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Abstract Details

An Analysis of the Number of Skin Biopsies Needed in the Detection of Phosphorylated Alpha-Synuclein
Movement Disorders
P9 - Poster Session 9 (11:45 AM-12:45 PM)
5-021
To determine the optimal number of skin biopsies necessary for accurate detection of phosphorylated alpha-synuclein (PSYN) and peripheral nerve degeneration. 

Parkinson’s disease (PD), dementia with Lewy bodies (DLB), multiple system atrophy (MSA) and pure autonomic failure (PAF) are neurodegenerative disease characterized by deposition of PSYN.  Detection of cutaneous PSYN has resulted in substantive changes to the clinical diagnostic pathway. 

We studied 2 groups of patients.  The first group included 432 participants from the Syn-One study (JAMA 2024, PMID:38506839) which included healthy controls, PD, MSA, DLB, and PAF confirmed by an expert panel of physicians.  A second cohort included 6966 patients with clinical testing performed at CND Life Sciences for evaluation of possible synucleinopathy.  Suspected diagnosis was established using ICD-10 codes and included 5127 with PD, 143 with MSA, 824 with DLB, 199 with PAF and 673 unknown diagnoses. All subjects had skin biopsies taken at the posterior cervical, distal thigh and distal leg regions.
In the Syn-One study cohort (using clinically confirmed diagnostic criteria), cutaneous PSYN was missed in up to 62% of cases with 1 biopsy and missed in up to 34% with 2 biopsies.  In the ICD-10 cohort, cutaneous P-SYN was missed in up to 58% of cases with 1 biopsy and 37% with 2 biopsies. Proximal biopsies had a higher yield for P-SYN but missed the majority of cases of peripheral nerve degeneration. 
While proximal skin biopsies may provide a high diagnostic yield in some synucleinopathy subtypes with clinically confirmed disease, limiting skin biopsy protocols to fewer than three biopsies will result in a clinically significant percent of false negative tests that will increase as diagnostic certainty decreases. Furthermore, the diagnostic discrimination of synuclein subtyping provided by deposition pattern and distribution is lost with fewer than 3 biopsies.
Authors/Disclosures
Todd D. Levine, MD (Honor Health)
PRESENTER 		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 $50,000-$99,999 for serving as an Expert Witness for PNA. Dr. Levine has or had stock in CND Life Sciences.Dr. Levine has or had stock in Corinthian reference lab.
Bailey Bellaire (CND Life Sciences) Bailey Bellaire has received personal compensation for serving as an employee of CND Life Sciences.
Roy L. Freeman, MD (Beth Israel Deaconess Hosp) Dr. Freeman has received personal compensation in the range of $50,000-$99,999 for serving as a Consultant for Cutaneous Diagnostic Life Sciences. Dr. Freeman has received personal compensation in the range of $10,000-$49,999 for serving as a Consultant for Vertex. Dr. Freeman has received personal compensation in the range of $10,000-$49,999 for serving as a Consultant 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. 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. Dr. Freeman has received research support from Regeneron.
Christopher H. Gibbons, MD, FAAN (Beth Israel Deaconess Medical Center) Dr. Gibbons has received personal compensation for serving as an employee of CND Life Sciences. Dr. Gibbons has or had stock in CND Life Sciences.Dr. Gibbons has received publishing royalties from a publication relating to health care.