Skin Biopsy in Evaluation of Autonomic Disorders

Christopher H. Gibbons, MD, MMSc, FAAN; Ningshan Wang, MD, PhD; Jee Young Kim, MD; Marta Campagnolo, MD; Roy Freeman, MBChB Autonomic Disorders p. 200-212 February 2020, Vol.26, No.1 doi: 10.1212/CON.0000000000000814
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PURPOSE OF REVIEW This article provides an up-to-date assessment of the role of skin biopsy in the evaluation of autonomic disorders. The standard methodology for completing a skin biopsy, the anatomic structures of interest detected within a skin biopsy, and the disease states in which skin biopsies may provide valuable information are reviewed.

RECENT FINDINGS Several recent advances in the studies of hereditary amyloidosis and the various degenerative synucleinopathies have demonstrated that simple skin biopsies can provide valuable pathologic evidence of neurologic disease. In addition to diagnosis of the underlying disorder, skin biopsies provide a quantitative structural measurement of the associated autonomic damage.

SUMMARY Skin biopsies are making great inroads into the study of autonomic and peripheral nerve disorders. Complex immunohistochemical staining protocols are challenging to complete, but the rich data derived from these studies in the diagnosis and monitoring of different disease states suggest that the role of skin biopsies in the study of the autonomic nervous system will continue to expand in the years to come.

Address correspondence to Dr Christopher Gibbons, Center for Autonomic and Peripheral Nerve Disorders, Beth Israel Deaconess Medical Center, 1 Deaconess Rd, Palmer 111, Boston, MA 02215,

RELATIONSHIP DISCLOSURE: Dr Gibbons has received personal compensation for serving as a scientific advisor for Theravance Biopharma and Lundbeck and as an associate editor for Autonomic Neuroscience: Basic & Clinical, research/grant support from Grifols, and publishing royalties from UpToDate, Inc. Dr Gibbons has held stock/stock options in Cutaneous Neurodiagnostics, LLC, and has given expert medical testimony. Dr Freeman has received personal compensation and/or stock options for serving on scientific advisory boards of Abide Therapeutics; Applied Therapeutics, Inc; Aptinyx, Inc; Astellas Pharma; Biogen; Biohaven Pharmaceuticals; Chromocell; Cutaneous Neurodiagnostics, LLC; GW Pharmaceuticals, plc; Ironwood Pharmaceuticals; Lundbeck; Mundipharma; NeuroBo Pharmaceuticals; Novartis; Pfizer, Inc; Regenacy Pharmaceuticals; Spinifex Pharmaceuticals; Theravance Biopharma; Toray Medical Co, Ltd; and Vertex Pharmaceuticals. Dr Freeman has received personal compensation for serving as editor-in-chief of Autonomic Neuroscience: Basic & Clinical. Drs Wang, Kim, and Campagnolo report no disclosures.

UNLABELED USE OF PRODUCTS/INVESTIGATIONAL USE DISCLOSURE: Drs Gibbons, Wang, Kim, Campagnolo, and Freeman report no disclosures.

© 2020 American Academy of Neurology.