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Abstract Details

Clinical Utility of Synuclein Skin Biopsy in the Initial Diagnosis and Evaluation of Parkinsonian Disorders
Autonomic Disorders
ES2 - Emerging Science 2 (5:36 PM-5:42 PM)
002

The initial diagnosis of Parkinson’s Disease (PD) and related parkinsonian disorders is primarily made clinically, but may be incorrect in up to 25% of patients. Diagnostic accuracy increases with time after initial diagnosis as clinical features and red flags pointing to other disorders emerge. The need for earlier and accurate diagnosis of these progressive neurodegenerative disorders is a major unmet need impacting diagnostic certainty, early symptomatic treatment, and avoidance of inappropriate therapy. Cutaneous nerves in skin biopsies can be stained for PSYN, which is a diagnostic biomarker for degenerative synucleinopathies, including PD, multiple system atrophy and dementia with Lewy bodies.

To determine the clinical utility of phosphorylated alpha-synuclein (P-SYN) within skin biopsies in diagnostic and management decisions.

Retrospective chart review of consecutive patients with suspected parkinsonism seen in the Beth Israel Deaconess Medical Center Department of Neurology from 2021- 2023 who received a skin biopsy for P-SYN as part of their clinical evaluation. Changes to the clinical diagnosis and treatment were assessed after P-SYN biopsy results.

Ninety-Seven consecutive patients were identified and reviewed. Overall, 66% had a change in diagnosis, 55% had a change in treatment, and 34% had a diagnosis confirmed. We identified several common clinical scenarios in which the test led to changes in diagnosis and/or management: PD with unclear levodopa response, idiopathic PD vs. drug induced PD, prominent action tremor (PD vs. essential tremor), lower extremity predominant PD, autonomic predominant PD, memory disorder predominant PD, and early subtle signs of PD. Changes in treatment followed clarification of clinical diagnosis and whether phosphorylated alpha synuclein was identified on skin biopsy.

Skin biopsy for phosphorylated alpha synuclein can improve clinical diagnosis and impact treatment when a diagnosis of parkinsonism is uncertain.

Authors/Disclosures
Jonathan R. Isaacson, MD
PRESENTER
Dr. Isaacson has nothing to disclose.
Christopher H. Gibbons, MD, FAAN (Beth Israel Deaconess Medical Center) 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.
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.