Practical NeurologyBlood-Based Biomarker Test Highly Effective At Identifying Those at Risk of Developing Parkinson Disease

Pioneering Blood Test Unveils Early Parkinson’s Disease Risk Through Biomarker Discovery

Recent findings published in JAMA Neurology reveal a significant breakthrough in the early detection of Parkinson’s Disease (PD) and related dementias through a blood-based biomarker test. The study demonstrates the effectiveness of measuring L1CAM-positive extracellular vesicle (L1EV) α-synuclein serum levels as a predictor for developing PD. This advancement offers a promising avenue for early intervention and underscores the importance of biomarker research in understanding and managing neurodegenerative diseases.

Key Points:

• The study included participants at risk of PD, those with genetic or sporadic PD, and healthy controls, utilizing electrochemiluminescence to measure α-synuclein in serum L1EVs.
• Elevated L1EV α-synuclein levels were associated with a higher risk of developing PD or related dementia, marking a significant step forward in early PD identification.
• Participants with isolated rapid eye movement sleep behavior disorder (iRBD) showed a roughly 2-fold increase in L1EV α-synuclein levels compared to healthy controls.
• The test differentiated individuals with a more than 80% probability of prodromal PD from healthy controls with a high degree of accuracy (AUC=0.90).
• In a subgroup of individuals who eventually developed PD or related dementia, over 80% had elevated L1EV α-synuclein levels up to 7 years before diagnosis.
• L1EV α-synuclein levels correlated with dopaminergic neurodegeneration, being highest in participants with abnormal dopamine transporter single-photon emission CT (DaT SPECT) results.
• The study suggests this blood-based test could serve as an accessible tool for early PD and dementia identification, potentially leading to earlier and more targeted interventions.
• Dr. George Tofaris highlighted the translational potential of α-synuclein biology investigations into a clinical biomarker for Parkinson’s risk stratification and identification.

“Collectively our studies demonstrate how fundamental investigations in α-synuclein biology can be translated into a biomarker for clinical application, in this case for the identification and stratification of Parkinson’s risk. A screening test that could be implemented at scale to identify the disease process early is imperative for the eventual instigation of targeted therapies as is currently done with screening programs for common types of cancer.”
– Dr. George Tofaris, Study Author

More on Movement Disorders