Early in his career, funding from the Parkinson’s Foundation set researcher Jean-Christophe Rochet, PhD, on a path to understanding the role of alpha synuclein, a key protein in the brain linked to Parkinson’s disease (PD). The death of neurons in the brain (known as neuronal loss) is a defining trait of Parkinson’s and is thought to involve oxidative stress and the clustering of alpha synuclein. 

Now Director of the Institute for Integrative Neuroscience and Professor of Medicinal Chemistry and Molecular Pharmacology at Purdue University, Dr. Rochet looks back at how this early work helped establish a path to understanding the mechanisms inherent to neuronal loss and dysfunction. These findings have been critical in the development of new therapeutic strategies.

“I can trace back to the Parkinson's Foundation how those early grants helped build a cell culture model in my lab, which became attractive to other groups. That first Parkinson’s Foundation grant allowed us to develop and optimize an important cell model of alpha synuclein neurotoxicity, that then became the basis of many of our initial publications. It was a very important project because it really set up key systems.”

- Dr. Rochet

Building on cross-institutional collaboration with colleagues across the country, Rochet’s lab has contributed to further understanding of Parkinson’s Disease over the past decade. This collaborative approach has led to breakthroughs in understanding the mechanisms of Parkinson’s and a radical transformation in screening processes for Parkinson’s-related genes, which could lead to the development of early therapeutic options.

“There's no doubt that there’s been a tremendous explosion of knowledge not only around aspects of Parkinson's, but also in understanding that Parkinson's really exists as multiple disease subtypes. We have to think about personalized approaches, not just a one size fits all therapeutic strategy,” Dr. Rochet explained. “We have a lot more tools at our disposal to accomplish some of these therapeutic goals. The last few years have seen remarkable technological advances, along with a greater understanding of individual proteins, such as alpha synuclein, plus a greater understanding of all the different pathways involved. I think that gives good reason for hope.”

Recently, Dr. Rochet has seen his involvement with the Parkinson’s Foundation come full-circle when a member of his lab received a Visiting Scholar Award from the Foundation. While small in scale, this funding allows for the type of cross-institutional collaboration that has been so key to Dr. Rochet’s own career success, allowing young investigators to learn new techniques and help disseminate learning across labs. “One of my students was able to receive one of those awards, which allowed my lab at a later stage to move in a completely new direction that has really taken the field by storm.” 

This most recently funded research explores a form of alpha synuclein clusters and their behavior when injected into the brain.

“It's a very important mechanism that we really need to be thinking about, but I didn't want to move into that direction until I had an expert lab show us exactly how to work with that system,” Dr. Rochet said. “The data that we've collected led to numerous new [grant] awards. Tracing it back to the same theme as what happened early in my career, it really enabled us to move to a new direction with nothing to start with. Those key pieces of funding are really critical to get a start in new research areas.”

It has long been suspected by scientists that the flu (influenza) might play a role in developing Parkinson’s disease (PD) later in life. The first and possibly most famous example of this connection was the 1918 Spanish flu outbreak. People born during the Spanish flu had a two- to three-fold-increased risk of later developing PD compared to those born before 1888 or after 1924 — suggesting that early-life exposure to the flu boosted PD risk.

A 2011 United Kingdom study reported an association between influenza infections and people developing PD symptoms such as tremor, but not with an increased risk of developing PD. There was also a small study in Canada in 2012 that found an association between having had severe influenza 10 years prior increased the risk of developing PD. Is there a connection?

Recently published in the journal, JAMA Neurology, “Long-term Risk of Parkinson Disease Following Influenza and Other Infections” (Cocoros et al., 2021), a large-scale, case-controlled study sought to rigorously investigate whether:

1. Previous flu infections are associated with an increased risk of PD more than 10 years after infection
2. Is the association between the flu and elevated PD risk specific to the flu — as opposed to being triggered by other types of inflammatory infections, such as urinary tract infections.

The study pulled data from the Danish National Patient Registry, which analyzed information from 10,271 men and women (average age 71.4) diagnosed with PD between 2000 and 2017. The data from this group was then compared to 51,355 controls (people without PD) of similar age, sex, and preexisting conditions such as cardiovascular disease, diabetes and lung cancer. The data of both groups was analyzed for cases of the flu (and other infections) between the years 1977 and 2016 and categorized by time from infection to PD diagnosis. Of note: given that diagnostic codes were the only method available to identify flu cases — rather than actual laboratory-confirmed cases — the study authors limited their focus to flu cases diagnosed during peak flu season.

Results

Compared to those who were not diagnosed with the flu: 

• There was a 70% higher risk of PD for those who had the flu 10 or more years earlier.
• There was a 90% higher risk of PD for those who had the flu 15 or more years earlier.
• There was a 19% higher risk of PD for those who had a urinary tract infection 10 or more years earlier.
• Other types of infections such as gastrointestinal infection, septicemia (blood poisoning from bacteria), male genital infections, appeared to be associated with PD within 5 years of infection, but not after 10 or more years.

