Science News

A New Test Could Detect Parkinson’s Before Symptoms Appear

Parkinson's Foundation Science News blogs

Researchers announced results from the largest study yet of a new test to detect Parkinson’s — it confirmed that the test was accurate, even for early Parkinson’s.

There is currently no single test that can confirm a Parkinson’s disease (PD) diagnosis. Doctors rely on symptoms and in-office tests to make a diagnosis, meaning the disease has most likely progressed years before symptoms are present. However, a recent study adds promising new data to bolster support for a test that may allow Parkinson’s to be diagnosed before symptoms appear and may help inform Parkinson’s clinical trials.

A hallmark of Parkinson’s is a protein called alpha-synuclein, which is involved in normal brain cell function. However, for many with Parkinson’s, the alpha-synuclein protein clumps or misfolds, meaning it is not shaped properly. Certain forms of misfolded alpha-synuclein may act as “seeds” that spread and lead to misfolding of healthy alpha-synuclein. These misfolded proteins can clump together, and eventually kill brain cells.

Prior work supported by the Parkinson’s Foundation, has shown that the alpha-synuclein “seeds” can spread from cell to cell, much like the dye from a red sock in the washing machine can turn everything pink. Because these protein “seeds” are at very low levels, researchers have re-purposed technology originally developed 20 years ago to test for prion diseases to amplify the misfolded alpha-synuclein in Parkinson’s. The test is called an alpha-synuclein seed amplification assay (SAA). Several small studies have previously shown that this test can distinguish between people who do or do not have Parkinson’s.

On April 12, 2023 The Lancet published the largest test of alpha-synuclein SAA to-date. Andrew Siderowf, MD, neurologist at University of Pennsylvania, Luis Concha-Marambio, PhD, research and development director at Amprion, and colleagues analyzed samples from 1,123 participants who were enrolled in the Michael J Fox Foundation’s Parkinson’s Progression Markers Initiative (PPMI), which includes individuals from 33 outpatient neurology practices worldwide.

The participants included 163 healthy volunteers, 545 people with Parkinson disease, 54 people who had evidence of the disease on brain scans, 51 people who had conditions that often later develop Parkinson’s (but did not yet have Parkinson’s symptoms), and 310 people who had gene mutations that are associated with Parkinson’s but did not yet show symptoms.

Brain scan

The alpha-synuclein SAA test detected early Parkinson’s 87% of the time. In volunteers who did not have Parkinson’s, the test showed the absence of the disease 96% of the time. Surprisingly, only 70% of individuals with mutations in their LRRK2 gene, which has been associated with Parkinson’s, had abnormal alpha-synuclein. This observation could have implications for LRRK2 treatments that are currently being developed — perhaps not all individuals with LRRK2 mutations will respond equally to the treatment.

The test’s ability to detect early abnormal alpha-synuclein Parkinson’s makes it a promising potential tool. Though it is not currently commercially available for diagnosing Parkinson’s, it may soon become useful in Parkinson’s clinical trials by helping researchers learn more about the individuals enrolled and in recruiting people at earlier stages. An editorial in The Lancet called it “a game-changer in Parkinson’s disease diagnostics, research, and treatment trials.”

Study Results

  • Alpha-synuclein seed amplification assay detected early Parkinson’s 87% of the time
  • In volunteers who did not have Parkinson’s, the test showed the absence of the disease 96% of the time

What does this mean?

This method of detecting abnormal alpha-synuclein could be an effective way to detect Parkinson’s years before symptoms appear. Earlier detection would allow for earlier treatment once researchers identify a successful disease-modifying drug. In addition, in its current form, the test can only tell if a person has abnormal alpha-synuclein, NOT how much and how it is changing over time.

Additionally, researchers could use this method to recruit people with early-stage Parkinson’s to clinical trials. It could also help determine the effectiveness of treatments in clinical studies. For example, if a drug treatment reduces abnormal alpha-synuclein over time, it could indicate that the treatment is having an effect.

However, a downside to this test is that it requires a lumbar puncture, also called a spinal tap, to obtain samples of cerebrospinal fluid (CSF). A lumbar puncture can be uncomfortable and requires a specialist physician. It may also cause short-term side effects like headache.

