Muscle magnetic resonance imaging of a large cohort of distal hereditary motor neuropathies reveals characteristic features useful for diagnosis

Distal motor neuropathies (dHMN) are an heterogenous group of diseases characterized by progressive muscle weakness affecting predominantly the distal muscles of the lower and upper limbs. Our aim was to study the imaging features and pattern of muscle involvement in muscle magnetic resonance imagin...

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Autores: Esteller Gauxax, Diana|||0000-0003-0975-3052, Morrow, Jasper, Alonso Pérez, Jorge|||0000-0001-8866-5186, Reyes-Leiva, David|||0000-0001-6983-7130, Carbayo Viejo, Álvaro|||0000-0001-9282-8603, Bisogni, Giulia|||0000-0001-7314-3393, Cateruccia, Michela, Monforte, Mauro|||0000-0002-4327-6969, Tasca, Giorgio|||0000-0003-0849-9144, Alangary, Aljwhara, Marini-Bettolo, Chiara|||0000-0003-3795-6017, Sabatelli, Mario|||0000-0001-6635-4985, Laura, Matilde, Ramdharry, Gita, Bolano-Diaz, C., Turon-Sans, Janina|||0000-0002-8842-4646, Töpf, Ana, Guglieri, Michela|||0000-0002-8455-0637, Rossor, Alexander, Olivé i Plana, Montserrat|||0000-0001-5727-0165, Bertini, Enrico, Straub, Volker|||0000-0001-9046-3540, Reilly, Mary M., Rojas-Garcia, Ricard|||0000-0003-1411-5573, Diaz-Manera, Jordi|||0000-0003-2941-7988
Tipo de recurso: artículo
Fecha de publicación:2023
País:España
Institución:Universitat Autònoma de Barcelona
Repositorio:Dipòsit Digital de Documents de la UAB
Idioma:inglés
OAI Identifier:oai:ddd.uab.cat:296596
Acceso en línea:https://ddd.uab.cat/record/296596
https://dx.doi.org/urn:doi:10.1016/j.nmd.2023.08.010
Access Level:acceso abierto
Palabra clave:BICD2
Charcot
Distal hereditary motor neuropathies
Fat islands
Muscle MRI
Spinal muscle atrophy
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spelling Muscle magnetic resonance imaging of a large cohort of distal hereditary motor neuropathies reveals characteristic features useful for diagnosisEsteller Gauxax, Diana|||0000-0003-0975-3052Morrow, JasperAlonso Pérez, Jorge|||0000-0001-8866-5186Reyes-Leiva, David|||0000-0001-6983-7130Carbayo Viejo, Álvaro|||0000-0001-9282-8603Bisogni, Giulia|||0000-0001-7314-3393Cateruccia, MichelaMonforte, Mauro|||0000-0002-4327-6969Tasca, Giorgio|||0000-0003-0849-9144Alangary, AljwharaMarini-Bettolo, Chiara|||0000-0003-3795-6017Sabatelli, Mario|||0000-0001-6635-4985Laura, MatildeRamdharry, GitaBolano-Diaz, C.Turon-Sans, Janina|||0000-0002-8842-4646Töpf, AnaGuglieri, Michela|||0000-0002-8455-0637Rossor, AlexanderOlivé i Plana, Montserrat|||0000-0001-5727-0165Bertini, EnricoStraub, Volker|||0000-0001-9046-3540Reilly, Mary M.Rojas-Garcia, Ricard|||0000-0003-1411-5573Diaz-Manera, Jordi|||0000-0003-2941-7988BICD2CharcotDistal hereditary motor neuropathiesFat islandsMuscle MRISpinal muscle atrophyDistal motor neuropathies (dHMN) are an heterogenous group of diseases characterized by progressive muscle weakness affecting predominantly the distal muscles of the lower and upper limbs. Our aim was to study the imaging features and pattern of muscle involvement in muscle magnetic resonance imaging (MRI) in dHMN patients of suspected genetic origin (dHMN). We conducted a retrospective study collecting clinical, genetic and muscle imaging data. Muscle MRI included T1-weighted and T2 weighted Short Tau Inversion Recovery images (STIR-T2w) sequences. Muscle replacement by fat was quantified using the Mercuri score. Identification of selective patterns of involvement was performed using hierarchical clustering. Eighty-four patients with diagnosis of dHMN were studied. Fat replacement was predominant in the distal lower leg muscles (82/84 cases), although also affected thigh and pelvis muscles. Asymmetric involvement was present in 29% of patients. The superficial posterior compartment of the leg, including the soleus and gastrocnemius muscles, was the most affected area (77/84). We observed a reticular pattern of fatty replacement progressing towards what is commonly known as "muscle islands" in 79.8%. Hyperintensities in STIR-T2w were observed