What does this mean?

All common colds and flu strains cause inflammation. The symptoms we experience — from stuffy noses to coughing and body aches — are the result of inflammation in the body. Inflammation is how the immune system works to combat infections. We also know that inflammation has also been linked to neurodegeneration in the brain.

This study has demonstrated a strong association between PD and having had the flu within the previous 10 or more years. However, these findings do not necessarily mean that having the flu causes PD. This study also found a 19% higher risk of PD following urinary tract infections occurring the previous 10 or more years before a PD diagnosis. Other infections, such as gastrointestinal infection, septicemia, and male genital infections, which by nature also cause inflammation, were associated with PD within only five years after infection.

Inflammation is clearly a factor in PD – and influenza is known to trigger an extreme inflammatory response in the body. Whether influenza directly causes PD remains unclear. In light of the COVID-19 pandemic, and its known neurological consequences such as brain fog and loss of smell, continued robust research into how inflammation impacts the brain is warranted.

Learn More

The Parkinson’s Foundation believes in empowering the Parkinson’s community through education. Learn more about infections and PD by visiting the below Parkinson’s Foundation resources, or by calling our free Helpline at 1-800-4PD-INFO (473-4636) for answers to your Parkinson’s questions.

• Top Questions and Answers on COVID-19 and Parkinson’s Disease
• Covid-19 & Parkinson’s
• PD Hospitalization and Coronavirus Preparedness Fact Sheet: Download this document that has crucial information for healthcare professionals in the case you are hospitalized during the COVID-19 pandemic.
• Is Parkinson’s Disease on the Rise?

For Lynda Nwabuobi, MD, a movement disorder specialist at New York-Presbyterian/Weill Cornell Parkinson’s Disease and Movement Disorders Institute, patient care is as much an art as a science.

Dr. Nwabuobi, whose specialized training was supported through a Parkinson’s Foundation Movement Disorders Fellowship, delivers compassionate, individualized care to her patients while also engaging in clinical research. The Parkinson’s Foundation believes in increasing access to specialized care for people with Parkinson’s and continues to do so through funding clinical fellowships and grants.

“I had an excellent fellowship — the availability of the grant to the university allowed me to benefit from exceptional training,” said Dr. Nwabuobi. “I was surrounded by some of the greatest minds in Neurology, and it has helped my career because it opened my mind to a lot of possibilities.”

Dr. Nwabuobi’s patients with Parkinson’s disease (PD) benefit not just from her expertise, but also from her passion for clinical research, which heavily focuses on documenting and addressing the root causes of healthcare disparities. Getting to know and better understand the needs of her patients in the clinic also inspires new directions in her research.

“Having such a large practice, you truly get to see what people with PD and their family members are dealing with,” said Dr. Nwabuobi. “It shows you what the gaps in care are, and points to ways that we can make things better today.”

A prime example is rooted in Dr. Nwabuobi’s observation that women with PD are more likely to come to her clinic alone. “In my previous research work, I examined sex disparities in homebound PD patients,” said Dr. Nwabuobi. “We found that women with PD who are homebound are more likely to be alone and less likely to have access to a neurologist. In addition, loneliness affects morbidity and mortality. This tells me that women, especially those who are homebound, are a group of patients that I need to pay closer attention to; we have to do better for them.”

During Dr. Nwabuobi’s Neurology residency, she led a study on care disparities between the majority-white, privately insured patients seen at the main hospital clinic of New York University (NYU) vs. the racially diverse, multicultural community of patients seen at the nearby public Bellevue hospital clinic, many of whom were uninsured. Both sets of patients saw the same specialist, and in fact, public hospital patients saw their doctors at a more frequent rate than the main campus patients, yet still experienced disadvantages in care.

Differences noted included reduced access to physical therapy, certain beneficial medications, and deep brain stimulation surgery for the public hospital group. This research was highlighted in the Journal of Cross-Cultural Gerontology in the article titled, “Racial and Social Disparities in Health and Health Care Delivery Among Patients with Parkinson’s disease and Related Disorders in a Multicultural Clinic Setting.”

"I am passionate about creating access to better care to marginalized communities and bringing more diversity to the clinic. I am very much affected when I see that people get different treatment based on the color of their skin, whether or not they are insured, or what language they speak. People are becoming more aware of the effects of racism in healthcare. My greatest hope is that we will live in a world that provides equitable care for everyone."

- Dr. Nwabuobi

At her Columbia University clinic during her fellowship, where over 80% of her patients were white (despite the racially and ethnically diverse community surrounding the hospital’s campus), Dr. Nwabuobi decided to take action to encourage marginalized people to seek the hospital’s neurological resources.