Research Springboard

Studying seed amplification assays to detect and monitor the progression of Parkinson's is a large and growing field of research that brings hope. In 2014, SAA's were applied specifically to detect alpha-synuclein, and researchers have been working on improving them ever since.

Researchers in the PD field are working to develop a quantitative test — an alpha-synuclein SAA test — that finds the presence of alpha-synuclein and measures the amount of abnormal alpha-synuclein. A test like this could be used to see if the alpha-synuclein amount changes with the disease progression, symptom appearance and specific treatments. The hope is to develop an alpha-synuclein SAA test using samples from blood, nasal mucosa, skin and other body fluids that do not require an invasive procedure.

Concurrently to this study, Parkinson's Foundation research grantee, Giovanni Bellomo, PhD, is looking into ways to improve the alpha-synuclein SAA test. Dr. Bellomo is studying whether mucus in the nose can be used to detect SAA, instead of cerebrospinal fluid. Early PD-related alpha-synuclein changes can be found in the olfactory mucosa, which is collected using a swab to scrape the inside of the nose. Dr. Bellomo will compare the results of SAAs and olfactory mucosa collected from people with and without PD. This non-intrusive test would represent a breakthrough in Parkinson's diagnosis, as no such test currently exists.

In addition, he is looking into developing a more clinically useful test that can be reproduced (obtain the same results) in different labs. Lastly, Dr. Bellomo and his team are also developing a way to utilize SAA’s to measure the amount of abnormal alpha-synuclein and how it correlates with movement and non-movement symptoms. The first results of Dr. Bellomo studies were published on April 1, 2023. Learn more about this current study. 

What do these findings mean to the people with PD right now?

Although alpha-synuclein seed amplification assay may be available through a doctor’s office, it is not yet a standard of care and it does not change how doctors diagnose and treat PD. Questions remain about interpreting the results, especially for people who have may genetic forms of PD or do not yet show symptoms of PD. Therefore, it will require additional research and time before the test could become useful as part of routine care. In addition, the test is not covered by medical insurance and is cost prohibitive. Nevertheless, studies like this one are an important step toward allowing the medical research field to establish a test that can help doctors diagnose and track disease progression.

Learn More

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

Educational Events

Live Fitness Fridays - Mind & Motion

Virtual ( Zoom )
1:00 pm to 1:45 pm EST
FREE
Couple sitting on the couch on a tablet

In today’s live Fitness Friday, we will use yoga postures that offer a broad range of motion.  We will begin seated in a chair and move into postures that challenge our balance and strengthen our muscles. We will practice breath work that will calm the nervous system and allow us to embrace a calming meditation. For this class, you will need a chair.

Please keep a bottle of water nearby. Enjoy the session!

Instructor

Elisabeth Kolenko, MA, CYT-550, PWR! Moves Instructor, Atlas School of Holistic Health and Contemplative Education Centre, Ontario, CA

There is no charge to attend, but registration is required. This program is open to people with Parkinson's, their family, friends and the community.

PD Health @ Home is presented by the Light of Day Foundation, whose generosity has made this programming possible.

Light of Day, Fighting Parkinson's, ALS, and PSP logo

This is a virtual program, taking place live, using the online Zoom platform. Instructions on joining the webinar are provided after registering.

Upcoming Events

Educational Events

Managing Changing Symptoms

After many years of good symptom management, Parkinson's disease may become more challenging. Learn how Parkinson's symptoms may change over time and new strategies available to manage them.

Commack, NY
Educational Events

Mindfulness Mondays

Virtual ( Zoom )
1:00 pm to 1:30 pm EST
FREE
Couple sitting on the couch on a tablet

Join us every Monday as our expert speaker leads you in guided relaxation techniques to help boost brain power and reduce stress.

Speaker

Crista Ellis, BS, RYT-200 - Yoga and Meditation teacher, Community Engagement Manager, Parkinson's Foundation

There is no charge to attend, but registration is required.

PD Health @ Home is presented by the Light of Day Foundation, whose generosity has made this programming possible.

Light of Day, Fighting Parkinson's, ALS, and PSP logo

This is a virtual program, taking place live, using the online Zoom platform. Instructions on joining the webinar are provided after registering.

Upcoming Events

Educational Events

Managing Changing Symptoms

After many years of good symptom management, Parkinson's disease may become more challenging. Learn how Parkinson's symptoms may change over time and new strategies available to manage them.