in 78.6% patients mainly in distal leg muscles. Besides features common to all individuals, we identified and describe a pattern of muscle fat replacement characteristic of BICD2, HSPB1 and DYNC1H1 patients. We conclude that muscle MRI of patients with suspected dHMN reveals common features helpful in diagnosis process.Universitat Autònoma de Barcelona 22023-01-0120232023-01-01Articlehttp://purl.org/coar/resource_type/c_6501VoRhttp://purl.org/coar/version/c_970fb48d4fbd8a85info:eu-repo/semantics/articleapplication/pdfhttps://ddd.uab.cat/record/296596https://dx.doi.org/urn:doi:10.1016/j.nmd.2023.08.010reponame:Dipòsit Digital de Documents de la UABinstname:Universitat Autònoma de BarcelonaInglésengInstituto de Salud Carlos III https://doi.org/10.13039/501100004587 PI19/01543open accesshttp://purl.org/coar/access_right/c_abf2Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, fins i tot amb finalitats comercials, sempre i quan es reconegui l'autoria de l'obra original.https://creativecommons.org/licenses/by/4.0/info:eu-repo/semantics/openAccessoai:ddd.uab.cat:2965962026-06-06T12:50:31Z
dc.title.none.fl_str_mv Muscle magnetic resonance imaging of a large cohort of distal hereditary motor neuropathies reveals characteristic features useful for diagnosis
title Muscle magnetic resonance imaging of a large cohort of distal hereditary motor neuropathies reveals characteristic features useful for diagnosis
spellingShingle Muscle magnetic resonance imaging of a large cohort of distal hereditary motor neuropathies reveals characteristic features useful for diagnosis
Esteller Gauxax, Diana|||0000-0003-0975-3052
BICD2
Charcot
Distal hereditary motor neuropathies
Fat islands
Muscle MRI
Spinal muscle atrophy
title_short Muscle magnetic resonance imaging of a large cohort of distal hereditary motor neuropathies reveals characteristic features useful for diagnosis
title_full Muscle magnetic resonance imaging of a large cohort of distal hereditary motor neuropathies reveals characteristic features useful for diagnosis
title_fullStr Muscle magnetic resonance imaging of a large cohort of distal hereditary motor neuropathies reveals characteristic features useful for diagnosis
title_full_unstemmed Muscle magnetic resonance imaging of a large cohort of distal hereditary motor neuropathies reveals characteristic features useful for diagnosis
title_sort Muscle magnetic resonance imaging of a large cohort of distal hereditary motor neuropathies reveals characteristic features useful for diagnosis
dc.creator.none.fl_str_mv Esteller Gauxax, Diana|||0000-0003-0975-3052
Morrow, Jasper
Alonso Pérez, Jorge|||0000-0001-8866-5186
Reyes-Leiva, David|||0000-0001-6983-7130
Carbayo Viejo, Álvaro|||0000-0001-9282-8603
Bisogni, Giulia|||0000-0001-7314-3393
Cateruccia, Michela
Monforte, Mauro|||0000-0002-4327-6969
Tasca, Giorgio|||0000-0003-0849-9144
Alangary, Aljwhara
Marini-Bettolo, Chiara|||0000-0003-3795-6017
Sabatelli, Mario|||0000-0001-6635-4985
Laura, Matilde
Ramdharry, Gita
Bolano-Diaz, C.
Turon-Sans, Janina|||0000-0002-8842-4646
Töpf, Ana
Guglieri, Michela|||0000-0002-8455-0637
Rossor, Alexander
Olivé i Plana, Montserrat|||0000-0001-5727-0165
Bertini, Enrico
Straub, Volker|||0000-0001-9046-3540
Reilly, Mary M.
Rojas-Garcia, Ricard|||0000-0003-1411-5573
Diaz-Manera, Jordi|||0000-0003-2941-7988
author Esteller Gauxax, Diana|||0000-0003-0975-3052
author_facet Esteller Gauxax, Diana|||0000-0003-0975-3052
Morrow, Jasper
Alonso Pérez, Jorge|||0000-0001-8866-5186
Reyes-Leiva, David|||0000-0001-6983-7130
Carbayo Viejo, Álvaro|||0000-0001-9282-8603
Bisogni, Giulia|||0000-0001-7314-3393
Cateruccia, Michela
Monforte, Mauro|||0000-0002-4327-6969
Tasca, Giorgio|||0000-0003-0849-9144
Alangary, Aljwhara
Marini-Bettolo, Chiara|||0000-0003-3795-6017
Sabatelli, Mario|||0000-0001-6635-4985
Laura, Matilde
Ramdharry, Gita
Bolano-Diaz, C.
Turon-Sans, Janina|||0000-0002-8842-4646
Töpf, Ana
Guglieri, Michela|||0000-0002-8455-0637
Rossor, Alexander
Olivé i Plana, Montserrat|||0000-0001-5727-0165
Bertini, Enrico
Straub, Volker|||0000-0001-9046-3540
Reilly, Mary M.
