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

Hereditary transthyretin amyloidosis (ATTRv, v for variant) is a severe and heterogeneous multisystem condition with a prevalent peripheral nervous system impairment, due to mutations in the transthyretin gene. Considering the introduction of different disease-modifying therapies in the last few yea...

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Autores principales:	Guido Primiano, Tommaso Verdolotti, Gabriella D’Apolito, Andrea Di Paolantonio, Valeria Guglielmino, Angela Romano, Gabriele Lucioli, Marco Luigetti, Serenella Servidei
Formato:	article
Lenguaje:	EN
Publicado:	MDPI AG 2021
Materias:	<i>TTR</i> amyloid muscle MR biomarker progression Genetics QH426-470
Acceso en línea:	https://doaj.org/article/fa2ce89902a349359808f6cb10ec11d0
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spelling	oai:doaj.org-article:fa2ce89902a349359808f6cb10ec11d02021-11-25T17:41:57ZMuscle MRI as a Useful Biomarker in Hereditary Transthyretin Amyloidosis: A Pilot Study10.3390/genes121117862073-4425https://doaj.org/article/fa2ce89902a349359808f6cb10ec11d02021-11-01T00:00:00Zhttps://www.mdpi.com/2073-4425/12/11/1786https://doaj.org/toc/2073-4425Hereditary transthyretin amyloidosis (ATTRv, v for variant) is a severe and heterogeneous multisystem condition with a prevalent peripheral nervous system impairment, due to mutations in the transthyretin gene. Considering the introduction of different disease-modifying therapies in the last few years, a need of reliable biomarkers is emerging. In this study, we evaluated muscle MRI in a cohort of ATTRv patients in order to establish if the severity of muscle involvement correlated with disease severity. Linear regression analysis showed a significant positive correlation between the total fatty infiltration score and NIS, NIS-LL, and Norfolk, and an inverse correlation with Sudoscan registered from feet. In conclusion, we demonstrated the role of muscle MRI in ATTRv as possible disease biomarker, both for diagnostic purposes and for assessing the severity of the disease.Guido PrimianoTommaso VerdolottiGabriella D’ApolitoAndrea Di PaolantonioValeria GuglielminoAngela RomanoGabriele LucioliMarco LuigettiSerenella ServideiMDPI AGarticle<i>TTR</i>amyloidmuscle MRbiomarkerprogressionGeneticsQH426-470ENGenes, Vol 12, Iss 1786, p 1786 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	<i>TTR</i> amyloid muscle MR biomarker progression Genetics QH426-470
spellingShingle	<i>TTR</i> amyloid muscle MR biomarker progression Genetics QH426-470 Guido Primiano Tommaso Verdolotti Gabriella D’Apolito Andrea Di Paolantonio Valeria Guglielmino Angela Romano Gabriele Lucioli Marco Luigetti Serenella Servidei Muscle MRI as a Useful Biomarker in Hereditary Transthyretin Amyloidosis: A Pilot Study
description	Hereditary transthyretin amyloidosis (ATTRv, v for variant) is a severe and heterogeneous multisystem condition with a prevalent peripheral nervous system impairment, due to mutations in the transthyretin gene. Considering the introduction of different disease-modifying therapies in the last few years, a need of reliable biomarkers is emerging. In this study, we evaluated muscle MRI in a cohort of ATTRv patients in order to establish if the severity of muscle involvement correlated with disease severity. Linear regression analysis showed a significant positive correlation between the total fatty infiltration score and NIS, NIS-LL, and Norfolk, and an inverse correlation with Sudoscan registered from feet. In conclusion, we demonstrated the role of muscle MRI in ATTRv as possible disease biomarker, both for diagnostic purposes and for assessing the severity of the disease.
format	article
author	Guido Primiano Tommaso Verdolotti Gabriella D’Apolito Andrea Di Paolantonio Valeria Guglielmino Angela Romano Gabriele Lucioli Marco Luigetti Serenella Servidei
author_facet	Guido Primiano Tommaso Verdolotti Gabriella D’Apolito Andrea Di Paolantonio Valeria Guglielmino Angela Romano Gabriele Lucioli Marco Luigetti Serenella Servidei
author_sort	Guido Primiano
title	Muscle MRI as a Useful Biomarker in Hereditary Transthyretin Amyloidosis: A Pilot Study
title_short	Muscle MRI as a Useful Biomarker in Hereditary Transthyretin Amyloidosis: A Pilot Study
title_full	Muscle MRI as a Useful Biomarker in Hereditary Transthyretin Amyloidosis: A Pilot Study
title_fullStr	Muscle MRI as a Useful Biomarker in Hereditary Transthyretin Amyloidosis: A Pilot Study
title_full_unstemmed	Muscle MRI as a Useful Biomarker in Hereditary Transthyretin Amyloidosis: A Pilot Study
title_sort	muscle mri as a useful biomarker in hereditary transthyretin amyloidosis: a pilot study
publisher	MDPI AG
publishDate	2021
url	https://doaj.org/article/fa2ce89902a349359808f6cb10ec11d0
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Muscle MRI as a Useful Biomarker in Hereditary Transthyretin Amyloidosis: A Pilot Study

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