“I had an idea to set up a table at the community farmer’s market in Washington Heights as a way of creating awareness about PD and available resources,” said Dr. Nwabuobi. “I call it “Neurology at the Market!” I found that farmer’s markets are a good way to get into communities. This year, I expanded the effort, and I had my residents and medical students involved. It has been very successful!”

“Dr. Nwabuobi’s work embodies the Foundation’s belief that all people deserve quality care, and that may require us to think outside the box,” said Juanita Pharr, Director of Clinical Affairs at the Parkinson’s Foundation. “The benefits of Dr. Nwabuobi’s approach to clinical engagement for her patients and the wider community she shares, truly highlights why the Foundation is dedicated to supporting specialized training.”

Dr. Nwabuobi reflected on the Foundation’s resources and impact on her patients: “All the programs that Parkinson’s Foundation offers are helpful to my patients — especially virtual programs. Our biggest goal in the field is raising awareness. The current work of the Parkinson’s Foundation will create greater awareness.“

Find a movement disorders specialist in your area at Parkinson.org/InYourArea or call the Parkinson's Foundation Helpline at 1.800.4PD.INFO (1-800-473-4636).

The way dopamine is released and how it influences other cells (called neurotransmission) is a critical factor in understanding how Parkinson’s disease (PD) affects the brain. The influence of dopamine is also critical for motor and reward, or reinforced, learning.

New York University’s Margaret Rice, PhD, has worked to understand dopamine neurons and their role in movement for decades, bringing new insights and understanding to Parkinson’s as well as a host of other neurological conditions and movement disorders.

The Parkinson’s Foundation caught up with Dr. Rice to discuss her research at the Rice Lab at New York University. She described the impact of the Parkinson’s Foundation early grant supporting her research and her hopes for encouraging a new generation of scientists to focus on Parkinson’s. 

You received Parkinson’s Foundation research funding in 2002. How did it impact your work?

I was really interested in dopamine because it’s such a fascinating molecule. My research seeks to understand why dopamine neurons, the ones in the substantia nigra [the area of the brain that produces dopamine], are selectively vulnerable — it's a fascinating question, but also really important.

Can you describe the role of dopamine in understanding Parkinson’s?

Dopamine “wears” two main hats:

1. As a conductor, orchestrating in movement — acting through substantia nigra dopamine neurons in the midbrain, which degenerate in Parkinson's
2. As a motivational speaker, promoting motivation and reward — acting through nearby ventral tegmental area dopamine neurons

It makes sense that there are loops between these cell groups and that they're right next to each other, because movement and motivation are inextricably linked and dopamine neurons facilitate both processes.

I became particularly interested in somatodendritic dopamine release, which is an unusual way for neurons to communicate with each other. Typically, neurons extend long connections to release dopamine in a location called a synapse. However, the dopamine neurons in the midbrain not only make traditional connections but they also release dopamine directly from the cell body to influence their own activity, and possibly that of their immediate neighbors. My grant proposal was focused on studying that release process using carbon fiber microelectrodes (conductors) to detect dopamine release in brain slices.

The Foundation’s funding allowed me to pivot my research. I was able to use preliminary data from this work to get a National Institutes of Health (NIH) grant and I have had continuous funding since then to study dopamine. Our most recent work is addressing fundamental questions about this dopamine release. This work was published in 2021, so the trajectory has been onward and upward since that funding from the Foundation, which came at a crucial moment.

You have been dedicated to Parkinson’s research for 20 years. How has the impact of your work helped the PD community better understand this disease?

If you don't understand how something works, you're not going to be able to fix it. So, you have a cell phone and suddenly it doesn't turn on. Why? If you don't understand that you need to be charging it regularly, that it has a battery, it's useless for you.

A lot of our work is basic science. Understanding how this process of dopamine released by dopamine neurons happens is important. There is a dopamine toxicity theory of Parkinson's disease, for example, that theorizes that dopamine can oxidize [a chemical reaction], which can be toxic to cells and may contribute to the selective degeneration of dopamine neurons. Understanding factors that regulate dopamine release and uptake inside cells and understanding which aspect of this process might go awry and contribute to a degenerative process — all of this is critical in understanding Parkinson’s.

You are part of the Parkinson’s Foundation Scientific Advisory Board. Can you tell us about this work and your interest in helping the next generation of Parkinson’s researchers? 

I continue to believe that this should be one of our most important missions — to help new investigators get seed money for bigger funding, but also to engage them in the Parkinson's field. We get fantastic proposals, and it would be great if those folks became interested in turning their attention to either fundamental neuroscience about dopamine, the basal ganglia function (brain structures responsible for motor learning) or disease processes. They are all important in moving the field forward.

What makes you most hopeful that we will reach an understanding of the disease that impacts people with Parkinson's?

