A spinal fluid test can predict who is likely to develop Parkinson’s disease years before symptoms appear, according to a new study.
Parkinson’s is a degenerative syndrome that results in the gradual loss of brain circuitry involved in movement, thought and behavior. It is the fastest-growing neurodegenerative condition in the US and is diagnosed in about 90,000 Americans each year, according to a 2022 study.
There is no blood test or laboratory that diagnoses Parkinson’s disease, said Michael Henderson, a neuroscientist at the Van Andel Institute, a biomedical nonprofit dedicated to researching Parkinson’s and other diseases.
But experts say this test using spinal fluid could be the first step toward a less invasive test to diagnose Parkinson’s disease using blood tests or nasal swabs.
“In no uncertain terms, this is a major breakthrough with unprecedented implications for the future of Parkinson’s, drug development and ultimately clinical care,” said Deborah W. Brooks, CEO of Michael J. Fox Foundation, which sponsored the study.
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How is Parkinson’s disease diagnosed?
Treatment can help reduce symptoms, but there is no cure for Parkinson’s. The syndrome can cause tremors, stiffness, slowness and falls, in addition to anxiety, depression and sleep dysfunction. Experts say most patients are diagnosed at an average age of 60.
The disease is usually diagnosed by a neurologist after a combination of symptom tests, possibly a brain scan and the patient’s response to medication.
But there’s no way to know if someone has Parkinson’s without movement disorder criteria, such as tremors, slowness of movement, stiffness or postural instability, said Henderson, who was not affiliated with the study.
“What the field has been looking for for a long time is a biomarker, something that essentially tells you that biologically you have Parkinson’s disease before symptoms are present in patients,” he said. “What this study does is expand what the field is trying to do.”
The test, called the alpha-synuclein seed amplification assay, uses a patient’s spinal fluid to detect synuclein pathology – one of the two biological hallmarks of Parkinson’s, according to scientists at the Parkinson’s Progression Markers Initiative.
The study of more than 1,000 people enrolled between 2010 and 2019 included people who developed Parkinson’s, or had genetic or clinical risk factors but no diagnosis, and control volunteers.
While the test doesn’t replace an expert evaluation, it could “shape how and when we diagnose Parkinson’s,” Dr. Rachel Dolhun, senior vice president of medical communications for the Michael J. Fox Foundation.
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‘A new, biological era’
The findings may also influence drug development and clinical care, said principal investigator Dr. Kenneth Marek, president and senior scientist at the Institute for Neurodegenerative Disorders.
“The validation of this biomarker launches a new, biological era in Parkinson’s research,” he said. “We are quickly in a position to test new therapies in the right populations, target the right therapy to the right patient at the right time, and launch studies of agents that have the potential to prevent disease that Parkinson’s as a whole.”
The test, called the SYNTap test by biotech company Aprion, can be used by physicians to order for patients showing symptoms of Parkinson’s or a related disorder. But treatment options may need to catch up before doctors can use them in the clinical setting, Henderson said.
“There’s no real goal in improving our diagnosis necessarily unless we have specific treatments for patients,” he said. If someone tests positive, “it won’t make any difference because the standard of treatment is the same.”
Famous people diagnosed with Parkinson’s include actors Michael J. Fox and Alan Alda, boxer and humanitarian Muhammad Ali, and singers Linda Ronstadt and Neil Diamond.
“There are many ways that I am involved in the work of the Foundation, but I came to this result first and foremost as a Parkinson’s patient,” Fox said in a statement about the study. “I am deeply moved by this extraordinary achievement and endlessly grateful to the researchers, study participants and funders who worked so hard to bring us this far.
“Together we are creating a cure for the inevitable Parkinson’s.”
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Contributor: Karen Weintraub, USA TODAY. Follow Adrianna Rodriguez on Twitter: @AdriannaUSAT.
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