Parkinson’s disease (PD) has been very difficult to diagnose when in its early stages. Individuals are frequently diagnosed only after motor symptoms become noticeable. The sooner Parkinson’s is diagnosed, the sooner treatment can start, slowing down the progression of the disease. Researchers have developed new tests for early diagnosis, giving Parkinson’s disease patients a chance at a better prognosis.
Understanding Parkinson’s Disease
Parkinson’s disease is a complex medical condition that has been studied for many years. It is a progressive disorder of the nervous system that affects regions of the brain, especially the region that controls movement and balance called the substantia nigra. Understanding the path of research on new testing forms is easier when knowledgeable of the mechanics of the disease.
The specific causes of the disease are still unknown. The U.S. National Institutes of Health says it is probably due to a complex interaction of genetic and environmental factors. Approximately 15 percent of patients have a family history of the disorder that is likely caused by mutations or alterations of certain genes. Environmental factors may also cause gene mutations or alternations.
Though there is no definitive answer as to the cause of Parkinson’s, there is a large body of knowledge about the various biological changes that may take place.
- Nerve cells die or are impaired in the substantia nigra (brain region) leading to a reduction of the chemical messenger dopamine. Dopamine transmits signals that contribute to smooth physical movements. As less and less dopamine is produced, the brain eventually is unable to control movement
- In some cases, gene mutations interfere with the cell mechanics that are responsible for breaking down unwanted proteins in the neurons that produce dopamine. Unwanted protein accumulation leads to cells being impaired or dying
- Some gene mutations negatively impact mitochondria, which is the cell’s energy production center. Damaged mitochondria create free radicals (unstable molecules) that damage cells
In most cases, Lewy bodies appear as a result of gene mutations and alterations. Lewy bodies have become an important marker for the diagnosis of Parkinson’s. Lewy bodies are an abnormal buildup in the brain of a misfolded form of the protein called alpha-synuclein.
The location of the Lewy Bodies in the brain of a person with Parkinson’s is midbrain where motor control is found. However, Lewy bodies can affect other parts of the brain too, like the cortex (cognition functioning) and the brain stem (bodily functions). This is why so many symptoms can appear that include cognitive, hallucinatory, emotional and motor issues.
Symptoms of Parkinson’s
In the past, Parkinson’s was primarily detected when an individual experienced motor symptoms. They include slowed movement and loss of natural spontaneous movement (bradykinesia), tremors when resting, muscle rigidity, difficulty speaking or writing and balance issues. By the time these symptoms became very apparent, the disease was well advanced.
Medical researchers then looked for signs of pre-motor symptoms in an effort to make an earlier diagnosis. These symptoms include things like REM sleep behavior disorder in which individual acts out dreams while asleep; hyposmia or reduced sense of smell; little or no facial expression and gastrointestinal difficulties.
Another characteristic of Parkinson’s is that it can also affect cognition (thinking ability) and emotions. People may experience depression and anxiety. There may be visual hallucinations and a decline in memory and judgment.
Problems with Current Methods of Diagnosis
The formation and accumulation of the misfolded proteins in the central nervous system is a prime hallmark of neurodegenerative diseases, including Parkinson’s. Now research is showing evidence that the abnormal protein aggregation of alpha-synuclein proteins can spread to other brain regions in what is called a “prion-like” manner.
Prions are abnormal agents that can cause abnormal folding of prion proteins in the brain. People with prion diseases have many of the same symptoms as people with Parkinson’s. The similarity of Parkinson’s to prion-like diseases has led to new testing forms that can detect the misfolded protein buildup process in its early stages.
Until recently, the diagnosis of Parkinson’s has relied on things like blood tests, and imaging tests and an assessment of symptoms. There is one test called a single-photon emission computerized tomography (SPECT) scan, referred to as a dopamine transporter (DAT) scan for Parkinson's testing, that a neurologist can order. In some cases, people are given a certain Parkinson’s medication (carbidopa-levodopa) to see if it produces significant medication. All these tests are done after the disease has progressed, often when it is too late to make a good prognosis.
New Testing Approaches for Early Detection
Diagnosing PD is difficult and takes time, but researchers have developed new tests that can identify Parkinson’s much earlier. They are in the early stages of utilization, but these tests offer much hope to people faced with declining health.
The new approach for early detection is a device that can measure cerebrospinal fluid (CSF) and plasma alpha-synuclein biomarkers. In other words, the device will measure misfolded proteins (prions). Prions are not easy to detect for several reasons, including the fact it does not take many prions to trigger the devastating effects they can produce.
The exciting news is that the new testing can lead to faster and earlier detection of Parkinson’s in people who already show some symptoms. The test uses spinal fluid to analyze three types of prions. The second type of test using blood samples offers early detection of Parkinson’s in people who do not show symptoms but have increased risk due to factors like genetics and brain aging.
Importance of Early Diagnosis
Early diagnosis of Parkinson’s is important for many reasons. They include:
- Some medications are more effective when administered early in the disease
- Starting an exercise program in the early stages of PD has slowed down disease progression in many people; exercises are easier to perform when in the early disease stage
- Helps to identify the person does have PD and not a different neurologic disorder
- Better able to treat a variety of the symptoms like gastrointestinal difficulties and sleep difficulties
- Always better to identify the specific medical issue to ensure the right treatment plan is developed upfront
- Improves the patient’s quality of life while living with Parkinson’s
Early diagnosis offers the possibility of improving outcomes. The disease has significantly progressed before motor symptoms appear. An early diagnosis can help the physician develop a treatment plan that includes potential neuroprotection medications.
There is still much to learn about Parkinson’s disease, and research continues. Each year, approximately 60,000 people in the United States are diagnosed with Parkinson’s while one million-plus are living with it. If you are one of these people, the good news is that medical researchers are making enormous progress in early detection which can lead to more effective treatment.
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