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Nerve ultrasound in hereditary transthyretin amyloidosis: red flags and possible progression biomarkers
BACKGROUND: Diagnostic delay of hereditary transthyretin amyloidosis (ATTRv, v for variant) prevents timely treatment and, therefore, concurs to the mortality of the disease. The aim of the present study was to explore with nerve ultrasound (US) possible red flags for early diagnosis in ATTRv patien...
Autores principales: | , , , , , , , , , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Springer Berlin Heidelberg
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7815618/ https://www.ncbi.nlm.nih.gov/pubmed/32749600 http://dx.doi.org/10.1007/s00415-020-10127-8 |
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author | Salvalaggio, Alessandro Coraci, Daniele Cacciavillani, Mario Obici, Laura Mazzeo, Anna Luigetti, Marco Pastorelli, Francesca Grandis, Marina Cavallaro, Tiziana Bisogni, Giulia Lozza, Alessandro Gemelli, Chiara Gentile, Luca Ermani, Mario Fabrizi, Gian Maria Plasmati, Rosaria Campagnolo, Marta Castellani, Francesca Gasparotti, Roberto Martinoli, Carlo Padua, Luca Briani, Chiara |
author_facet | Salvalaggio, Alessandro Coraci, Daniele Cacciavillani, Mario Obici, Laura Mazzeo, Anna Luigetti, Marco Pastorelli, Francesca Grandis, Marina Cavallaro, Tiziana Bisogni, Giulia Lozza, Alessandro Gemelli, Chiara Gentile, Luca Ermani, Mario Fabrizi, Gian Maria Plasmati, Rosaria Campagnolo, Marta Castellani, Francesca Gasparotti, Roberto Martinoli, Carlo Padua, Luca Briani, Chiara |
author_sort | Salvalaggio, Alessandro |
collection | PubMed |
description | BACKGROUND: Diagnostic delay of hereditary transthyretin amyloidosis (ATTRv, v for variant) prevents timely treatment and, therefore, concurs to the mortality of the disease. The aim of the present study was to explore with nerve ultrasound (US) possible red flags for early diagnosis in ATTRv patients with carpal tunnel syndrome (CTS) and/or polyneuropathy and in pre-symptomatic carriers. METHODS: Patients and pre-symptomatic carriers with a TTR gene mutation were enrolled from seven Italian centers. Severity of CTS was assessed with neurophysiology and clinical evaluation. Median nerve cross-section area (CSA) was measured with US in ATTRv carriers with CTS (TTR-CTS). One thousand one hundred ninety-six idiopathic CTS were used as controls. Nerve US was also performed in several nerve trunks (median, ulnar, radial, brachial plexi, tibial, peroneal, sciatic, sural) in ATTRv patients with polyneuropathy and in pre-symptomatic carriers. RESULTS: Sixty-two subjects (34 men, 28 women, mean age 59.8 years ± 12) with TTR gene mutation were recruited. With regard to CTS, while in idiopathic CTS there was a direct correlation between CTS severity and median nerve CSA (r = 0.55, p < 0.01), in the subgroup of TTR-CTS subjects (16 subjects, 5 with bilateral CTS) CSA did not significantly correlate with CTS severity (r = − 0.473). ATTRv patients with polyneuropathy showed larger CSA than pre-symptomatic carriers in several nerve sites, more pronounced at brachial plexi (p < 0.001). CONCLUSIONS: The present study identifies nerve morphological US patterns that may help in the early diagnosis (morpho-functional dissociation of median nerve in CTS) and monitoring of pre-symptomatic TTR carriers (larger nerve CSA at proximal nerve sites, especially at brachial plexi). |
format | Online Article Text |
id | pubmed-7815618 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | Springer Berlin Heidelberg |
record_format | MEDLINE/PubMed |
spelling | pubmed-78156182021-01-25 Nerve ultrasound in hereditary transthyretin amyloidosis: red flags and possible progression biomarkers Salvalaggio, Alessandro Coraci, Daniele Cacciavillani, Mario Obici, Laura Mazzeo, Anna Luigetti, Marco Pastorelli, Francesca Grandis, Marina Cavallaro, Tiziana Bisogni, Giulia Lozza, Alessandro Gemelli, Chiara Gentile, Luca Ermani, Mario Fabrizi, Gian Maria Plasmati, Rosaria Campagnolo, Marta Castellani, Francesca Gasparotti, Roberto Martinoli, Carlo Padua, Luca Briani, Chiara J Neurol Original Communication BACKGROUND: Diagnostic delay of hereditary transthyretin amyloidosis (ATTRv, v for variant) prevents timely treatment and, therefore, concurs to the mortality of the disease. The aim of the present study was to explore with nerve ultrasound (US) possible red flags for early diagnosis in ATTRv patients with carpal tunnel syndrome (CTS) and/or polyneuropathy and in pre-symptomatic carriers. METHODS: Patients and pre-symptomatic carriers with a TTR gene mutation were enrolled from seven Italian centers. Severity of CTS was assessed with neurophysiology and clinical evaluation. Median nerve cross-section area (CSA) was measured with US in ATTRv carriers with CTS (TTR-CTS). One thousand one hundred ninety-six idiopathic CTS were used as controls. Nerve US was also performed in several nerve trunks (median, ulnar, radial, brachial plexi, tibial, peroneal, sciatic, sural) in ATTRv patients with polyneuropathy and in pre-symptomatic carriers. RESULTS: Sixty-two subjects (34 men, 28 women, mean age 59.8 years ± 12) with TTR gene mutation were recruited. With regard to CTS, while in idiopathic CTS there was a direct correlation between CTS severity and median nerve CSA (r = 0.55, p < 0.01), in the subgroup of TTR-CTS subjects (16 subjects, 5 with bilateral CTS) CSA did not significantly correlate with CTS severity (r = − 0.473). ATTRv patients with polyneuropathy showed larger CSA than pre-symptomatic carriers in several nerve sites, more pronounced at brachial plexi (p < 0.001). CONCLUSIONS: The present study identifies nerve morphological US patterns that may help in the early diagnosis (morpho-functional dissociation of median nerve in CTS) and monitoring of pre-symptomatic TTR carriers (larger nerve CSA at proximal nerve sites, especially at brachial plexi). Springer Berlin Heidelberg 2020-08-04 2021 /pmc/articles/PMC7815618/ /pubmed/32749600 http://dx.doi.org/10.1007/s00415-020-10127-8 Text en © The Author(s) 2020 Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/. |
spellingShingle | Original Communication Salvalaggio, Alessandro Coraci, Daniele Cacciavillani, Mario Obici, Laura Mazzeo, Anna Luigetti, Marco Pastorelli, Francesca Grandis, Marina Cavallaro, Tiziana Bisogni, Giulia Lozza, Alessandro Gemelli, Chiara Gentile, Luca Ermani, Mario Fabrizi, Gian Maria Plasmati, Rosaria Campagnolo, Marta Castellani, Francesca Gasparotti, Roberto Martinoli, Carlo Padua, Luca Briani, Chiara Nerve ultrasound in hereditary transthyretin amyloidosis: red flags and possible progression biomarkers |
title | Nerve ultrasound in hereditary transthyretin amyloidosis: red flags and possible progression biomarkers |
title_full | Nerve ultrasound in hereditary transthyretin amyloidosis: red flags and possible progression biomarkers |
title_fullStr | Nerve ultrasound in hereditary transthyretin amyloidosis: red flags and possible progression biomarkers |
title_full_unstemmed | Nerve ultrasound in hereditary transthyretin amyloidosis: red flags and possible progression biomarkers |
title_short | Nerve ultrasound in hereditary transthyretin amyloidosis: red flags and possible progression biomarkers |
title_sort | nerve ultrasound in hereditary transthyretin amyloidosis: red flags and possible progression biomarkers |
topic | Original Communication |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7815618/ https://www.ncbi.nlm.nih.gov/pubmed/32749600 http://dx.doi.org/10.1007/s00415-020-10127-8 |
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