Sudoscan in the evaluation and follow-up of patients and carriers with TTR mutations: experience from an Italian Centre

• Published in: Amyloid Vol. 25; no. 4; pp. 242 - 246
• Main Authors: Luigetti, Marco, Bisogni, Giulia, Romano, Angela, Di Paolantonio, Andrea, Barbato, Francesco, Primicerio, Giulia, Rossini, Paolo Maria, Servidei, Serenella, Sabatelli, Mario
• Format: Journal Article
• Language: English
• Published: England Taylor & Francis 02.10.2018
• Subjects: amyloid; carrier; neuropathy; patient; small fibre; Sudoscan; TTR; small fibre; carrier; TTR; amyloid; patient; neuropathy; Sudoscan
• ISSN: 1350-6129; 1744-2818; 1744-2818
• DOI: 10.1080/13506129.2018.1545640

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.