Publications

Authors:

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

Title:

Clinical and pathology characterization of small nerve fiber neuro(no)pathy in cerebellar ataxia with neuropathy and vestibular areflexia syndrome

Year:

2023

Type of item:

Articolo in Rivista

Tipologia ANVUR:

Articolo su rivista

Language:

Inglese

Format:

A Stampa

Referee:

Sì

Name of journal:

European Journal Of Neurology

ISSN of journal:

1351-5101

N° Volume:

30

Number or Folder:

12

Page numbers:

3834-3841

Keyword:

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

Short description of contents:

Background and purpose; Biallelic mutation/expansion of the gene RFC1 has been described in association with a spectrum of manifestations ranging from isolated 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 and Composite Autonomic Symptom Score 31 questionnaires. Clinical data were retrospectively collected. If available, lower limb skin biopsy samples were evaluated for somatic epidermal and autonomic subepidermal structure innervation and compared to healthy controls (HCs).Results: Forty patients, median age at onset 54 years (interquartile range [IQR] 49-61) and disease duration 10 years (IQR 6-16), were enrolled. Mild-to-moderate positive symptoms (median Neuropathic Pain Symptom Inventory score 12.1/50, IQR 5.5-22.3) and relevant autonomic disturbances (median Composite Autonomic Symptom Score 31 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 in both clinical and paraclinical investigations. An extreme somatic denervation was observed in all patients at both proximal (fibers/mm, RFC1 cases 0.0 vs. HCs 20.5, p < 0.0001) and distal sites (fibers/mm, RFC1 cases 0.0 vs. HCs 13.1, p < 0.0001); 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.

Web page:

https://onlinelibrary.wiley.com/doi/abs/10.1111/ene.16018

Product ID:

136264

Handle IRIS:

11562/1114507

Last Modified:

November 26, 2023

Bibliographic citation:

Tagliapietra, Matteo; Incensi, Alex; Ferrarini, Moreno; Mesiano, Nazarena; Furia, Alessandro; Rizzo, Giovanni; Liguori, Rocco; Cavallaro, Tiziana; Monaco, Salvatore; Fabrizi, Gian Maria; Donadio, Vincenzo, Clinical and pathology characterization of small nerve fiber neuro(no)pathy in cerebellar ataxia with neuropathy and vestibular areflexia syndrome «European Journal Of Neurology» , vol. 30 , n. 12 , 2023 , pp. 3834-3841

Consulta la scheda completa presente nel repository istituzionale della Ricerca di Ateneo