EARLY ONSET PARKINSON’S: PREVALENCE, HOW TO COPE, LATEST RESEARCH

Parkinson’s disease (PD) is a chronic and progressively degenerative disorder affecting the nervous system, causing problems with movement, balance, and other functions. PD is usually associated with older age, as the average age of diagnosis is around 60^[1].

Some people develop PD at a much younger age, before they turn 50. This is called early onset Parkinson’s disease (EOPD) or young onset Parkinson’s disease (YOPD). EOPD is also sometimes referred to as juvenile Parkinson’s disease (JPD) when it occurs in people younger than 21 years of age.

EOPD is a rare and challenging condition that affects about 10% to 20% of all people with PD. As it can have a significant impact on the quality of life of affected individuals, it is very important for patients to remain informed of viable treatment options and clinical trials.

In this article, we will provide you with a comprehensive overview of EOPD, including symptoms, causes, diagnosis, treatment options, and the latest scientific treatment advances.

Signs and Symptoms of Early Onset Parkinson’s Disease

The signs and symptoms of EOPD are mostly the same as those of Parkinson’s disease, but they may vary in their presentation, progression, and response to treatment.

Some of the common signs and symptoms of EOPD are:

• Tremor: Shaking or twitching of the muscles, usually in one hand or arm.
• Rigidity: Stiffness or tightness of the muscles, especially in the limbs, neck, and trunk.
• Bradykinesia: Slowness or reduction of movement, affecting any voluntary action, such as walking, talking, or swallowing.
• Postural instability: Loss of balance or coordination, causing falls, injuries, or difficulty in standing or walking.
• Non-motor symptoms: Problems that do not affect movement but may impact other functions or aspects of life, such as cognitive impairment, mood disorders, sleep problems, sensory changes, autonomic dysfunction, or gastrointestinal issues.

Tremors are the most recognizable symptom of PD, although some people with the condition may have other types of involuntary movements, such as twitches or abnormal muscle contractions (dystonia). All the above symptoms typically affect the movement and overall functioning of a person with PD, and they may also affect their ability to express themselves, speak, use their facial muscles, or posture themselves properly. Stress or excitement may worsen symptoms.

These symptoms are not specific to EOPD or PD, as they may also occur in other conditions that affect the brain or the nervous system. They are collectively called Parkinsonism, which is a term that describes a syndrome or a group of symptoms that resemble PD. These can be caused by medications that block the action of dopamine or calcium or due to vascular conditions.

Early-onset Parkinsonism is commonly associated with several comorbidities due to overlapping genetic root causes. These often comprise other rare genetic disorders such as Wilson’s disease and Fahr’s disease.

Compared to late-onset Parkinson’s, EOPD reveals a slower disease progression. Younger individuals with PD are often more sensitive towards medications, displaying more side effects. Additionally, symptoms such as tremors, cramping, muscle rigidity, and abnormal postures might occur more often in younger individuals.^[2]

Causes of Early Onset Parkinson’s Disease

The exact cause of EOPD is thought to be the result of factors that promote the loss of brain cells which produce dopamine, a chemical messenger that helps control movement and other functions. The buildup of alpha-synuclein in the brain might be the main underlying cause responsible for any form of Parkinson’s disease and is considered a biomarker for the disease.

The loss of dopamine leads to the typical symptoms of PD, such as tremors, stiffness, slowness, and balance problems. Events that trigger alpha-synuclein buildup in EOPD are likely to differ from late-onset PD, which is the more common form of PD that occurs after age 50.

Researchers believe that EOPD may result from a combination of genetic and environmental factors:

Genetic factors: EOPD is more likely to have a genetic component than late-onset Parkinson’s. Some of the genetic factors that may contribute to EOPD are:

• Family history: About 15% to 25% of people with EOPD have a family history of PD, compared to only 5% to 10% of people with late-onset PD.

• Mutations: Some with EOPD have changes or variations in certain genes involved in the development or functioning of the brain cells that produce dopamine, such as PARK2, PARK7, PINK1, LRRK2, and SNCA. These cause alpha-synuclein levels to increase and lead to the death or dysfunction of dopaminergic neurons.^[3]

Genetic testing can help identify some of these mutations and provide information about the specific symptom presentation, risk, and prognosis of EOPD.

Environmental factors: EOPD may also be influenced by exposure to certain substances or conditions that may damage the brain cells or interfere with dopamine production. These factors may include:

• Pesticides and herbicides
• Heavy metals
• Solvents and harsh chemicals
• Head trauma
• Infections
• Chronic Stress

Evidence for these factors is not conclusive, and more research is needed to better establish their role in EOPD.

Parkinsonism may also be caused or triggered by withdrawal from certain medications, vascular conditions, low brain oxygenation, and other neurodegenerative conditions such as dementia.

How Common is Early Onset Parkinson’s Disease?

EOPD is a rare condition that affects only a small proportion of people with PD. According to the Parkinson’s Foundation, about 10% to 20% of people with PD are diagnosed before age 50. This means that out of the estimated one million Americans with PD, about 100,000 to 200,000 have EOPD. However, these numbers may be underestimated, as EOPD is often misdiagnosed or overlooked in younger people.

