The Synuclein-One study: skin biopsy detection of phosphorylated alpha-synuclein for diagnosis of synucleinopathies

Finding an easily accessible and reliable tool to diagnose the diseases collectively defined as 'synucleinopathies' is an urgent, unmet priority. The synucleinopathies include Parkinson's disease, multiple system atrophy, pure autonomic failure and dementia with Lewy bodies. There are millions of people who have a diagnosis of a synucleinopathy, with more diagnosed every year. With accessibility, ease of implementation, consistently high sensitivity (>80%) and specificity approaching 100%, skin biopsy has great potential as the clinical test of choice for the diagnosis of synucleinopathies. The large, multi-center Synuclein-One study will determine the sensitivity, specificity, accuracy and precision of alpha-synuclein detection within punch skin biopsies in patients with clinically established synucleinopathies using standardized, robust methods suitable for large-scale analysis.

Automated summary

Finding a accessible and reliable tool for diagnosing synucleinopathies is an urgent priority. Skin biopsy has the potential to be the clinical test of choice with its high sensitivity and specificity, as well as its suitability for large-scale analysis.