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Abstract Details

Clinical Utility of Skin Biopsy for Cutaneous Phosphorylated Alpha-synuclein in Cognitive Manifestations of Lewy Body Disease
Aging, Dementia, and Behavioral Neurology
P1 - Poster Session 1 (11:45 AM-12:45 PM)
3-012

To evaluate the frequency of positive skin biopsies for alpha-synuclein in patients with cognitive symptoms in an academic memory clinic.
The clinical presentation of dementia with Lewy bodies (DLB) is complex and diagnostically challenging. Immunohistochemically detected cutaneous phosphorylated alpha-synuclein was reported in 96% of DLB cases in a prior study in those meeting strict consensus criteria for DLB. The utility of this test in clinical practice and those with prodromal DLB (mild cognitive impairment, MCI-LB) is unknown. 
Forty-nine patients with cognitive symptoms underwent commercially available skin biopsy at three sites (posterior cervical, distal thigh, distal leg) for cutaneous phosphorylated alpha-synuclein as part of their clinical evaluation. Retrospective chart review determined if individuals met published criteria for probable DLB or MCI-LB, blinded to skin biopsy result. Descriptive statistics are reported.
Average age at skin biopsy was 70.0±1.4 years, with 80% male. Thirty-two patients (65%) had a positive skin biopsy (at least one of three sites). Of the 39 patients who met blinded clinical criteria for DLB/MCI-LB, 27 (69%) had a positive skin biopsy with similar frequency between subgroups (DLB 65%; MCI-LB 78%). Of the 31 patients who were determined to have DLB/MCI-LB by the treating physician, 27 (87%) had a positive skin biopsy, with the 3 of 4 negative tests having FDG-PET hypometabolism supportive of DLB. In 80% of cases, the skin biopsy result supported the initial suspected diagnosis. Of 18 patients thought not to have synucleinopathy, 5 (28%) had a positive skin biopsy. Alternative diagnoses in biopsy positive cases were anti-DPPX autoimmunity, anti-GFAP autoimmunity, hydrocephalus/epilepsy, OSA/anxiety, and refractory depression. 
Positive skin biopsy for phosphorylated alpha-synuclein is common in prodromal and overt DLB, however, at a lower frequency than previously reported. Given the heterogenous presentations of DLB, more studies are needed to optimize clinical utility. 
Authors/Disclosures
Michael Rigby, MD, PhD
PRESENTER 		Dr. Rigby has nothing to disclose.
Hugo Botha, MD (Mayo School of Graduate Medical 好色先生, Rochester) Dr. Botha has received research support from NIH. An immediate family member of Dr. Botha has received personal compensation in the range of $500-$4,999 for serving as a Study Section Member with NIH.
Leland Barnard (Mayo Clinic) Leland Barnard has nothing to disclose.
Zachary A. Trottier Mr. Trottier has nothing to disclose.
Aaron R. Switzer, MD Dr. Switzer has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Eisai Company Limited.
Vijay K. Ramanan, MD, PhD (Mayo Clinic) The institution of Dr. Ramanan has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Daridorexant trial for AD prevention (funded by Weston Family Foundation). The institution of Dr. Ramanan has received research support from the National Institutes of Health. The institution of Dr. Ramanan has received research support from the Mangurian Foundation for Lewy Body Disease Research. The institution of Dr. Ramanan has received research support from as part of clinical trials sponsored by the Alzheimer's Association, Eisai, the Alzheimer's Treatment and Research Institute at USC, and Transposon Therapeutics, Inc.. The institution of Dr. Ramanan has received research support from Medscape. The institution of Dr. Ramanan has received research support from Expert Perspectives in Medicine. The institution of Dr. Ramanan has received research support from Roche/ADLM. The institution of Dr. Ramanan has received research support from American College of Radiology. Dr. Ramanan has received personal compensation in the range of $500-$4,999 for serving as a Conference Speaker/Organizer (Honoraria) with AANI. Dr. Ramanan has received personal compensation in the range of $500-$4,999 for serving as a Speaker/CME Content with Clinical Care Options.
Bryan J. Neth, MD, PhD (Mayo Clinic) Dr. Neth has nothing to disclose.
Rodolfo Savica, MD, PhD, FAAN (Mayo Clinic) The institution of Dr. Savica has received research support from ACADIA Pharmaceuticals, Inc.
David T. Jones, MD (Mayo Clinic) Dr. Jones has stock in Cephlodyne Neurotechnologies, Inc.. Dr. Jones has received intellectual property interests from a discovery or technology relating to health care.
Toji Miyagawa, MD, PhD (Mayo Clinic) Dr. Miyagawa has nothing to disclose.
Erik K. St. Louis, MD (Mayo Clinic) The institution of Dr. St. Louis has received research support from NIH. Dr. St. Louis has received publishing royalties from a publication relating to health care. Dr. St. Louis has received publishing royalties from a publication relating to health care.
David S. Knopman, MD, FAAN (Mayo Clinic) Dr. Knopman has received personal compensation in the range of $5,000-$9,999 for serving on a Scientific Advisory or Data Safety Monitoring board for DIAN TU study. The institution of Dr. Knopman has received research support from NIH.
Ronald C. Petersen, MD, PhD, FAAN (Mayo Clinic) Dr. Petersen has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Roche. Dr. Petersen has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Genentech. Dr. Petersen has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Eli Lilly and Co.. Dr. Petersen has received personal compensation in the range of $0-$499 for serving as a Consultant for Eisai, Inc.. Dr. Petersen has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Novo Nordisk. Dr. Petersen has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Novartis. Dr. Petersen has received publishing royalties from a publication relating to health care. Dr. Petersen has received publishing royalties from a publication relating to health care. Dr. Petersen has received publishing royalties from a publication relating to health care. Dr. Petersen has a non-compensated relationship as a Board of Directors with American Brain Foundation that is relevant to AAN interests or activities.
Jonathan Graff-Radford, MD, FAAN Dr. Graff-Radford has received personal compensation for serving as an employee of Mayo Clinic. Dr. Graff-Radford has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for NINDS/NIH. Dr. Graff-Radford 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 JAMA Neurology. Dr. Graff-Radford has received personal compensation in the range of $5,000-$9,999 for serving as an Editor, Associate Editor, or Editorial Advisory Board Member for Open evidence . The institution of Dr. Graff-Radford has received research support from NIH. The institution of Dr. Graff-Radford has received research support from Eisai. The institution of Dr. Graff-Radford has received research support from Cognition therapeutics. Dr. Graff-Radford has received personal compensation in the range of $5,000-$9,999 for serving as a Faculty Member with IMPACT AD .
Bradley F. Boeve, MD, FAAN (Mayo Clinic) Dr. Boeve 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 Rainwater Charitable Foundation. The institution of Dr. Boeve has received research support from Alector. The institution of Dr. Boeve has received research support from EIP Pharma. The institution of Dr. Boeve has received research support from Transposon. The institution of Dr. Boeve has received research support from Cognition Therapeutics. Dr. Boeve has received publishing royalties from a publication relating to health care.
Stuart J. McCarter, MD (Mayo Clinic) The institution of Dr. McCarter has received research support from NIH. The institution of Dr. McCarter has received research support from American Academy of Sleep Medicine Foundation.