Commack, NY
Educational Events

The Role of the Black Church: A Conversation About Dementia & PD

10:00 am to 12:00 pm CDT
FREE
Dr.Fayron Epps

 

The Role of the Black Church: A Conversation About Dementia & Parkinson’s Disease with Dr. Fayron Epps

Program begins at 10 a.m. Lunch will be served at 11:30 a.m.

Join us for fellowship, learning, food, and an interactive discussion about the role of the Black church in supporting those affected by dementia and Parkinson's disease. Attendees will hear from Dr. Fayron Epps, Associate Professor of Nursing at Emory University and Founder of Alter. Pastor Frederick Smith of the Bridge Christian Center will provide an opening prayer and welcome. People with Parkinson's disease will share their experiences. 

There is no charge to attend, but registration is encouraged. This program is open to community members, faith-based leaders, and anyone in the community interested in learning more.


Speakers:

Fayron Epps, PhD, RN
Associate Professor of Nursing, Emory University

Dr. Epps has devoted her 20+ year career as a nurse leader to reducing health disparities for underserved populations through innovative, culturally relevant programs for the Black community. She works closely with an interdisciplinary team to promote quality of life for Black families affected by chronic illnesses. Dr. Epps serves on the Board of Directors for the Southern Gerontological Society and the Alzheimer's Association Georgia Chapter.

Pastor Frederick J. Smith
Founder and Senior Pastor, Bridge Christian Center

People with Parkinson's Disease 

COVID SAFETY: The health and safety of our participants, sponsors, volunteers and staff are our top priority. We continue to monitor CDC recommendations and will adhere to state and local COVID guidelines in place on the event day. Adjustments will be made if necessary.

Upcoming Events

Educational Events

Managing Changing Symptoms

After many years of good symptom management, Parkinson's disease may become more challenging. Learn how Parkinson's symptoms may change over time and new strategies available to manage them.

Commack, NY
Educational Events

Actively Pursuing Well-being in PD

Virtual ( Zoom )
1:00 pm to 2:00 pm EST
Free
Couple sitting on the couch on a tablet

Wellness Wednesdays: Mental Wellness Series

Living with a chronic and progressive disease like Parkinson’s disease (PD) is no small feat. While PD can feel overwhelming at times, finding ways to connect with meaning and purpose, stay on track with your goals and maintain a strong support network can improve quality of life. Building a healthy, balanced routine can also promote well-being.

Join us to learn from people living with Parkinson’s and PD specialists about ways to actively influence your mental narrative and improve your overall health during this candid, virtual conversation.

Speakers

Paul French, Person with Parkinson's
PD Advocate and Board Member of the Parkinson's Association of the Rockies

Lou Eisenbrandt, Person with Parkinson's
Parkinson's Foundation People with Parkinson's Advisory Council, Member

Gregory Pontone, MD, MHS
Johns Hopkins, Parkinson's Disease Neuropsychiatry Clinic, Director

Terry Ellis, PhD, PT , FAPTA
Boston University, Professor & Chair; Department of Physical Therapy, College of Health and Rehabilitation Sciences: Sargent

Bradley McDaniels, PhD, CRC
University of North Texas, College of Health & Public Service, Assistant Professor

Franchino Porciuncula PT, DPT, PhD
Center of Neurorehabilitation, Boston University

There is no charge to attend, but registration is required.

This is a virtual program, taking place live, using the online Zoom platform. Instructions on joining the webinar are provided after registering.

PD Health @ Home is presented by the Light of Day Foundation, whose generosity has made this programming possible.

Light of Day, Fighting Parkinson's, ALS, and PSP logo

Upcoming Events

Educational Events

Managing Changing Symptoms

After many years of good symptom management, Parkinson's disease may become more challenging. Learn how Parkinson's symptoms may change over time and new strategies available to manage them.

Commack, NY
Podcasts

Episodio 25: Opciones quirúrgicas en el tratamiento de la enfermedad de Parkinson

Aunque los medicamentos suelen ayudar a minimizar las fluctuaciones motoras de la enfermedad de Parkinson, hay ocasiones en las que la medicación no es suficiente y se plantean opciones de tratamiento avanzadas.

