Health
New Test Detects Early Parkinson’s Disease
For the first time in the study of Parkinson’s disease, a large new study found that laboratory tests analyzing the brain and spinal fluid for a protein cluster called alpha-synuclein were found in people without symptoms such as tremors and slowed or limited movements. , was confirmed to be able to accurately detect Parkinson’s disease. .
Published in the May 2023 issue lancet neurologythe results showed that the lab test could identify abnormal protein accumulation in 88% of all participants with Parkinson’s disease.
Alpha-synuclein is a hallmark of Parkinson’s disease, a neurological disorder that affects approximately one million people in the United States. Parkinson Foundation.
One such American is actor Michael J. Fox, who founded the Michael J. Fox Foundation for Parkinson’s Disease Research. Alpha-synuclein research is part of the Foundation’s research. Parkinson’s Disease Progression Marker Initiative (PPMI).
“There are many ways that I am involved in the work of the Foundation, but first and foremost I have come to this conclusion as a Parkinson’s patient,” said Fox. press release. “I am deeply moved by this breakthrough and am endlessly grateful to the researchers, research participants and funders who have brought us this far. We weren’t fishing for whales, we were chasing whales, and here we are, together creating an inevitable cure for Parkinson’s disease.”
What Happens in the Brains of People with Parkinson’s Disease?
α-Synuclein They are mainly located at the tips of nerve cells (neurons) in the brain. It is believed to aid neuronal function and communication.
However, in patients with Parkinson’s disease, alpha-synuclein can assume an irregular shape. This serves as a template for further misfolding and further aggregation throughout the brain.
lab tests (or assays), Commercially sold as SYNTap from 2021can detect these seeds with amazing accuracy, according to a study involving over 1,100 people.
“The high performance of our assay in such a large number of subjects represents overwhelming evidence that synuclein seeds are biomarkers for Parkinson’s disease and that the SYNTap assay can detect biomarkers for diagnostic purposes.” study co-leader and biochemist said. Dr. Luis Concha, Director of Research and Development at biotech company Amprion.
Who participated in the study?
Study participants, with a mean age of 63 to 68 years, included more than 500 Parkinson’s disease patients, of whom nearly 400 had Parkinson’s disease. sporadic diseaseunexplained, >100 in LRRK2 Gene mutations, and nearly 50 with GBA gene mutations. These mutations are known to increase the risk of Parkinson’s disease.
The study also included more than 300 participants with genetic mutations but no disease symptoms and more than 50 participants with Parkinson’s disease symptoms but no symptoms. dopamine defect About brain scan. People with Parkinson’s disease usually have low levels of dopamine (a hormone) in their brains. A deficiency of dopamine leads to movement disorders such as those seen in Parkinson’s disease.
The analysis also included more than 50 patients who were considered prodromal, a specific disease that may indicate more disease onset than doctors consider when making a formal diagnosis of Parkinson’s disease. This means that there were early signs of
with Parkinson’s disease loss of smell According to the Michael J. Fox Foundation, it’s a common prodromal symptom and is often seen years before a formal diagnosis is made. REM sleep behavior disorder (RBD) is another prodromal symptom. RBD involves punching, punching, and kicking to act out dreams and is associated with significant risk of Parkinson’s disease and similar neurodegenerative disorders.
The study included about 20 people with smell loss and more than 30 people with RBD. , noted that synuclein seeds tested positive.
Parkinson’s Disease Variant-Dependent Test Accuracy
Test results varied among participants with genetic mutations associated with Parkinson’s disease. The proportion of participants with positive test results was highest in GBA Parkinson’s disease patients (96%) and lowest in LRRK2 Parkinson’s disease patients (67.5%).
This suggests that not all cases of Parkinson’s disease are associated with α-synuclein accumulation. Therefore, therapies that inhibit α-synuclein aggregation may be less helpful in the presence of LRRK2 mutations.
New lab test may be more accurate than current brain imaging tests
“These people had a high positive rate with this test, indicating that it may be a good test to diagnose Parkinson’s disease before the onset of Parkinson’s disease. motor symptomssay Rebecca Gilbert, MD, PhD, Chief Scientific Officer of the American Parkinson’s Disease Society. “The data also suggest that detection of alpha-synuclein in cerebrospinal fluid may be positive earlier. DaTscan” DaTscan Imaging test for Parkinson’s disease that evaluates dopamine-containing neurons.
Only about 30% of at-risk individuals who had a positive laboratory test for α-synuclein also showed significant dopamine loss, suggesting that the new test may identify Parkinson’s disease patients earlier than DaTscan imaging. suggests that there is
The earlier the diagnosis of Parkinson’s disease, the better.
Early diagnosis may help patients make early lifestyle changes when their brains are healthier and more responsive to interventions. While there is no one-size-fits-all approach to these lifestyle changes, American Parkinson’s Disease Association A regular exercise schedule can make a big difference to your mobility, and a healthy diet can help maintain strength and promote general well-being.
“Our main focus is a very distressing period during which patients and their families know there is something wrong but can do nothing but wait for the next symptom to confirm the diagnosis. The aim was to provide an accurate test that could reduce the time taken by Dr. Concha.
The study authors stress that tests alone cannot make a definitive diagnosis. If the test is positive, the person may have a related alpha-synuclein disorder such as Parkinson’s disease or dementia. Lewy bodies or multiple system atrophy (MSA).
This test alone cannot distinguish between these disorders, but when used in conjunction with other evaluations, it can help doctors make a specific diagnosis.
New tests and treatments may be on the horizon
The alpha-synuclein test requires the extraction of a fluid sample from the spinal canal using a special needle. Concha and his collaborators are considering nasal swabs, other types of tests that can detect his alpha-synuclein species in the skin. biopsyand blood.
Skin biopsies are already commercially available to detect alpha-synuclein, Dr. Gilbert said, but “it would be great to know if people in the prodromal stage are also positive for this test.” .
According to the study’s authors, the results of this study could pave the way for drug development. As Concha points out, all neurodegenerative diseases present the same challenges. The disease begins years before symptoms appear, and by the time doctors make a diagnosis, the brain damage is probably irreversible.
“Maybe one day we’ll find an effective way to grow new neurons in the brain and fully integrate them with the rest of the neuronal circuitry to undo the damage,” he says. “Until then, the best option is to identify subjects very early on and test drugs that can slow or hopefully even stop the disease early.”
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