In a recent study, researchers have demonstrated that the presence of phosphorylated α-synuclein in a skin biopsy can serve as a reliable indicator of Parkinson’s disease and other synucleinopathies. Despite being a more invasive procedure, the ability to diagnose these progressive diseases in their early stages can greatly enhance the development of effective management, treatment, and prevention strategies for the later stages.
Synucleinopathies, including Parkinson’s disease (PD), dementia with Lewy bodies (DLB), multiple system atrophy (MSA), and pure autonomic failure (PAF), affect an estimated 2.5 million people in the United States. While these neurodegenerative diseases have different prognoses and responses to therapies, they share common clinical features like tremors and cognitive changes, and are characterized by the presence of phosphorylated α-synuclein (P-SYN) in nerve fibers in the skin.
The Synuclein-One Study involved 428 participants with confirmed synucleinopathies or as healthy controls. Skin biopsies from the neck, knee, and ankle revealed a high percentage of positive P-SYN results in PD, DLB, MSA, and PAF cases. Even in the earliest stages, alpha-synuclein was present in the skin of individuals with these diseases, indicating a potential for early diagnosis.