Es importante explorar las opciones quirúrgicas con su especialista en la EP si esto es algo que puede considerar. La cirugía a menudo se reserva para quienes han optimizado y agotado los medicamentos para el temblor de Parkinson o que experimentan profundas fluctuaciones motoras.

En este episodio de podcast, escuchamos al Dr. Gonzalo Revuelta, profesor asociado de neurología y director médico del programa de estimulación cerebral profunda en MUSC, la Medical University of South Carolina, sobre las opciones de tratamiento quirúrgico disponibles para las personas con la enfermedad de Parkinson. 

Publicado: 25 de abril de 2023

Advancing Research

Parkinson’s Foundation Presents Findings on Depression, Genetics and Palliative Care at Annual Neurology Meeting

Two female researchers looking at a laptop and tablet

More than 10,000 neurology professionals gathered to learn the latest in research and treatments at the American Academy of Neurology Annual Meeting in Boston, MA. This year, the Parkinson’s Foundation hosted a presentation and shared two posters in research and care. Notably, the Foundation’s PD GENEration: Mapping the Future of Parkinson’s study received special distinction and was selected as an oral presentation as part of the session on Movement Disorders Genetics and Risk.

1.  Screening and Treatment of Depression in Parkinson's Disease Within Movement Disorders Centers

It is estimated that 50% of people with Parkinson’s experience depression. Regularly screening for depression among people with PD can help identify untreated depression and prompt treatment. In this new study using data from our Parkinson’s Outcomes Project, we studied whether offering a systematic screening for depression (including the use of the Geriatric Depression Scale (GDS-15)), can help improve quality of life.

Study takeaways:

  • Five Centers of Excellence began providing depression screening, diagnosis and treatment practices, and evaluated them through medical record reviews.
  • During the implementation phase, when the formal screening rates where all done with a validated screening instrument (GDS-15) it was found that 68% of people with Parkinson’s reported symptoms of depression across the five sites.
  • Prior to offering a systematic depression screening, screening rates for depression ranged anywhere from 56 to 92%, but only 14% used a validated screening instrument.
  • Systematic screening for depression will help improve the standard of care and quality of life by educating clinicians and people with PD.

VIEW THE POSTER

Authors: James C. Beck, PhD, Janis Miyasaki, MD,FAAN, Connie C. Marras, MD, Nabila Dahodwala, MD,FAAN, Kelly A. Mills, MD, Meredith Spindler, MD,FAAN, Daniel Weintraub, Eugene Nelson, Sneha Mantri, MD, Amy Brown, MD, Anna Naito, PhD, Zachary Meyer, Allison Marie Allen, Marilyn Neault, PhD

2.  Frequency of Known Genetic Variants for Parkinson’s Disease in the PD GENEration Study Cohort

This presentation assessed the prevalence of genetic variants for PD through the Parkinson’s genetics study, PD GENEration. Widespread genetic testing will help inform previously unsuspected individuals with PD that they have a genetic mutation in one of the seven major genes known for PD, and ultimately qualify more people for enrollment in genetic-based PD clinical trials.

Study takeaways:

  • PD GENEration genetic testing shows that among participants, ~13% have a genetic variant linked to Parkinson’s.
  • Although reportable variants were more likely to be found in those with either young-onset PD high-risk ancestry or a positive family history, 8% of those without these features had a genetic variant for PD.

Authors: James Beck, Kamalini Ghosh Galvelis, Martha Nance, Anna Naito, Niccolo Mencacci, Ignacio Mata, Anne Hall, Jeanine Schulze, Rayza Priscila Hodges, Anne Marie Wills, Michael Schwarzschild, Karen Marder, Tanya Simuni, Mandy Miller, Jennifer Verbrugge, Lola Cook, Laura Heathers, Michelle Totten, Tatiana Foroud, Roy Alcalay

3. Outpatient Palliative Care for Parkinson’s Disease: Results from a National Survey

Palliative care, also known as supportive care, addresses physical, social, emotional and spiritual needs to improve the quality of life for a person with Parkinson’s and their family. Emerging evidence also shows that receiving palliative care improves patient and family-centered outcomes. However, little is known about the availability of resources and current practices among physicians in addressing palliative care needs in their clinics. The goal of this study is to describe the current availability of outpatient palliative care for people with Parkinson’s and their care partners at 33 US Parkinson’s Foundation Centers of Excellence.

