CND Life Sciences’ senior scientific advisors Dr. Christopher Gibbons and Dr. Roy Freeman and two members of CND’s scientific team, Todd Levine, MD, and Bailey Bellaire, presented the results of their study titled “Cutaneous Alpha-Synuclein Detection in Patients with Suspected Synucleinopathies” at the Pan American Parkinson’s Disease and Movement Disorders Congress last month in Miami.
The recent availability of commercial testing for cutaneous phosphorylated alpha-synuclein (P-SYN) has altered the diagnostic evaluation of patients with suspected synucleinopathies. The objective of the study was to determine the concordance between the presence of cutaneous P-SYN and clinical diagnosis.
The authors performed a retrospective chart review of 207 patients with suspected synucleinopathy who underwent skin biopsy testing for P-SYN at CND Life Sciences. Drs. Gibbons, Freeman, and Levine reviewed the medical records for each patient and used consensus guidelines to establish a diagnosis of possible or probable Parkinson’s disease, multiple system atrophy, dementia with Lewy bodies, pure autonomic failure, or undifferentiated synucleinopathy.
Of the 207 patients screened, 181 were included in the study; 107 of these had biopsies that revealed P-SYN for a 61% overall positivity rate. Patients determined to have a diagnosis of ‘probable disease’ based on clinical criteria were more likely to have positive biopsies than those with ‘possible disease’ (79% P-SYN positive vs 56% P-SYN positive, respectively). Based on reviews of medical records, suspected diagnoses in P-SYN-negative patients included peripheral neuropathy, essential tremor, drug-induced parkinsonism, vascular parkinsonism, Alzheimer’s, and progressive supranuclear palsy.
The authors conclude that detection of cutaneous P-SYN offers pathological confirmation of the presence of a synucleinopathy and can make an important contribution to the diagnosis and management of neurodegenerative conditions.