New protein test can accurately detect Parkinson’s disease

For this study, over 1,100 participants were enrolled, of those, nearly half had previously been diagnosed with Parkinson's disease.
Mrigakshi Dixit
3D rendered image of neuron cell network.
3D rendered image of neuron cell network.


Parkinson's disease is a brain disorder that causes uncontrollable movements such as difficulty balancing, and shaking, and leads to other mental health issues. 

As the symptoms worsen, people have difficulty performing daily tasks such as walking or talking. Because there is no way to diagnose Parkinson's early on, a medical professional can only identify Parkinson's with the development of symptoms.

To address this, the researchers at the University of Pennsylvania conducted the largest brain analysis that led to the discovery of a potential "game-changer" test for this life-threatening disease. 

Excessive accumulation of protein

They discovered that the person with Parkinson's disease had an abnormal accumulation of a tiny neuronal protein called alpha-synuclein. They used a technique, called αSyn-SAA, which detected it along with "misfolded" protein clusters among the patients. This technique stands for α-synuclein seed amplification assays.

"Our findings suggest that the αSyn-SAA technique is highly accurate at detecting the biomarker for Parkinson's disease regardless of the clinical features, making it possible to accurately diagnose the disease in patients at early stages. Moreover, our results indicate that misfolded α-synuclein is detectable before dopaminergic damage in the brain is about to be observed by imaging, suggesting ubiquitous spread of these misfolded proteins before substantial neuronal damage has occurred," said Luis Concha, co-lead author, in a statement.

For this study, over 1,100 participants were enrolled, of those, nearly half had previously been diagnosed with Parkinson's disease. Cerebrospinal fluid (the fluid surrounding the brain and spinal cord) was collected from each study participant.

Using the Syn-SAA technique, the authors were able to detect people with Parkinson's disease with "high accuracy, with positive results in 88% of all participants with a diagnosis." 

This research is critical in developing potential tests that will lead to earlier diagnoses in people. According to the World Health Organization, this debilitating disease is the second most common neurodegenerative disease after Alzheimer's, affecting over 8.5 million people across the world.

The findings are published in The Lancet Neurology journal.

Study abstract:

Emerging evidence shows that α-synuclein seed amplification assays (SAAs) have the potential to differentiate people with Parkinson's disease from healthy controls. We used the well characterised, multicentre Parkinson's Progression Markers Initiative (PPMI) cohort to further assess the diagnostic performance of the α-synuclein SAA and to examine whether the assay identifies heterogeneity among patients and enables the early identification of at-risk groups. This cross-sectional analysis is based on assessments done at enrolment for PPMI participants (including people with sporadic Parkinson's disease from LRRK2 and GBA variants, healthy controls, prodromal individuals with either rapid eye movement sleep behaviour disorder (RBD) or hyposmia, and non-manifesting carriers of LRRK2 and GBA variants) from 33 participating academic neurology outpatient practices worldwide (in Austria, Canada, France, Germany, Greece, Israel, Italy, the Netherlands, Norway, Spain, the UK, and the USA)

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