze S, Hall S, et al. . Blood-Based NfL: A Biomarker for Differential Diagnosis of Parkinsonian Disorder.;Neurology;88: 1-8
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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:
How Often Does Parkinsons Run In The Family
Most Parkinsons cases have no connection to a genetic cause, but scientists have found that some gene mutations can heighten an individuals risk. Researchers believe that a better understanding of these genes may improve ways of identifying and treating the illness.
The National Institute of Neurological Disorders and Stroke reports that an estimated 15 to 25 percent of people with Parkinsons have a family history of the disorder. The Michael J. Fox Foundation for Parkinsons Research estimates;that about 10 percent of cases are linked with a genetic cause.
Parkinsons doesnt stand out as a hereditary disease over and above any other chronic diseases that people deal with, says Rebecca Gilbert, MD, PhD, chief scientific officer for the American Parkinson Disease Association in New York City. But if you have a parent with Parkinsons disease, you have about a fourfold greater risk over the general population.
Still, that risk is relatively small. About 1 percent of the population over 60;has Parkinsons, according to the Michael J. Fox Foundation, and that number rises to about 4 percent for those who have a mother or father with the illness, according to Dr. Gilbert. The overall message is: Just because you have a gene linked to Parkinsons does not mean you will get the disease.
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What Determines Who Gets Parkinson’s Disease
In most cases inheriting a non-working copy of a single gene will not cause someone to develop Parkinson’s disease. We believe that many other complicating factors such as additional genes and environmental factors determine who will get the condition, when they get it and how it affects them. In the families we have studied, some people who inherit the gene develop the condition and others live their entire lives without showing any symptoms. There is a lot of research on genes and the environment that is attempting to understand how all these factors interact.
Genetic Testing in Parkinson’s Disease
Genetic testing has recently become available for the parkin and PINK1 genes. Parkin is a large gene and testing is difficult. At the current stage of understanding, testing is likely to give a meaningful result only for people who develop the condition before the age of 30 years. PINK1 appears to be a rare cause of inherited Parkinson’s disease. A small percentage of those developing the condition at an early age appear to carry mutations in the PINK1 gene. Genetic testing for the PARK7, SNCA and LRRK2 genes is also available.
Additional Resources
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
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Report Problems With Your Medications To The Fda
You are encouraged to report negative side effects of prescription drugs to the FDA. Visit the FDA MedWatch website or call 1-800-FDA-1088.
For more information, visit the Duke Health Neurological Disorders Center
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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 at Parkinson.org/PDGENEration.
*Please note that not all content is available in both languages. If you are interested in receiving Spanish communications, we recommend selecting both” to stay best informed on the Foundation’s work and the latest in PD news.
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Who Should Get Genetic Testing
Two groups might consider getting genetic testing, according to Gilbert:
- People with Parkinsons who want to know if they have a mutation they may pass along to their children
- Children and siblings of family members with Parkinsons who want to determine their genetic risk for the disease
Right now its not standard of care for everyone with Parkinsons to get genetic testing, she says. The likelihood that were going to find one of these mutations that is known already is small, and even if you have a mutation associated with Parkinsons, it doesnt mean that youre going to get the disease.
So, at this point, the value of getting tested depends on the individual. Doctors can provide this type of genetic evaluation, or people may turn to direct-to-consumer genetic testing, such as 23andMe. These tests, however, can be limited.
You have to be careful with those panels because theyre not very comprehensive, says Gilbert. They may test for only one or two gene variations.
Currently, 23andMe analyzes DNA from spit samples for a variant in LRRK2 and a variant in the GBA gene associated with the disorder. The company makes it clear that the exam does not diagnose the disease, and there are many other mutations to consider.
Parkinsons patient Paul Cannon, PhD, who works for 23andMe as its Parkinsons research community manager, took the test and found that he had neither of the genetic variations.
Molecular Diagnostic Testing In Pd
Molecular diagnostic testing is currently available for PRKN , PINK1 , DJ-1 , and LRRK2 . However, molecular testing and genetic counseling is challenging in PD patients and their families because of the varied patterns of inheritance that has been observed. Clear review of the family history and clinical symptoms is essential in prioritizing the molecular tests. Importantly, clinical recommendations are not altered based on the presence or absence of a particular molecular mutation. Therefore, molecular diagnostic testing is not essential in the current management of PD patients.
For PD patients with an early onset of disease, it has been estimated that 50% of those with onset before age 40 have a mutation in PRKN, PINK1, or DJ-1. However, given the rarity of PINK1 or DJ-1 mutations, initial testing of PRKN would seem to be the most cost effective strategy. Based on the distribution of age of onset of patients with PRKN mutations, it has been recommended that those patients with onset prior to age 40 be considered for screening for PRKN mutations. Although mutations have been found in those who onset above age 40, the rate is quite low and therefore testing is not likely to be cost effective.
In patients with early onset PD who have been tested for PRKN and found to be negative, it may be appropriate to consider screening PINK1 and DJ-1. However, mutations in both of these genes are much less frequent than those in PRKN.
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