EOPD affects both men and women, but men are slightly more likely to develop it than women. The average age of onset of EOPD is around 40, but some people may develop it as early as in their 20s or 30s. The youngest reported case of Parkinson’s disease is that of a 12-year-old boy from Brazil, who was diagnosed in 1985.

Early Onset Parkinson’s Disease Diagnosis

The diagnosis of EOPD is based on a clinical examination, medical history, and the patient’s response to medication. There is no definitive test available yet that can confirm or rule out EOPD, however, as with Parkinson’s disease, the buildup of alpha-synuclein protein in the brain may be a biomarker that can be used to test for the disease.

Further advancements are necessary to develop diagnostic tools capable of detecting biomarkers like alpha-synuclein. The standard tests and procedures currently used include:

• Imaging: This involves using techniques such as magnetic resonance imaging (MRI), computed tomography (CT), or positron emission tomography (PET) to obtain images of the brain or other organs. Imaging can help detect abnormalities or changes in the brain structure or function that may be related to EOPD or other conditions. For example, a PET scan can measure the level of dopamine or its receptors in the brain, which may be reduced in EOPD.
• Genetic testing: This involves analyzing the patient’s DNA to identify any mutations or variations in the genes that are associated with EOPD or other forms of PD. Genetic testing can help confirm the diagnosis, predict the prognosis, or guide the treatment of EOPD. However, genetic testing is not widely available or recommended, as it may have ethical, psychological, or social implications for the patient and their family.
• DaTscan^[4]: This is a specific type of imaging that uses a radioactive tracer called ioflupane to visualize the dopamine transporters (DaT) in the brain. DaT are proteins that help transport dopamine from one nerve cell to another. DaTscan can help differentiate EOPD from other conditions that may cause similar symptoms, such as essential tremor or drug-induced Parkinsonism. However, DaTscan cannot distinguish EOPD from late-onset Parkinson’s or other forms of PD.

Early Onset Parkinson’s Disease Treatment

The treatment of EOPD is aimed at managing the symptoms, improving the quality of life, and slowing down the progression of the disease. There is no cure or preventive measure for EOPD. However, there are various treatment options and strategies that can help control the condition and its complications.

Medication: This is the mainstay of treatment for EOPD, as it can help restore the balance of dopamine and other neurotransmitters in the brain.

• Levodopa: The most effective and widely used medication for EOPD is Levodopa^[5], which is converted into dopamine in the brain. However, Levodopa may cause side effects such as nausea, dyskinesia (involuntary movements), or motor fluctuations (wearing-off or on-off phenomena). Levodopa is usually combined with other drugs to enhance its efficacy and reduce its adverse effects.
• Anti-Parkinson’s drugs: Patients may prefer other alternatives before opting for Levodopa, especially if they are very young or sensitive to medications. Other medications used in treating EOPD include anticholinergic drugs, MAO-B inhibitors, dopamine receptor antagonists, and amantadine.^[6]
• Other medications: In addition to the drugs mentioned above, dopamine agonists and catechol-O-methyltransferase inhibitors may also be used for treating EOPD.

Surgery: This is a treatment option for EOPD that involves inserting electrodes or devices into specific areas of the brain to stimulate or modulate the activity of the nerve cells.

• Deep Brain Stimulation: The most common type of surgery for EOPD is deep brain stimulation (DBS), which uses a battery-operated device called a neurostimulator to deliver electrical impulses to the target regions. DBS can help improve the symptoms of EOPD, especially tremors, rigidity, and bradykinesia, and reduce the need for medication. However, DBS may also cause complications such as infection, bleeding, or device malfunction.^[7]

Other types of surgery for EOPD include lesioning (destroying) or grafting (transplanting) of brain tissue.

Supportive Therapies: Those with Parkinsonism diseases, such as EOPD, may benefit from supportive therapies that help them cope with the challenges that arise when living with the condition. These include:

• Physiotherapy: A treatment option that involves using exercises, stretches, massages, or equipment to improve physical function, mobility, and balance. Physiotherapy can help to improve symptoms of EOPD, such as reducing pain and stiffness and enhancing posture and gait.
• Occupational therapy: A therapy in which activities, devices, or adaptations are used to improve daily living skills, independence, and safety. Occupational therapy can help the patient cope with challenges and limitations of EOPD, such as undertaking daily activities with limited mobility. It may also provide education, counseling, or support to the patient and their family or caregivers.
• Speech therapy: This involves using exercises, techniques, or devices to improve the speech, voice, or swallowing of the patient. Speech therapy can help the patient overcome symptoms such as hypophonia (low volume), dysarthria (slurred speech), or dysphagia (difficulty swallowing).

Lifestyle modifications: These are treatment options for EOPD that involve changing or adopting certain habits or behaviors to improve the health, well-being, and outlook of the patient. Lifestyle modifications can help prevent or reduce the risk factors, symptoms, or complications of EOPD, such as stress, depression, or fatigue.