The more we understand how circuits and cells of the basal ganglia function normally, the greater the chance of restoring that function. If we can understand how the components of this motor system work together, we could fill in a piece that may be broken even if we haven't fixed the cause.

Learn more about Parkinson’s Foundation research initiatives at Parkinson.org/Research.

Forty percent of the people living with Parkinson’s disease (PD) worldwide are women. Right now, in the U.S. there are more than 400,000 women living with PD. To this day, women are woefully underrepresented in PD research.

With the limited research we do have, compared to men with Parkinson’s, women with PD experience:

1. Different motor and non-motor symptoms
2. Different disease risk factors
3. Different treatment side effects
4. More challenges with access to healthcare delivery
5. Less social support

The inherent biological, psychosocial (the influences of social factors on an individual’s behavior and mental health), sex and gender differences are seldom considered when research and care priorities are being selected.

400,000 women live with Parkinson’s

in the U.S.

Six women researchers, of whom five are doctors of medicine and three are living with PD, recently published a review article in the journal, Movement Disorders, titled, “Unmet Needs of Women Living with Parkinson's Disease: Gaps and Controversies” (Subramanian et al., 2022). They sought to rigorously evaluate and document the current knowledge, gaps and possible strategies to address the unmet needs of women living with PD, with a focus on the clinical and psychosocial aspects.

Summary

Below we summarize the authors findings, highlighting the distinctive experiences of women with Parkinson’s. The authors note that many research findings have not been conclusive yet. In addition, the researchers emphasized the need for additional studies focused on better understanding PD in women. Findings include:

Sex, Gender & Risk Factor Studies

• PD risk is lower in current male smokers, compared to current female smokers.
• Alcohol consumption had more pronounced risk-lowering effect in women than men.
• Very little is known about the experience of women with PD in the Lesbian, Gay, Bisexual, Transgender, Queer or Questioning plus other sexual identities (LGBTQ+) community.
  • Discrimination and stigma as barriers to accessing care may hinder knowledge, diagnosis and involvement with multidisciplinary approaches to treatment.
  • 33% of older members of the LGBTQ+ community reported experiencing stigma from their doctor, which led to general mistrust of the medical system.

Premenstrual, Pregnancy and Premenopausal

• Women often report worsening of motor symptoms, just prior to getting their menstrual period each month.
• Approximately 5% of women are diagnosed with PD before they turn 40, thus how PD impacts pregnancy warrants further study.
• PD symptoms have been reported to worsen during pregnancy and postpartum.
• Women often report premenopausal worsening of PD symptoms, also possibly due to a decrease in estrogen.

Sex Hormones Studies

• Estrogen may be neuroprotective, possibly accounting for later PD onset in women.
• Longer duration of hormone replacement therapy in women with natural menopause was associated with reduced risk of PD.
• Whether hormone replacement therapy is beneficial in treating fluctuations in PD symptoms during peri-menopause and post-menopause remains unclear.

Care

• The public (and physicians) believe PD is a disease primarily of elderly white men.
• Women experience a delay in getting an accurate diagnosis of PD and getting a referral to a movement disorder specialist.
• Women often downplay symptoms, and/or may not realize the symptoms are PD-related.
• Women are less likely to get advanced treatments, such as deep brain stimulation (DBS), despite the potential for quality-of-life improvements in mobility.

Mental Health Issues

• Despite decreased abilities, women with PD often continue performing their usual activities, including working and caretaking for family and home. Men with PD do not.
• Women who perceive themselves as caregivers are more likely to be in poor health, have difficulty in accessing needed medical care, and experience greater degrees of depression.
• Women with PD have significantly less social support, more psychological distress, and worse self-reported (but not physician-reported) disability and health-related quality-of-life at initial PD care visits, compared to men.

Relationship Issues

• Married women with PD, with disability, receive fewer hours of informal caregiving compared to married men with the same level of limitations.
• Women living with an illness are more likely to need non-spousal help to fill in the gaps in their needs.
• Women with PD are more likely to live in a nursing home compared to men with PD.

Top 12 Unmet Needs of Women with Parkinson’s

Below are some of the unmet needs of women with Parkinson’s the authors highlight:

1. Customizing treatment for women’s body weight and unique drug metabolism
2. Developing a tool to communicate with providers and improve symptom tracking (including the tracking of menstrual cycles, pregnancy, peri-and post-menopause)
3. Improving access to subspecialty care and advanced therapies (i.e., DBS) for women with PD Guiding self-care/stress reduction strategies for women with PD
4. Guiding self-care/stress reduction strategies for women with PD
5. Creating culturally sensitive resources for communities, including LGBTQ+ and women of color, with PD — guide planning for the future, especially for single women
6. Educating male caregivers with carefully chosen and organized resources and support
7. Increasing awareness in the community to improve the recognition of PD in women and the intersection of other representative populations
8. Educating health care professionals on the importance of referral to a movement disorders specialist for women
9. Increasing awareness of hormonal stages in the lives of women with PD
10. Understanding why women are not engaging in research and develop strategies to improve engagement
11. Recruiting more women in clinical drug trials to improve counseling on the effects and side effects of treatments
12. Conducting research on reproductive factors (e.g., natural vs. surgical menopause) on PD risk in women and the protective effects of estrogen and effects of timing of exposure

What does this mean?

