Sudoscan in the evaluation and follow-up of patients and carriers with TTR mutations: experience from an Italian Centre. (2nd October 2018)

• Record Type: Journal Article
• Authors: Luigetti, Marco; Bisogni, Giulia; Romano, Angela; Di Paolantonio, Andrea; Barbato, Francesco; Primicerio, Giulia; Rossini, Paolo Maria; Servidei, Serenella; Sabatelli, Mario
• Is Part Of: Amyloid. Volume 25:Number 4(2018)
• Page Start: 242
• Page End: 246
• Publication Date: 2018-10-02
• Subjects: TTR -- amyloid -- small fibre -- patient -- carrier -- neuropathy -- Sudoscan; Amyloidosis -- Periodicals; 616.3995
• DOI: 10.1080/13506129.2018.1545640
• Languages: English
• ISSNs: 1350-6129

Abstract

Abstract: Objective: To evaluate the utility of Sudoscan as possible marker of disease progression and disease onset in a cohort of hereditary ATTR amyloidosis (hATTR amyloidosis) polyneuropathy patients and carriers. Patients and methods: We regularly performed different clinical scales, nerve conductions studies (NCS), and Sudoscan on a cohort of hATTR amyloidosis patients and carriers from a single centre of central Italy, a non-endemic area, in the last 2 years. Results : About 18 hATTR amyloidosis patients and 8 asymptomatic carriers were enrolled. All patients had a neuropathy affecting large fibres, small fibres or both. Two subjects developed symptoms and neurophysiological alterations during follow-up. Sudoscan data from hand and feet inversely correlated with neuropathy severity and with disease duration. Moreover, global disease status, expressed by Kumamoto scale also inversely correlated with Sudoscan values. Conclusions: We confirmed that Sudoscan is a reliable marker of disease progression in late-onset hATTR amyloidosis patients and we suggest its possible utility in early detection of disease in this population.