Parkinson’s disease and related disorders such as dementia with Lewy bodies and multiple system atrophy can be difficult to diagnose, especially in the early stages when their clinical features frequently overlap with other conditions. Patients may remain without an accurate diagnosis for several years, exposing them to suboptimal or ineffective treatment plans.
The Syn-One Test was developed to provide clinicians with a more objective tool to aid in the diagnosis of the group of neurological disorders known as synucleinopathies. Its sensitivity and specificity have been demonstrated in previous research. A study looking at the clinical utility of the test was published in 2024 in Frontiers in Neurology.
The study looked at 455 patients who underwent skin biopsy testing for the presence of phosphorylated alpha-synuclein (P-SYN) at Beth Israel Deaconess Medical Center from 2021 to 2023 with the aim of determining if the results had a meaningful impact on disease management. Patients diagnosed with small fiber neuropathy or pure autonomic failure were excluded, resulting in a final sample of 97 patients.
The biopsy test results led to a change in diagnosis for 60% of P-SYN-positive and 76% of P-SYN-negative patients. Those who presented with prominent action tremor were the most likely to have a change in their diagnosis, either from essential tremor to Parkinson’s disease or vice versa, followed by those who presented with lower-extremity predominant parkinsonism and parkinsonism with predominant cognitive dysfunction. More than half (55%) of patients underwent a change in treatment as a result of the skin biopsy test, most commonly either starting or stopping levodopa.
In a new video, Jonathan Isaacson, MD, lead investigator of the three-year retrospective chart review study, talked about the key study results and their potential impact.
“This test gets us closer to precision medicine, where we can really tailor treatments to the correct diagnosis and have patients be eligible for the correct clinical trials or treatment options based on their clinical diagnosis,” said Dr. Isaacson.
See what else Dr. Isaacson had to say:
