Literature DB >> 30638075

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

Marco Luigetti1,2, Giulia Bisogni3, Angela Romano2, Andrea Di Paolantonio2, Francesco Barbato2, Giulia Primicerio2, Paolo Maria Rossini1,2, Serenella Servidei2,4, Mario Sabatelli2,3.   

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.

Entities:  

Keywords:  Sudoscan; TTR; amyloid; carrier; neuropathy; patient; small fibre

Mesh:

Substances:

Year:  2019        PMID: 30638075     DOI: 10.1080/13506129.2018.1545640

Source DB:  PubMed          Journal:  Amyloid        ISSN: 1350-6129            Impact factor:   7.141


  6 in total

1.  Rate of neuropathic progression in hereditary transthyretin amyloidosis with polyneuropathy and other peripheral neuropathies: a systematic review and meta-analysis.

Authors:  Xiaochen Lin; Aaron Yarlas; Montserrat Vera-Llonch; Nishtha Baranwal; Josh Biber; Duncan Brown; Braden Vogt; Chafic Karam
Journal:  BMC Neurol       Date:  2021-02-12       Impact factor: 2.474

2.  Muscle MRI as a Useful Biomarker in Hereditary Transthyretin Amyloidosis: A Pilot Study.

Authors:  Guido Primiano; Tommaso Verdolotti; Gabriella D'Apolito; Andrea Di Paolantonio; Valeria Guglielmino; Angela Romano; Gabriele Lucioli; Marco Luigetti; Serenella Servidei
Journal:  Genes (Basel)       Date:  2021-11-11       Impact factor: 4.096

3.  Nerve Conduction Studies of Dorsal Sural Nerve: Normative Data and Its Potential Application in ATTRv Pre-Symptomatic Subjects.

Authors:  Marco Luigetti; Valeria Guglielmino; Marina Romozzi; Angela Romano; Andrea Di Paolantonio; Giulia Bisogni; Eleonora Sabatelli; Anna Modoni; Mario Sabatelli; Serenella Servidei; Mauro Lo Monaco
Journal:  Brain Sci       Date:  2022-08-04

Review 4.  Diagnosis and Treatment of Hereditary Transthyretin Amyloidosis (hATTR) Polyneuropathy: Current Perspectives on Improving Patient Care.

Authors:  Marco Luigetti; Angela Romano; Andrea Di Paolantonio; Giulia Bisogni; Mario Sabatelli
Journal:  Ther Clin Risk Manag       Date:  2020-02-21       Impact factor: 2.423

5.  Feasibility of assessing progression of transthyretin amyloid polyneuropathy using nerve conduction studies: Findings from the Transthyretin Amyloidosis Outcomes Survey (THAOS).

Authors:  Márcia Waddington-Cruz; Yukio Ando; Leslie Amass; Jan Kiszko; Doug Chapman; Yoshiki Sekijima
Journal:  J Peripher Nerv Syst       Date:  2021-05-07       Impact factor: 3.494

6.  Instrumental Evaluation of COVID-19 Related Dysautonomia in Non-Critically-Ill Patients: An Observational, Cross-Sectional Study.

Authors:  Simone Bellavia; Irene Scala; Marco Luigetti; Valerio Brunetti; Maurizio Gabrielli; Lorenzo Zileri Dal Verme; Serenella Servidei; Paolo Calabresi; Giovanni Frisullo; Giacomo Della Marca
Journal:  J Clin Med       Date:  2021-12-14       Impact factor: 4.241

  6 in total

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