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

BACKGROUND: 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.

METHODS: RFC1-cases were screened for SFN using the Neuropathic Pain Symptom Inventory (NPSI) and Composite Autonomic Symptom Score-31 (COMPASS-31) questionnaires. Clinical data were retrospectively collected. If available, lower limb skin biopsy samples were evaluated for somatic epidermal and autonomic subepidermal structures innervation and compared to healthy controls (HC).

RESULTS: we enrolled 40 patients, median age at onset 54 years (IQR 49-61) and disease duration 10 years (IQR 6-16). Mild-to-moderate positive symptoms (median NPSI score 12.1/50, IQR 5.5-22.3) and relevant autonomic disturbances (median COMPASS-31 score 37.0/100, IQR 17.7-44.3) were frequently reported and showed scarce correlation with disease duration. A non-length-dependent impairment in nociception was evident on both clinical and paraclinical investigations. An extreme somatic denervation was observed in all patients at both proximal (fibers/mm RFC1-cases 0.0 vs HC 20.5, p < .0001) and distal sites (fibers/mm RFC1-cases 0.0 vs HC 13.1, p < .0001), instead only a slight decrease was observed in cholinergic and adrenergic innervation of autonomic structures.

CONCLUSIONS: 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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