Study takeaways:

  • A survey was sent to 665 healthcare professionals across 33 Centers of Excellence in the U.S.
  • Survey results show that among doctors:
    • 58% use a screening tool to assess non-movement symptoms
    • 6% report managing pain
    • 44% report managing depression and anxiety
    • 15% screen for grief, guilt and additional spiritual concerns
    • 4% report they discuss and review advance care planning documentation
  • Many physicians are currently assessing and managing important palliative care needs for their patients with room for improvement in certain key components.
  • Non-movement symptom screening is a more utilized palliative care component while referral to hospice when appropriate and discussing advanced care planning are reported less.

view the pOSTER

Authors: Kei Sugiura, MD; Umer Akbar, MD; Sandhya Seshadri, PhD, MA, MS; Megan Dini, MA; Peggy Auinger, MS; Sally A. Norton, PhD, RN; Jodi Summers Holtrop, PhD;  Benzi M. Kluger, MD, MS

 

Stay up to date with the latest Parkinson’s Foundation programs, research and happenings in our Parkinson’s Today blog.

Educational Events

Mid-Atlantic Parkinson's Symposium

Virtual ( Zoom )
12:30 pm to 4:00 pm EST
FREE

Mid-Atlantic Chapter Parkinson's Symposium

Check-in starts at 12 p.m. ET

This program will cover various treatment options for Parkinson’s Disease, from exercise, therapies, medications, and surgery options.

Speakers

Dr. Fernando Pagan

Dr. Yasar Torres-Yaghi

More speakers are to be announced.

There is no charge to attend, but registration is required. This program is open to people with Parkinson's, their families, friends, and the community.

COVID SAFETY: The health and safety of our participants, sponsors, volunteers and staff are our top priority. We continue to monitor CDC recommendations and will adhere to state and local COVID guidelines in place on the event day. Adjustments will be made if necessary.

Upcoming Events

Educational Events

Managing Changing Symptoms

After many years of good symptom management, Parkinson's disease may become more challenging. Learn how Parkinson's symptoms may change over time and new strategies available to manage them.

Commack, NY
Videos & Webinars

Expert Briefing: Freezing and Fall Prevention in Parkinson's

April 12, 2023

While aging may put us all at an increased risk for falling, people living with Parkinson’s disease have twice the risk of their peers. Falls often result in injuries ranging from minor cuts to serious fractures, impacting mobility and quality of life. Learn how freezing and other movement and non-movement symptoms can contribute to falls and how to lessen the risk.

Download Slides

Presenter

Colum MacKinnon, PhD
Professor, Department of Neurology, Institute of Translational Neuroscience, University of Minnesota

My PD Story

Chris Cluff headshot
People with PD

Chris Cluff

I had just begun to live my dream of being a stand-up comedian when I was diagnosed with Parkinson’s disease (PD). The physical signs of the disease were present for over a year, but I just ignored them until I couldn’t any longer.

I was used to doing a lot of fun things. I taught yoga more than 40 years, and I enjoyed skiing as a hobby. Unfortunately, as my Parkinson’s symptoms progressed, even those activities were suddenly too much for my body to handle. I became extremely depressed and realized I needed to find an outlet for my emotions.

I happily discovered that laughter was my best friend. I started to take improv classes, which led to performing and teaching as well. When it came to my stand-up comedy, I realized I could use comedy to talk about Parkinson’s disease and share my story with others. I feel strong and whole when on stage, and making people laugh feels amazing! I wish I could extract the magic that comedy puts in my veins and share it with other people living with PD!

Chris Cluff with group

Since I wanted to share my comedy with members of the PD community, I decided to produce a stand-up comedy show benefitting the Parkinson’s Foundation. The show starred three of the top headlining comedians in the state of Arizona… and me!

We had a great crowd and I helped them see that Parkinson’s can also be treated with humor. I told them that I have a different relationship with my doctor these days. He doesn’t just say, “How are you doing?” — he asks, “What’s shaking?”

The event turned out well and was a lot of fun. The comedians did not disappoint; we all got in lots of healing laughter. Quite literally, comedy and performing has kept me alive. As long as I can get up on that stage, I will keep making laughter my way of giving back.

Have a unique idea for engaging with the PD community? Create your own fundraiser.

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