In 1993, it became federal law that the National Institutes of Health (NIH) — the world’s largest funder of biomedical research — had to include women as well as men in clinical studies. However, even when women have been included, the influence of sex or gender is neither widely analyzed nor reported. PD is no exception.

PD is erroneously represented as a disease of white, older men. However, Parkinson’s cannot be fully understood without increased representation of women and underserved populations in PD research. Without being represented in PD research women will continue to experience disparities in treatment and care.

Women experience a delayed diagnosis of PD compared to men. In short, best practices need to be established for all healthcare professionals who provide care to women with PD. Healthcare professionals (including all training) should work to include the unique symptoms of women and the impact of estrogen level changes during menstruation, pregnancy and menopause and how that may affect medications.

It is essential that empowering patient educational tools be created. For example, the authors propose a symptom diary that includes hormonal cycle tracking and a PD symptom reporting guide to help women communicate their personal motor and non-motor symptoms with their healthcare professionals.

Lastly, to help address unmet research and care needs of women with Parkinson’s, the Foundation created the first national agenda specific to women with PD. This agenda identified research and care practices that better capture the needs of women. We need to continue to diversify Parkinson’s research that will ultimately help further treatments for everyone living with this disease.

Learn More

The Parkinson’s Foundation believes in empowering the Parkinson’s community through education. Learn more about women and PD by visiting the below Parkinson’s Foundation resources, or by calling our free Helpline at 1-800-4PD-INFO (473-4636) for answers to your Parkinson’s questions.

• Women and Parkinson’s Disease
• Podcast Episode 50: Encountering Gender Differences – Women & PD Initiative
• Pregnancy and Fertility with Parkinson's

April is Parkinson’s Awareness Month — a time to shine a light on Parkinson’s disease (PD) and share resources with the PD community. Whether that means navigating your own future with Parkinson’s or helping us create a world without PD, together we can make an impact on the #FutureOfPD.

The Parkinson’s Foundation is working toward a future where no one lives with Parkinson’s, and we want you to be a part of it. Here are three meaningful ways you can help change the #FutureOfPD:

1. Future of PD Research

Research leads to breakthroughs in treatment that bring hope. Participating in research can help us provide improved care for all people with Parkinson’s today.

Genetic testing can be a powerful tool to uncover biological pathways that cause Parkinson’s. If you have a confirmed Parkinson’s diagnosis, you are eligible to participate in PD GENEration: Mapping the Future of Parkinson’s Disease. This research initiative offers genetic testing for clinically relevant Parkinson's-related genes and genetic counseling at no cost for people with PD.

2. Future of PD Care

Receiving specialized care makes a difference. Our Global Care Network guides the future of care by creating opportunities for people with PD to access high-quality care.

Comprehensive care is varied and not easily accessible for everyone living with Parkinson’s. The future of PD care involves closing the gap between those diagnosed with Parkinson’s and those receiving comprehensive care, information and support. Help us ensure that all people with PD have access to equitable and quality care — getting what they need, where and when they need it.

3. Navigate Your PD Future

Whether you are newly diagnosed or have been living with Parkinson's for a while, we are here to help you navigate your PD future.

The Parkinson's Foundation Helpline can help answer your Parkinson’s questions:

• Can you recommend a Parkinson’s exercise class?
• As the primary caregiver, are there any resources that can help me?
• Can you refer a movement disorder specialist, physical therapist or another specialist?
• …And more

How can understanding the basic biology of Parkinson’s disease (PD) help us prevent Parkinson’s altogether? In our latest Neuro Talk, Parkinson's Foundation Chief Scientific Officer James Beck, PhD, discusses what basic research is and how funding researchers early in their careers can lead to scientific breakthroughs. He also highlights the role that Parkinson’s Foundation initiatives like PD GENEration: Mapping the Future of Parkinson’s Disease and Reach Further play in furthering PD research.

Watch the latest Parkinson’s disease videos on our YouTube channel.

When the COVID-19 pandemic began in 2019, alternatives to in-person doctor visits became necessary. Many in-person visits were moved to telehealth. In fact, a previous Parkinson’s Foundation survey found that telehealth use increased from 10% prior to the pandemic to 64% during the pandemic among people with Parkinson’s disease (PD). However, little is known about the attitudes of people towards telehealth.

