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© 1999 American Academy of Neurology Articles Quantitative analysis of epidermal innervation in Fabry diseaseFrom the Department of Neurology (Dr. Scott), University of Vermont College of Medicine, Burlington, VT; the Departments of Neurology (Drs. Griffin and Crawford, and J.C. McArthur) and Neuroscience (Dr. Griffin), Johns Hopkins University School of Medicine, Baltimore, MD; and the Developmental and Metabolic Neurology Branch (Drs. Barton, Banerjee, Tournay, and Schiffmann) and NDS, Medical Neurology Branch (Dr. Luciano), National Institutes of Health, NINDS, Bethesda, MD. Address correspondence and reprint requests to Dr. L.J.C. Scott, Department of Neurology, University of Vermont College of Medicine, Given Medical Building Room B-218, Burlington, VT 05405. OBJECTIVE: To use skin biopsy specimens to quantitate the cutaneous innervation density of Fabry patients who had preserved renal function. BACKGROUND: The small fiber neuropathy of Fabry disease is difficult to detect and quantitate by conventional methods. Because this neuropathy is a common characteristic of Fabry disease, quantitating changes in this parameter would be helpful in demonstrating the effectiveness of enzyme or gene replacement therapy. METHODS: Patients underwent skin biopsy at the thigh and foot. Innervation density was determined by counting free nerve endings in the epidermis. These data were compared with nerve conduction studies, and in selected patients, fiber quantitation of sural nerve biopsy specimens. RESULTS: The Fabry patients had normal results of nerve conduction studies and large fiber quantitation by sural nerve biopsy. However, the involvement of small cutaneous fibers in these patients was easily demonstrable and quantifiable by skin biopsy. All patients showed severe loss of intraepidermal innervation at the ankle, but fiber loss at the distal thigh was proportionately less severe. CONCLUSIONS: The nerve damage in Fabry patients with preserved renal function involves exclusively small myelinated and unmyelinated fibers, and skin biopsy is a useful in detecting and quantitating such damage. Comparison of cutaneous innervation density with quantitation of sural nerve biopsy specimens demonstrated that skin biopsy specimens were as sensitive in detecting the presence of neuropathy as were the nerve specimens. It is speculated that analysis of cutaneous innervation may provide a useful marker of the nervous system’s response to specific therapy for Fabry disease. This article has been cited by other articles:
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