Rojas-Garcia, Ricard|||0000-0003-1411-5573
Diaz-Manera, Jordi|||0000-0003-2941-7988
author_role author
author2 Morrow, Jasper
Alonso Pérez, Jorge|||0000-0001-8866-5186
Reyes-Leiva, David|||0000-0001-6983-7130
Carbayo Viejo, Álvaro|||0000-0001-9282-8603
Bisogni, Giulia|||0000-0001-7314-3393
Cateruccia, Michela
Monforte, Mauro|||0000-0002-4327-6969
Tasca, Giorgio|||0000-0003-0849-9144
Alangary, Aljwhara
Marini-Bettolo, Chiara|||0000-0003-3795-6017
Sabatelli, Mario|||0000-0001-6635-4985
Laura, Matilde
Ramdharry, Gita
Bolano-Diaz, C.
Turon-Sans, Janina|||0000-0002-8842-4646
Töpf, Ana
Guglieri, Michela|||0000-0002-8455-0637
Rossor, Alexander
Olivé i Plana, Montserrat|||0000-0001-5727-0165
Bertini, Enrico
Straub, Volker|||0000-0001-9046-3540
Reilly, Mary M.
Rojas-Garcia, Ricard|||0000-0003-1411-5573
Diaz-Manera, Jordi|||0000-0003-2941-7988
author2_role author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
dc.contributor.none.fl_str_mv Universitat Autònoma de Barcelona
dc.subject.none.fl_str_mv BICD2
Charcot
Distal hereditary motor neuropathies
Fat islands
Muscle MRI
Spinal muscle atrophy
topic BICD2
Charcot
Distal hereditary motor neuropathies
Fat islands
Muscle MRI
Spinal muscle atrophy
description Distal motor neuropathies (dHMN) are an heterogenous group of diseases characterized by progressive muscle weakness affecting predominantly the distal muscles of the lower and upper limbs. Our aim was to study the imaging features and pattern of muscle involvement in muscle magnetic resonance imaging (MRI) in dHMN patients of suspected genetic origin (dHMN). We conducted a retrospective study collecting clinical, genetic and muscle imaging data. Muscle MRI included T1-weighted and T2 weighted Short Tau Inversion Recovery images (STIR-T2w) sequences. Muscle replacement by fat was quantified using the Mercuri score. Identification of selective patterns of involvement was performed using hierarchical clustering. Eighty-four patients with diagnosis of dHMN were studied. Fat replacement was predominant in the distal lower leg muscles (82/84 cases), although also affected thigh and pelvis muscles. Asymmetric involvement was present in 29% of patients. The superficial posterior compartment of the leg, including the soleus and gastrocnemius muscles, was the most affected area (77/84). We observed a reticular pattern of fatty replacement progressing towards what is commonly known as "muscle islands" in 79.8%. Hyperintensities in STIR-T2w were observed in 78.6% patients mainly in distal leg muscles. Besides features common to all individuals, we identified and describe a pattern of muscle fat replacement characteristic of BICD2, HSPB1 and DYNC1H1 patients. We conclude that muscle MRI of patients with suspected dHMN reveals common features helpful in diagnosis process.
publishDate 2023
dc.date.none.fl_str_mv 2
2023-01-01
2023
2023-01-01
dc.type.none.fl_str_mv Article
http://purl.org/coar/resource_type/c_6501
VoR
http://purl.org/coar/version/c_970fb48d4fbd8a85
dc.type.openaire.fl_str_mv info:eu-repo/semantics/article
format article
dc.identifier.none.fl_str_mv https://ddd.uab.cat/record/296596
https://dx.doi.org/urn:doi:10.1016/j.nmd.2023.08.010
url https://ddd.uab.cat/record/296596
https://dx.doi.org/urn:doi:10.1016/j.nmd.2023.08.010
dc.language.none.fl_str_mv Inglés
eng
language_invalid_str_mv Inglés
language eng
dc.relation.none.fl_str_mv Instituto de Salud Carlos III https://doi.org/10.13039/501100004587 PI19/01543
dc.rights.none.fl_str_mv open access
http://purl.org/coar/access_right/c_abf2
https://creativecommons.org/licenses/by/4.0/
dc.rights.openaire.fl_str_mv info:eu-repo/semantics/openAccess
rights_invalid_str_mv open access
http://purl.org/coar/access_right/c_abf2
https://creativecommons.org/licenses/by/4.0/
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.source.none.fl_str_mv reponame:Dipòsit Digital de Documents de la UAB
instname:Universitat Autònoma de Barcelona
instname_str Universitat Autònoma de Barcelona
reponame_str Dipòsit Digital de Documents de la UAB
collection Dipòsit Digital de Documents de la UAB
repository.name.fl_str_mv
repository.mail.fl_str_mv
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