To better understand the attitudes of people living with PD on telehealth use and satisfaction, the Parkinson’s Foundation and Columbia University Parkinson’s Disease Center of Excellence administered a survey. The survey was titled: Attitudes towards telehealth services among people living with Parkinson’s disease: a survey study.

This survey is important as it helps to understand the use of telehealth and quality among the PD community.

Survey Results

The survey was sent to 16,026 email addresses from the Parkinson’s Foundation and Columbia University Parkinson’s Disease Center of Excellence mailing lists. There were 944 complete survey respondents.

The average age for respondents was 71.5 years old, and the average time they have lived with Parkinson’s is seven years.

Experiences with Using Telehealth

Of the 944 completed survey responses:

• 90% of participants were aware of telehealth
• 83% used it at least once
• In the last 12 months, respondents reported using in-person visits most frequently

Experiences with Telehealth Satisfaction

Overall, people with PD were equally satisfied with most services via telehealth in comparison to in-person visits. Of those who had a positive telehealth experience:

• The highest telehealth satisfaction was for speech and language pathology appointments (79%) and mental health appointments (70%)
• The biggest reasons for telehealth satisfaction: reduced travel time (46%), ease and convenience (22%), and the option for follow-up appointments (19%)

The top reasons people preferred in-person visits include:

• Health care professionals could notice symptom changes better in-person
• Appointments were more thorough (20%)
• Important of sight and touch in a physical examination (20%)

“It is difficult for my doctor to really see my gait, movement responses etc. when I am not there in person,” one survey participant said.

Experiences with Telehealth Quality

The quality between telehealth and in-person visits was similar. It seems that visits that require a physical exam were more preferrable to be in-person. However, people with PD expressed that telehealth saved time, reduced travel, was convenient, and a good option for follow-up appointments. Overall, people with PD saw telehealth video visits to offer the same quality of care as in-person visits.

Key Takeaways

Telehealth satisfaction and use is perceived be a good alternative to in-person visits among people living with PD.

• Telehealth may help alleviate patient burden, especially by reducing travel with decreased mobility.
• While most type of provider visits were equally satisfactory in-person vs over telehealth, speech language and pathology and mental health visits were preferred via telehealth.
• Among the participants, appointments that required physical examinations were preferred to be in-person.
• Telehealth should remain an option in the future.

Learn More

The Parkinson’s Foundation believes in empowering the Parkinson’s community through education. Learn more about telehealth and PD with the below Parkinson’s Foundation resources:

• Telemedicine and Parkinson's
• How to Prepare for a Telemedicine Appointment
• Parkinson’s Foundation Surveys

Reference
Feeney, M. P. et al. The impact of COVID-19 and social distancing on people with Parkinson’s disease: a survey study. NPJ Park. Dis. 7, 10 (2021).

William Dauer, MD, has had an impressive and impactful career in neuroscience. His groundbreaking research has focused on the molecular basis of dystonia (disabling, involuntary movements) and the mechanisms of neurodegeneration (lost brain cells) in Parkinson’s disease (PD).

We spoke with Dr. Dauer, who is also the inaugural Director of the Peter O’Donnell Jr. Brain Institute and Professor of Neurology and Neuroscience at the University of Texas Southwestern Medical Center, about his work, the early encouragement of the Parkinson’s Foundation funding, and his broader interests in breaking down silos between clinical care and research.

You began your career as a neurology resident and fellow in movement disorders at Columbia University more than two decades ago. How did the support from the Parkinson’s Foundation impact your early career?

It's exciting when you're just starting out to get funding. It's validating, important and so critical… those early career awards really can make a huge difference. The Parkinson's Foundation was a dominant force in enabling what my research would be, it would have been inconceivable without that support.

The Foundation funded an ecosystem of people: Bob Burke, Dave Sulzer, Serge Przedborski, Leo Stefanis. To us, as young investigators, knowing that there was some degree of support year after year and that people believed in you, it just made a world of difference. It made a lot of things possible and allowed me to do things I otherwise would not have done.

Many things in science don't work! That's part of becoming a scientist and for people who want to find the answer, that's their drive. Getting early career funding from the Foundation provides a degree of predictability and allows you to explore those ideas that are burning questions — which may be out-of-the-box thinking that wouldn’t necessarily be funded by the National Institutes of Health (NIH). It led to different things that we discovered that I think otherwise would not have been possible.

How did the Parkinson’s Foundation research grant help shape your investigations?

The Foundation was important in bolstering a basic scientific interest in PD research — it was important that they made that path possible. When I first received funding, it was the very beginning of what I would call the genetic discovery era for Parkinson's. Alpha synuclein was discovered as I was doing my fellowship: synuclein was really the first Parkinson-causing gene discovered.

