A newly developed assay technique has the potential to aid in the early detection of Parkinson’s disease and significantly impact its clinical diagnosis.
The technique, known as α-synuclein seed amplification assay (αSyn-SAA), identifies the build-up of abnormal protein deposits related to Parkinson’s.
The research, published in The Lancet Neurology, suggests that αSyn-SAA can detect those at risk of developing Parkinson’s disease and those with early, non-motor symptoms before the diagnosis.
αSyn-SAA: A Powerful Biomarker for Parkinson’s Disease
Misfolded α-synuclein protein aggregates in the brain are the pathological hallmark of Parkinson’s disease.
The αSyn-SAA technique amplifies very small amounts of these aggregates to a point where they can be detected using standard laboratory techniques.
According to the researchers, this new technique could drastically improve the diagnosis of Parkinson’s disease and potentially speed up clinical trials.
Professor Andrew Siderowf, of the University of Pennsylvania Perelman School of Medicine, says, “Identifying an effective biomarker for Parkinson’s disease pathology could have profound implications for the way we treat the condition, potentially making it possible to diagnose people earlier, identify the best treatments for different subsets of patients, and speed up clinical trials.”
Study Results: High Accuracy in Early Detection
The study, which is the largest analysis of the diagnostic performance of αSyn-SAA for Parkinson’s disease, included 1,123 participants.
They were individuals with a diagnosis of Parkinson’s disease and at-risk individuals with gene variants (GBA and LRRK2) linked to the condition.
“Prodromal” participants, who showed early non-motor symptoms such as sleep disturbance or loss of smell, were also included.
The αSyn-SAA technique detected Parkinson’s disease with high accuracy, with positive results in 88% of all diagnosed participants.
Even among prodromal participants, most had positive αSyn-SAA results, indicating they had α-synuclein aggregates despite not yet being diagnosed with Parkinson’s disease.
This suggests that αSyn-SAA could be a very early indicator of disease onset.
Link Between αSyn-SAA and Loss of Smell
One interesting finding was that loss of smell—a common symptom in early Parkinson’s disease—strongly predicted a positive αSyn-SAA result.
Among all participants with Parkinson’s disease who had loss of smell, 97% had positive αSyn-SAA compared to 63% of those whose sense of smell was unchanged.
This suggests that α-synuclein pathology may be present even before there is a measurable loss of sense of smell.
Potential Limitations and Future Directions
While the results are promising, the authors acknowledged that there are some limitations.
More samples are needed to improve analyses, and longer-term studies are required to further investigate differences in αSyn-SAA results between people with different genetic forms of Parkinson’s disease.
Writing in a linked Comment, Professors Daniela Berg and Christine Klein, not involved in the study, called αSyn-SAA a “game-changer” in Parkinson’s disease diagnostics, research, and treatment trials.
They suggest that for αSyn-SAA to reach its full potential, blood tests need to be developed to increase scalability.
The αSyn-SAA technique is a potentially revolutionary development in Parkinson’s disease diagnostics.
By allowing early detection of the disease and identifying those at risk, it may lead to better treatment strategies and improved outcomes for patients.
Further research is needed to overcome limitations and harness its full potential.
The study was published in The Lancet Neurology.
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