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Abstract Details

Biosignatures to Distinguish MSA from PD
Autonomic Disorders
P10 - Poster Session 10 (8:00 AM-9:00 AM)
7-001
To create a clinical-pathological algorithm to distinguish MSA from PD with diagnostic certainty.  
Multiple system atrophy (MSA) and Parkinson’s disease (PD) have overlapping clinical phenotypes that create diagnostic dilemmas, particularly early in the disease course.
After consent, patients with MSA and PD completed neurologic examinations, medical history review, cognitive evaluation, orthostatic vital signs and neurodegenerative disease questionnaires.  Skin biopsies at the distal leg, distal thigh and posterior cervical sites were performed on all participants with quantitation of P-SYN by location, amount and nerve fiber subtype involvement.  Clinical, demographic and pathological data were combined using unbiased weighted cluster analysis into an algorithm to differentiate the two disease states based on a training data set, with blinded prospective testing in a validation cohort.
The training data set included 25 patients each with MSA and PD.  The validation cohort included an independent group of 30 patients each with MSA and PD.  Patients with MSA tended to be younger (67±6.8 vs 71±7.3, P<0.05), with greater synuclein deposition (8.6±4.1 vs 4.5±2.8, P<0.01).  The training set identified demographic, clinical and pathological data that could be integrated into a predictive algorithm for diagnosis.  The algorithm correctly identified 24/25 PD and MSA in the training set.  In the validation data set, 33/35 PD and 32/35 MSA cases were correctly identified providing 92.8% accuracy in diagnosing MSA and PD.    
Differentiation between neurodegenerative diseases, such as MSA and PD, remains challenging.  The overlapping phenotypes lead to high rates of misdiagnosis in the absence of accurate diagnostic tools.  These results, using a clinical-pathological scoring system, suggest that is possible  to differentiate between major synucleinopathy subtypes with high diagnostic accuracy.    
Authors/Disclosures
Roy L. Freeman, MD (Beth Israel Deaconess Hosp)
PRESENTER 		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.
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 $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.
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.