The work we were able to pursue with Parkinson’s Foundation support enabled us to explore whether there was a relationship between that gene and the neurodegeneration caused by the Parkinson-related neurotoxin MPTP. These studies allowed us to discover that there is a relationship between environmental-type toxins and genetics, and that understanding provided a focus for future work. The Parkinson’s Foundation funding provided a set of questions that could be used to help guide research on synuclein itself.

All of that made a difference for me doing that work. There's a good chance I wouldn't have done that work had it not been for the early support of the Parkinson's Foundation. The Foundation support allowed me to pursue this work in an internationally recognized laboratory expert in the most cutting edge mouse genetic technologies needed to pursue these questions.

The grant fostered high quality work and the development of new science and young scientists, as I was at the time and increasing the degree of rigor and what's expected to advance the field. These things are related in ways that are hard to know. Encouraging scientists that do solid work, outstanding, rigorous work that engages and elevates the conversation, has impacts that are diffuse.

One of the most groundbreaking aspects of your career was learning about the causes of dystonia. Can you tell us about this?

Dystonia is an important symptom in Parkinson's, and it can be very disabling. It can, in some cases, be the cause for surgery and deep brain stimulation. My initial passion was dystonia for a variety of reasons, and it has been an enduring passion. The Foundation and the environment at Columbia very much contributed to this interest and, of course, also my clinical care.

The work that the Foundation initially funded was on a form of dystonia discovered at Columbia, together with researchers at Harvard, called DYT1 dystonia [a form of early onset dystonia]. The identification of a genetic form of “pure” dystonia allowed us to be able to look at this piece of the puzzle in isolation. The idea was if we can understand the mechanisms of what causes dystonia — that piece gives us a clearer picture of one of the pieces of the Parkinson disease puzzle.

What's become interesting is that by pursuing the DYT1 research we've developed evidence that dystonia is caused by abnormal functioning, and perhaps even some degree of degeneration, of a particular class of cells in the striatum [area of the brain]. The influence of that work contributed to a focus on these cells in a range of abnormal involuntary movements, including in dyskinesia and dystonia in Parkinson's. A lot of this was developed with that original funding. It's inspired others and influenced other Parkinson’s Foundation-funded investigators.

What is next for you in terms of Parkinson’s research and care?

People with Parkinson’s face a series of unique challenges. My move to UT Southwestern to direct the O’Donnell Brain Institute is an incredible opportunity to take all the scientific and clinical knowledge and experience I was so fortunate to get through places like Columbia and Michigan. I will try to bring the lessons I've learned to bear on a larger scale to tackle these diseases.

I've had this parallel career: I've always seen patients and have had this passion for rigorous research that is informed by my understanding of the illness, and also the quality of care for those with neurodegenerative disease. Creating high-level clinical care connects to the research.

When you have engaged healthcare for patients, when you're doing the right thing, they come back because you're taking care of them and educating their families. That leads them to become advocates for research, and in some cases to participate directly in patient-centered research. Science and medicine are not separate, they are intertwined and nurturing that relationship, as the Parkinson’s Foundation is doing, is critical for the breakthroughs to which we all aspire.

Learn more about Parkinson’s Foundation research at Parkinson.org/Research.

Most people think of Parkinson’s disease (PD) as solely a movement disorders that starts with a hand tremor and progresses over time. In fact, Parkinson’s is a disease that brings with it movement and non-movement symptoms. Specific symptoms experienced, their severity and the rate of progression — along with how they respond to medication — can vary significantly from person to person living with Parkinson’s.

Scientists have identified more than 90 gene variants (changes in a gene) that are associated with Parkinson’s. PD, if inherited, can be:

• Autosomal dominant gene variants: a dominant version of a gene that shows its specific trait even if only one parent passed the gene to the child. These PD-related gene variants include SNCA, LRRK2 and VPS35.
• Autosomal recessive gene variants: shows its specific trait when both parents pass the gene to the child. These PD-related gene variants include PRKN, PINK1 and PARK7 (DJ1).

Variants in the GBA gene, the most common Parkinson’s-related gene, are believed to be a major risk factor for PD whether inherited from one or both parents. Understanding the genetic differences across people with PD could help uncover important clues as to how and why each person's experience with PD differs.

However, testing all possible PD-associated genes is expensive, and rarely covered by insurance. Plus, there are no PD-specific guidelines available to help physicians and genetic counselors choose which genes to investigate. How then, does one determine which genes should be tested?

About the Study

The ClinGen Parkinson's Disease Gene Curation Expert Panel (GCEP), formed in 2020, sought to provide clarity in the world of PD genetic testing, working to establish genetics testing guidelines. They published their findings in the journal Parkinsonism and Related Disorders titled, "The commercial genetic testing landscape for Parkinson's disease" (Cook et al., 2021).

