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01-02-2022 | Neurotomy | Original Article

Skin biopsy and quantitative sensory assessment in an Italian cohort of ATTRv patients with polyneuropathy and asymptomatic carriers: possible evidence of early non-length dependent denervation

Authors: Luca Leonardi, Eleonora Galosi, Fiammetta Vanoli, Alessandra Fasolino, Giuseppe Di Pietro, Marco Luigetti, Mario Sabatelli, Laura Fionda, Matteo Garibaldi, Girolamo Alfieri, Antonio Lauletta, Stefania Morino, Marco Salvetti, Andrea Truini, Giovanni Antonini

Published in: Neurological Sciences | Issue 2/2022

Abstract

Aim

Study of intraepidermal nerve fiber density (IENFD) by skin biopsy represents a promising tool in the evaluation of patients with ATTRv polyneuropathy (ATTRv-PN). Herein, we retrospectively analyze intraepidermal innervation and quantitative sensory test (QST) data from an Italian cohort of Italian ATTRv-PN patients and asymptomatic carriers aimed to provide insights into early nerve pathological and functional changes in this disease.

Methods

IENFD and QST data of 14 ATTRv-PN patients and 14 asymptomatic carriers were retrospectively analyzed together with clinical and paraclinical data such as disease stage and severity, neuropathic pain scales, and sural SNAP amplitude.

Results

Given an estimated time to the predicted age of onset of symptomatic disease of 20.27 + / − 7.9 years, small nerve fiber loss seems to be unexpectedly early in carriers. Moreover, carriers showed skin denervation at the proximal (thigh) site, suggesting a non-length-dependent neuropathic process. IENFD at ankle correlated with disease severity and other paraclinical variables such as sural nerve potential amplitude and QST parameters. Patients at earlier stages of the disease did not show significant differences in ankle IENFD compared with asymptomatic carriers, but significant differences in terms of QST parameters, small fiber neuropathy symptoms, and neuropathic pain.

Conclusions

Skin biopsy can disclose an early non-length-dependent small fiber loss in ATTRv-PN and, together with QST, could provide a useful insight disease onset and progression.

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Title: Skin biopsy and quantitative sensory assessment in an Italian cohort of ATTRv patients with polyneuropathy and asymptomatic carriers: possible evidence of early non-length dependent denervation
Authors: Luca Leonardi
Eleonora Galosi
Fiammetta Vanoli
Alessandra Fasolino
Giuseppe Di Pietro
Marco Luigetti
Mario Sabatelli
Laura Fionda
Matteo Garibaldi
Girolamo Alfieri
Antonio Lauletta
Stefania Morino
Marco Salvetti
Andrea Truini
Giovanni Antonini
Publication date: 01-02-2022
Publisher: Springer International Publishing
Keywords: Neurotomy
Neuropathic Pain
Polyneuropathy
Small Fiber Neuropathy
Published in: Neurological Sciences / Issue 2/2022
Print ISSN: 1590-1874
Electronic ISSN: 1590-3478
DOI: https://doi.org/10.1007/s10072-021-05434-5

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Skin biopsy and quantitative sensory assessment in an Italian cohort of ATTRv patients with polyneuropathy and asymptomatic carriers: possible evidence of early non-length dependent denervation

Abstract

Aim

Methods

Results

Conclusions

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Abstract

Aim

Methods

Results

Conclusions

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