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Abstract Details

Performance of Skin Biopsy for Cutaneous Phosphorylated Alpha-synuclein in Autonomic Disorders
Neuromuscular and Clinical Neurophysiology (EMG)
P2 - Poster Session 2 (8:00 AM-9:00 AM)
7-010

To assess performance and clinical characteristics of skin biopsy for phosphorylated alpha-synuclein in autonomic dysfunction at an academic neurology center.

The clinical diagnosis of synucleinopathies can be challenging warranting development of reliable biomarkers. Cutaneous phosphorylated alpha-synuclein was found in 98.2-100% of those meeting clinical consensus criteria for multiple system atrophy (MSA) and 100% of those with pure autonomic failure (PAF); the pattern of positivity was more widespread in MSA/PAF compared to Parkinson’s disease.

Six patients presenting with autonomic dysfunction underwent commercially available skin biopsy at three sites (posterior cervical, distal thigh, distal leg) to assess for phosphorylated alpha-synuclein via immunohistochemistry. Autonomic reflex screen (ARS) results were quantified using the Composite Autonomic Scoring Scale (CASS, range 0-10). Thermoregulatory sweat test (TST) evaluated regions and percentage of anhidrosis. 
Median age was 63 years old (range 57-83) with 1 of 6 (17%) female. Skin biopsy was positive for phosphorylated alpha-synuclein in 3 of 6 (50%) cases. Two patients with positive biopsies (all 3 sites involved) met criteria for clinically established MSA-C thus supporting the diagnosis. One patient with positive biopsy did not meet clinical criteria for a synucleinopathy and was diagnosed with autonomic neuropathy. Of those with negative biopsies, one met criteria for clinically established MSA-C, one was diagnosed with sporadic adult onset ataxia, and one was diagnosed with progressive supranuclear palsy. Those with positive skin biopsies had CASS ≥5 versus those with negative skin biopsies with CASS ≤3. Those with positive biopsies had higher degree of anhidrosis on TST (median 10.2% vs 6.5%). There was no association between presence of cutaneous phosphorylated alpha-synuclein at biopsy locations and regions of anhidrosis on TST or sudomotor function on ARS.
In this small case series, higher CASS and percent anhidrosis on TST was associated with presence of cutaneous phosphorylated alpha-synuclein. 
Authors/Disclosures
Michael Rigby, MD, PhD
PRESENTER 		Dr. Rigby has nothing to disclose.
Elizabeth A. Coon, MD, FAAN (Mayo Clinic) Dr. Coon has received publishing royalties from a publication relating to health care. Dr. Coon has a non-compensated relationship as a Non-Voting Member of the Board of Directors with UCNS that is relevant to AAN interests or activities.
Zachary A. Trottier Mr. Trottier has nothing to disclose.
Wolfgang Singer, MD, FAAN (Mayo Clinic) Dr. Singer has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Biohaven. The institution of Dr. Singer has received personal compensation in the range of $10,000-$49,999 for serving as a Consultant for Lundbeck. Dr. Singer has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Ionis. Dr. Singer has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Yoda. Dr. Singer 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. Singer has received personal compensation in the range of $5,000-$9,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Ferrer. The institution of Dr. Singer has received research support from NIH. The institution of Dr. Singer has received research support from FDA. The institution of Dr. Singer has received research support from Michael J. Fox Foundation. Dr. Singer has received intellectual property interests from a discovery or technology 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.