GCEP is an international multidisciplinary expert group that aims to establish the important roles specific PD genes play in disease development. Member expertise spans from key fields such as genetics, medical, academia and industry — and include Jim Beck, PhD, Parkinson’s Foundation Chief Scientific Officer and Anna Naito, PhD, Parkinson’s Foundation Associate Vice President of Research Programs who oversees the Foundation’s genetics study.

Study authors reached out to the National Institutes of Health (NIH) Genetic Testing Registry (GTR) to identify currently available PD genetic tests offered by clinical laboratories. They included only the gold standard of labs — those that are Clinical Laboratory Improvement Amendments (CLIA)-certified. Additionally, those CLIA-certified laboratories had to offer a multi-gene, diagnostic panel for PD.

Cook and her colleagues identified a stunning 502 unique clinical PD genetic tests offered by 28 CLIA-approved laboratories. However, only 11 laboratories also met the selection criteria of providing the same information on their websites as in the NIH Genetic Testing Registry. Of the 11 laboratories, seven are in the U.S. and four are in Europe.

Results

• All 11 laboratories offered a general, diagnostic, multi-gene panels for PD that included three or more genes.
• All panels included in analysis, looked for five genes consistently linked to PD: SNCA, PRKN, PINK1, PARK7 and LRRK2.
• All PD panels ­— except one — included genes linked with juvenile or atypical parkinsonism, genes linked with diseases in the differential diagnosis (a process of testing all possible conditions or diseases that could be causing symptoms) of PD (i.e. Wilson’s disease or dystonia).
• None of the 11 analyzed panels were designated for a particular geographic or ancestral population.
• GBA, a gene carrying significant risk for PD, was not consistently offered.
• VPS35, a more recently discovered PD-related gene, was not consistently offered.
• Less well-established genes (according to published literature) were often included, such as: DNAJC13, TMEM230, GIGYF2, HTRA2, RIC3, EIF4G1, UCHL1 and CHCHD2.
• General diagnostic PD panels differed significantly in size, ranging from five to 62 genes.
• Three laboratories did not explicitly offer additional analysis of copy number variation (change in the number of copies of an individual gene) for genes such as PRKN or SNCA, known for having deletions and duplications.
• There were significant differences in the diagnostic panels offered by U.S. and European laboratories.
• European laboratories tended to offer larger gene panels.
• Testing methods were often neither consistent nor standardized.

What does this mean?

Genetics can be a powerful tool used to help us better understand what is responsible for slowing or stopping the progression of Parkinson's. Genetic testing could lead to the development of better research strategies, improved care and accelerate the development of PD treatments, regardless of whether the PD was inherited or not.

However, the current state of PD genetic testing is far from ideal. There is a lack of standardized genetic tests for PD, making it difficult to compare different test results and interpret the findings to accelerate research and improve care.

Additionally, there is a lack of guidance provided that takes into consideration family history of PD, age of onset, current symptoms or even ethnicity. Why does this matter? For example, let’s take ethnicity: having a GBA gene mutation has been identified in upwards of 12% of people with PD from European descent and 15-20% of Ashkenazi Jewish people with PD. People with a GBA mutation tend to experience PD motor symptoms sooner, decline more rapid cognitively, and have particular difficulty with walking and balance. This would be important information for everyone to know in advance ­— from the person with PD, to their doctor and care team.

Physicians select genetic PD panel tests because of their perceived efficiency, completeness and cost-effectiveness. However, most physicians have little or no in-depth knowledge of PD genetics. Thus, as urgently recommended in this study, we need clear guidelines developed by experts in the field of PD genetics. These guidelines must be a living document, that continually provides updates and insights to new genetic findings.

Establishing clear PD genetic guidelines can: help doctors and healthcare professionals provide more efficient care, genetic counselors provide better guidance based on current data, and equip researchers with the information they need to develop better ways to detect and treat Parkinson’s.

Learn More

The Parkinson’s Foundation believes in empowering the Parkinson’s community through education. Learn more about genetics and PD through the below Parkinson’s Foundation resources, or by calling our free Helpline at 1-800-4PD-INFO (473-4636) for answers to your Parkinson’s questions.

• Genetic Counselors Answer Top Parkinson’s Questions
• Groundbreaking Research Explores Genetic Causes of Parkinson’s in Latinos
• Genetic Mutation & Parkinson’s: Knowledge is Power
• 6 Ways the Parkinson’s Foundation is Changing Genetic Testing
• Questions and Answers about PD GENEration
• Myths about Parkinson's

If you are living with Parkinson’s, the Parkinson’s Foundation study, PD GENEration: Mapping the Future of Parkinson’s Disease, offers genetic testing for clinically relevant Parkinson's-related genes and genetic counseling at no cost. Enroll now.

If Parkinson's runs in your family and you want to get genetically tested, consult with a genetic counselor. Genetic testing helps estimate the risk of developing Parkinson's, but it is not a diagnosis and cannot provide your probability for developing the disease.