A cerebrospinal fluid test may be able to predict who is likely to develop Parkinson’s disease years before the first symptoms appear, according to a new study.
Parkinson’s disease is a degenerative syndrome that causes the slow loss of brain circuits involved in movement, thought and behavior. It is the fastest growing neurodegenerative disease that is diagnosed in around 90,000 people each year, according to a 2022 study.
There are no blood or lab tests that diagnose Parkinson’s disease, said Michael Henderson, a neuroscientist at the Van Andel Institute, a nonprofit biomedical organization dedicated to researching Parkinson’s disease and d other illnesses.
But experts say this test using cerebrospinal fluid could be the first step towards less invasive tests for diagnosing Parkinson’s disease using blood tests or nasal swabs.
“Put simply, this is a major breakthrough with unprecedented implications for the future of Parkinson’s disease, drug development, and ultimately clinical care,” said Deborah W. Brooks, CEO of the Michael J. Fox Foundation, which sponsored the study.
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How is Parkinson’s disease diagnosed?
Current treatment can help reduce symptoms, but Parkinson’s disease is incurable. The syndrome can cause tremors, stiffness, sluggishness, and falls, in addition to anxiety, depression, and sleep disturbances. Experts say most patients are diagnosed at the average age of 60.
The disease is usually diagnosed by a neurologist after a combination of symptom evaluations, possibly a brain scan, and the patient’s response to medication.
But there’s no way to know if someone has Parkinson’s disease without having criteria for movement disorders, such as tremors, slowness of movement, rigidity or postural instability, said Henderson, who is not affiliated with the study.
“What the field has been looking for for a long time is a biomarker, something that basically tells you that biologically you were developing Parkinson’s disease before symptoms were present in patients,” he said. “What this study does is expand what the field has been trying to do.”
The test, called the alpha-synuclein seed amplification test, uses a patient’s cerebrospinal fluid to detect synuclein pathology – one of two biological hallmarks of Parkinson’s disease, scientists say from the Parkinson’s Progression Markers Initiative.
The study of more than 1,000 participants enrolled between 2010 and 2019 included people with Parkinson’s disease or with genetic or clinical risk factors but no diagnosis, and control volunteers.
While the test does not replace an expert diagnosis, it has the potential to “shape how and when we diagnose Parkinson’s disease,” said Dr. Rachel Dolhun, senior vice president of medical communications for the Michael J Foundation. .Fox.
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“A new biological era”
The study results could also impact drug development and clinical care, said lead researcher Dr. Kenneth Marek, president and principal investigator at the Institute for Neurodegenerative Diseases.
“The validation of this biomarker launches a new biological era in Parkinson’s disease research,” he said. “We will quickly be able to test new therapies in the right populations, target the right therapy to the right patient at the right time, and initiate studies of agents that together may prevent Parkinson’s disease.
The test, called the SYNTap test by biotech company Amprion, is available to doctors on order for patients who show symptoms of Parkinson’s disease or a related disorder. But treatment options may need to catch up before doctors use it more in clinical settings, Henderson said.
“There’s really no reason to improve our diagnosis unless we have specific treatments for these patients,” he said. If someone were to test positive, “it wouldn’t make any difference because the standard of treatment is the same”.
Well-known people who have been diagnosed with Parkinson’s disease include actors Michael J. Fox and Alan Alda, boxer and humanitarian Muhammad Ali, and singers Linda Ronstadt and Neil Diamond.
“There are many ways in which I am involved in the Foundation’s work, but I come to this result first and foremost as a patient with Parkinson’s disease,” Fox said in a statement. ‘study. “I am deeply moved by this breakthrough and infinitely grateful to the researchers, study participants and funders who have worked to get us this far.”
“Together, we are making a cure for Parkinson’s disease inevitable.”
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Contributor: Karen Weintraub, USA TODAY. Follow Adrianna Rodriguez on Twitter: @AdriannaUSAT.
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