Abstract Details

Title Cutaneous Alpha-Synuclein Detection in Patients with Suspected Synucleinopathies

Topic Movement Disorders

Presentation(s) S36 - Movement Disorders: Clinical and Pathologic Characterization of Neurodegenerative Movement Disorders (1:48 PM-2:00 PM)

Poster/Presentation
Number 005

Background The accurate diagnosis of patients with suspected synucleinopathies is challenging even for disease specialists. Clinical testing for cutaneous P-SYN has altered the diagnostic evaluation of patients with Parkinson’s disease (PD), multiple system atrophy (MSA), dementia with Lewy bodies (DLB) and pure autonomic failure (PAF).

Objective

To describe specialist’s use of cutaneous phosphorylated α-synuclein (P-SYN) testing in patients with suspected synucleinopathies.

Design/Methods We reviewed the medical records of 97 patients with suspected synucleinopathy from disease specialists. A panel of physicians reviewed the records and established a diagnosis of possible or probable PD, MSA, DLB, PAF or undifferentiated synucleinopathy. Demographics, P-SYN deposition by biopsy location, intra-epidermal nerve fiber density (IENFD), ancillary testing and other co-morbid medical conditions are reported.

Results P-SYN was detected in 58/97(60%) total cases. Positive cases included 4/5(80%) with probable PD, 19/28(68%) with possible PD, 25/47(53%) with possible undifferentiated synucleinopathy, 1/3(33%) with possible DLB, 2/2(100%) with probable DLB, and 6/11(55%) with possible PAF. Of 39 P-SYN negative cases other potential diagnoses included peripheral neuropathy (N=10), essential tremor (N=9), drug-induced parkinsonism (N=8), vascular parkinsonism (n=8), Alzheimer’s (N=6) and PSP (N=4). Of 58 positive cases, other comorbidities included diabetes (N=12), vascular disease (N=7), Alzheimer’s (N=7), drug-induced parkinsonism (N=7), and peripheral neuropathy (N=6). A peripheral small fiber neuropathy, as detected by reduced IENFD, was seen in 36% of negative cases and 63% of positive cases (P<0.01).

Conclusions We report that P-SYN was detected in 57% of cases of possible synucleinopathy and 86% of cases of probable synucleinopathy consistent with prior post-mortem evaluations of synucleinopathy patients. There is a significant increase in small fiber neuropathy in patients with pathological evidence of synuclein deposition. Detection of peripheral P-SYN offers pathological confirmation of the presence of a synucleinopathy and can make an important contribution to synucleinopathy diagnosis and management.

Authors/Disclosures
Christopher H. Gibbons, MD, FAAN (Beth Israel Deaconess Medical Center) PRESENTER	Dr. Gibbons has received personal compensation in the range of $500-$4,999 for serving as an Editor, Associate Editor, or Editorial Advisory Board Member for Autonomic Neuroscience. Dr. Gibbons has stock in CND Life Sciences. Dr. Gibbons has received publishing royalties from a publication relating to health care. Dr. Gibbons has received personal compensation in the range of $5,000-$9,999 for serving as a Expert Advisor with Department of Justice.
	No disclosure on file
Roy L. Freeman, MD (Beth Israel Deaconess Hosp)	Dr. Freeman has received personal compensation in the range of $10,000-$49,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Regenacy. Dr. Freeman has received personal compensation in the range of $100,000-$499,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Neurobo. Dr. Freeman has received personal compensation in the range of $5,000-$9,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Vertex. Dr. Freeman has received personal compensation in the range of $5,000-$9,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Eli-Lilly. Dr. Freeman has received personal compensation in the range of $5,000-$9,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Theravance. Dr. Freeman has received personal compensation in the range of $10,000-$49,999 for serving as an officer or member of the Board of Directors for Inhibikase. Dr. Freeman has received personal compensation in the range of $10,000-$49,999 for serving as an Editor, Associate Editor, or Editorial Advisory Board Member for Elsevier. Dr. Freeman has stock in Neurobo. Dr. Freeman has stock in Cutaneous NeuroDiagnostics. The institution of Dr. Freeman has received research support from NIH. The institution of Dr. Freeman has received research support from Theravance. The institution of Dr. Freeman has received research support from Biohaven. The institution of Dr. Freeman has received research support from Lundbeck.
Todd D. Levine, MD (Honor Health)	Dr. Levine has received personal compensation for serving as an employee of CND life sciences . Dr. Levine has received personal compensation in the range of $100,000-$499,999 for serving as a Consultant for Nufactor. Dr. Levine has received personal compensation in the range of $10,000-$49,999 for serving on a Speakers Bureau for Grifols. Dr. Levine has received personal compensation in the range of $50,000-$99,999 for serving as an Expert Witness for PNA. Dr. Levine has stock in CND Life Sciences. Dr. Levine has stock in Corinthian reference lab.