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Papers of the Week
Clinical and pathology characterization of small nerve fibers neuro(no)pathy in Cerebellar Ataxia with Neuropathy and Vestibular Areflexia Syndrome.
Authors
Tagliapietra M, Incensi A, Ferrarini M, Mesiano N, Furia A, Rizzo G, Liguori R, Cavallaro T, Monaco S, Fabrizi GM, Donadio VAbstract
biallelic mutation/expansion of the gene RFC1 has been described in association with a spectrum of manifestation ranging from isolate sensory neuro(no)pathy to a complex presentation as Cerebellar Ataxia with Neuropathy and Vestibular Areflexia Syndrome (CANVAS). Our aim was to define the frequency and characteristics of small fiber neuropathy (SFN) in RFC1-disease at different stages.