Researchers here demonstrate that the presence of phosphorylated α-synuclein in a skin biopsy is a good indicator of the presence of Parkinson's disease and other synucleinopathies. A skin biopsy is a more invasive procedure than most people want to undergo, but a greater ability to diagnose progressive diseases in their early stages will nonetheless tend to encourage the development of a greater ability to manage, treat, and avoid the later stages.
Affecting an estimated 2.5 million people in the United States, the synucleinopathies include Parkinson's disease (PD), dementia with Lewy bodies (DLB), multiple system atrophy (MSA), and pure autonomic failure (PAF). While the four progressive neurodegenerative diseases have varying prognoses and do not respond to the same therapies, they do share some overlapping clinical features such as tremors and cognitive changes. Additionally, all are characterized by the presence of an abnormal protein present in the nerve fibers in the skin called phosphorylated α-synuclein (P-SYN).
In this investigation, titled the Synuclein-One Study, researchers enrolled 428 people, ages 40-99 years, with a clinical diagnosis of one of the four synucleinopathies based on clinical criteria and confirmed by an expert panel or were healthy control subjects with no history of neurodegenerative disease. Participants underwent three 3-millimeter skin punch biopsies taken from the neck, the knee, and the ankle.
Among the participants with clinically confirmed PD, 93 percent demonstrated a positive skin biopsy for P-SYN. Participants with DLB and MSA tested 96 percent and 98 percent positive, respectively. One hundred percent of participants with PAF were positive for the abnormal protein. Among the controls, just over 3 percent tested positive for P-SYN - an error rate the authors suspect may indicate some of the healthy controls are at risk for a synucleinopathy. "Parkinson's disease and its subgroup of progressive neurodegenerative diseases show gradual progression, but alpha-synuclein is present in the skin even at the earliest stages."
Link: https://www.eurekale...eleases/1038327
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