Sural nerve biopsy: current role and comparison with serum neurofilament light chain levels
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Sural nerve biopsy: current role and comparison with serum neurofilament light chain levels Sara Mariotto1 · Sara Carta1 · Silvia Bozzetti1 · Cecilia Zivelonghi1 · Daniela Alberti1 · Serena Zanzoni2 · Massimiliano Filosto3 · Simone Fusina4 · Salvatore Monaco1 · Francesca Castellani5 · Alessandro Mantovani6 · Tiziana Cavallaro1 · Chiara Briani5 · Sergio Ferrari1 Received: 12 May 2020 / Revised: 22 May 2020 / Accepted: 23 May 2020 © Springer-Verlag GmbH Germany, part of Springer Nature 2020
Abstract The diagnosis of peripheral neuropathies can be challenging with consequent difficulties in patients’ management. The aim of this study was to explore the current diagnostic role of sural nerve biopsy and to compare pathological findings with serum neurofilament light chain levels (NfL) as biomarkers of axonal damage. We collected demographic, clinical, and paraclinical data of patients referred over 1 year to the Neurology Unit, University of Verona, Italy, to perform nerve biopsy for diagnostic purposes, and we analyzed NfL levels in available paired sera using a high sensitive technique (Quanterix, Simoa). Eightytwo patients were identified (37.8% females, median age 65.5 years). Neuropathy onset was frequently insidious (68.3%) with a slowly progressive course (76.8%). Lower limbs were usually involved (81.7%), with a predominance of sensory over motor symptoms (74.4% vs 42.7%). The most common neuropathological findings were a demyelinating pattern (76.8%), clusters of regenerations (58.5%), and unmyelinated fibers involvement on ultrastructural evaluation (52.4%). A definite pathological diagnosis was achieved in 29 cases, and in 20.7% of patients, the referral clinical diagnosis was modified. Coexistent hematological conditions and hepatitis were diagnostic confounding factors (p = 0.012 and 0.034, respectively). In the analyzed paired sera (n = 37), an inverse despite not significant relationship between NfL values and fiber density was observed (Spearman’s rho − 0.312, p = 0.056). In addition, we noted increased serum NfL values of patients with active axonal degeneration. Nerve biopsy remains a useful diagnostic investigation to achieve a correct diagnosis and guide patients’ management in selected cases of peripheral neuropathy. Serum NfL is an accessible and potential valuable marker of axonal damage in these conditions. Keywords Peripheral neuropathy · Sural nerve biopsy · NfL · Neurofilament
Introduction * Sara Mariotto [email protected] 1
Neurology Unit, Department of Neuroscience, Biomedicine and Movement Sciences, University of Verona, Policlinico GB Rossi, P.le LA Scuro 10, 37134 Verona, Italy
2
Centro Piattaforme Tecnologiche, University of Verona, Verona, Italy
3
Neurology Clinic, Spedali Civili Hospital, Brescia, Italy
4
Neurology Unit, S. Bonifacio Hospital, Verona, Italy
5
Department of Neurosciences, University of Padova, Padua, Italy
6
Section of Endocrinology, Diabetes and Metabolism, University and Azienda Ospedaliera, Universitaria Integrata o
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