Some of the lifestyle modifications that may benefit the patient include:

• Eating a balanced and nutritious diet
• Drinking enough water
• Getting enough sleep
• Exercising regularly
• Quitting smoking
• Managing stress
• Engaging in hobbies
• Joining a support group

Life Expectancy and Prognosis of Early Onset Parkinson’s Disease

One of the most common and understandable questions that people with EOPD and their families may have relates to longevity.

Unfortunately, there is no simple or definitive answer to this question, as the life expectancy and prognosis of EOPD vary widely depending on many factors. However, some general trends and estimates can be derived from available data.

According to the Parkinson’s Foundation, the average life expectancy of people with PD is about the same as the general population. This means that people with PD can live as long as the general populace with proper treatment and care. This may not apply to people with EOPD, as they may face different or additional challenges and complications that may affect their survival and quality of life.

Some of the factors that may influence the life expectancy and prognosis of EOPD are:

• Age of onset
• Disease severity
• The presence of comorbidities
• Treatment efficacy

Based on these factors, some studies have estimated that the life expectancy of people with EOPD may be reduced by 5 to 10 years compared to the general population. However, these estimates are not conclusive.

Living with EOPD: How to Cope

EOPD can be hard to deal with for both the person who has it and the people who care for them. EOPD can affect many aspects of life, such as health, mood, work, and relationships. Therefore, it is important to find ways to cope with EOPD to make life worth living.

Some useful suggestions might include:

• Getting support from others who understand and can help. This can be a support group, a counselor, or a friend or family member.
• Joining a community of people who have similar experiences, interests, or goals. This can be a social club, a hobby group, a volunteer organization, or an online forum.
• Learning more about EOPD and how to manage it. This can be reading, watching, or gathering sources of information, knowledge, or skills.

Keeping a positive outlook and attitude also goes a long way towards leading an optimal life. The above suggestions promote positivity in one’s life, as do actively practicing gratitude and compassion, maintaining an optimistic mindset, and holding on to one’s sense of humor.

Latest Advances in EOPD Diagnosis and Treatment

Remaining informed can help to keep one’s spirits up as well. Recent scientific advances in EOPD treatment are edging ever closer to a cure for this condition, as well as dramatically improving its swift detection.

Some of the latest advances in EOPD diagnosis and treatment are:

• Early alpha-synuclein detection: A new technique was developed that can detect a biomarker for EOPD in the blood, saliva, or cerebrospinal fluid, making it possible to diagnose the disease at early stages. The technique uses a novel method called alpha-synuclein seeded aggregation assay (αSyn-SAA) to measure the level of alpha-synuclein, a protein that builds up in the brain of nearly all patients with EOPD. The accuracy of this technique might make it possible to diagnose EOPD in patients at early stages, and it is currently being tested in clinical trials^[8].
• UB-312 Parkinson’s Vaccine: A new immunotherapy that can deliver antibodies that target the alpha-synuclein protein and halt disease progression. It makes use of a synthetic version of alpha-synuclein and couples it to an immune cell protein. This sensitizes immune cells to the protein, causing the body to remove it from the brain and put an end to one of the main factors believed to perpetuate the disease. The vaccine is currently about to enter phase II clinical trials after showing promising results in phase I trials.^[9] There are many more similar vaccines currently under development.
• Parkinson’s Stem Cell Therapy: A new stem cell transplant that can replace the lost or damaged brain cells that produce dopamine and restore normal motor function in EOPD. The stem cells are modified in a way that propels them towards sites of damage^[10], which include the faulty dopamine-producing brain cells of those with PD. Several patients have already received this treatment in clinical trials, which proved to reduce symptom severity and enhance mobility^[11]. There are already many safe applications for stem cell therapy, and it might emerge as one of the less risky procedures for Parkinson’s treatment.

With treatments like these currently under development, those with EOPD can look forward to the possibilities and opportunities that lie ahead.

One of the ways that people with EOPD can benefit from recent breakthroughs is to participate in clinical trials, which are research studies that evaluate the safety and effectiveness of new drugs, devices, or procedures. People with EOPD who are interested in joining clinical trials can consult with their doctor or a specialist or visit websites such as [ClinicalTrials.gov] or [Fox Trial Finder] to find out more information and opportunities.

Conclusion

EOPD is a rare and challenging condition that affects people younger than 50 years of age. It is far less studied and not nearly as well understood as classic Parkinson’s disease. While similar, it often gives rise to different or additional symptoms and complications when compared to late-onset Parkinson’s. The life expectancy and prognosis of EOPD are uncertain and may depend on various factors, such as age at onset and disease severity. Despite often posing significant difficulties to those with the condition and their loved ones, there is hope for those with EOPD.

Current treatment options include medications, supportive therapies, and lifestyle modifications that can help to manage symptoms. Surgery is also an option for highly resistant cases. New diagnostic tools and treatment options are very close to being widely available for EOPD and can be expected to fully emerge in the next couple of years.

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