Clinical and pathology characterization of small nerve fibers neuro(no)pathy in Cerebellar Ataxia with Neuropathy and Vestibular Areflexia Syndrome.

Matteo Tagliapietra,Alex Incensi,Moreno Ferrarini,Nazarena Mesiano,Alessandro Furia,Giovanni Rizzo,Rocco Liguori,Tiziana Cavallaro,Salvatore Monaco,Gian Maria Fabrizi,Vincenzo Donadio

European journal of neurology（2023）

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摘要

RFC1-disease is characterized by a severe and widespread somatic SFN. Skin denervation may potentially represent the earliest feature and drive towards the suspicion of this disorder.

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关键词

dysautonomia, familial, humans, neuropathic pain, nociception, replication factor C, subunit 1, skin, pathology, small fiber neuropathy

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