Muscle MRI characteristic pattern for late-onset TK2 deficiency diagnosis

Background and objective TK2 deficiency (TK2d) is a rare mitochondrial disorder that manifests predominantly as a progressive myopathy with a broad spectrum of severity and age of onset. The rate of progression is variable, and the prognosis is poor due to early and severe respiratory involvement. E...

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Autores: Dominguez-Gonzalez, C, Fernandez-Torron, R, Moore, U, de la Hoz, CPDF, Velez-Gomez, B, Cabezas, JA, Alonso-Perez, J, Gonzalez-Mera, L, Olive, M, Garcia-Garcia, J, Moris, G, Hernandez, JCL, Muelas, N, Servian-Morilla, E, Martin, MA, Diaz-Manera, J, Paradas, C
Tipo de recurso: artículo
Estado:Versión publicada
Fecha de publicación:2022
País:España
Institución:Institut d’Investigació Biomèdica Sant Pau (IIB Sant Pau)
Repositorio:r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
OAI Identifier:oai:iibsantpau.fundanetsuite.com:p8099
Acceso en línea:https://iibsantpau.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=8099
https://ddd.uab.cat/record/280854
Access Level:acceso abierto
Palabra clave:TK2
Mitochondrial myopathy
MRI
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spelling Muscle MRI characteristic pattern for late-onset TK2 deficiency diagnosisDominguez-Gonzalez, CFernandez-Torron, RMoore, Ude la Hoz, CPDFVelez-Gomez, BCabezas, JAAlonso-Perez, JGonzalez-Mera, LOlive, MGarcia-Garcia, JMoris, GHernandez, JCLMuelas, NServian-Morilla, EMartin, MADiaz-Manera, JParadas, CTK2Mitochondrial myopathyMRIBackground and objective TK2 deficiency (TK2d) is a rare mitochondrial disorder that manifests predominantly as a progressive myopathy with a broad spectrum of severity and age of onset. The rate of progression is variable, and the prognosis is poor due to early and severe respiratory involvement. Early and accurate diagnosis is particularly important since a specific treatment is under development. This study aims to evaluate the diagnostic value of lower limb muscle MRI in adult patients with TK2d. Methods We studied a cohort of 45 genetically confirmed patients with mitochondrial myopathy (16 with mutations in TK2, 9 with mutations in other nuclear genes involved in mitochondrial DNA [mtDNA] synthesis or maintenance, 10 with single mtDNA deletions, and 10 with point mtDNA mutations) to analyze the imaging pattern of fat replacement in lower limb muscles. We compared the identified pattern in patients with TK2d with the MRI pattern of other non-mitochondrial genetic myopathies that share similar clinical characteristics. Results We found a consistent lower limb muscle MRI pattern in patients with TK2d characterized by involvement of the gluteus maximus, gastrocnemius medialis, and sartorius muscles. The identified pattern in TK2 patients differs from the known radiological involvement of other resembling muscle dystrophies that share clinical features. Conclusions By analyzing the largest cohort of muscle MRI from patients with mitochondrial myopathies studied to date, we identified a characteristic and specific radiological pattern of muscle involvement in patients with TK2d that could be useful to speed up its diagnosis.SPRINGER HEIDELBERG2022info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttps://iibsantpau.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=8099https://ddd.uab.cat/record/280854JOURNAL OF NEUROLOGYISSN: 03405354ISSNe: 14321459reponame:r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pauinstname:Institut d’Investigació Biomèdica Sant Pau (IIB Sant Pau)Inglésinfo:eu-repo/semantics/openAccessoai:iibsantpau.fundanetsuite.com:p80992026-06-14T12:41:47Z
dc.title.none.fl_str_mv Muscle MRI characteristic pattern for late-onset TK2 deficiency diagnosis
title Muscle MRI characteristic pattern for late-onset TK2 deficiency diagnosis
spellingShingle Muscle MRI characteristic pattern for late-onset TK2 deficiency diagnosis
Dominguez-Gonzalez, C
TK2
Mitochondrial myopathy
MRI
title_short Muscle MRI characteristic pattern for late-onset TK2 deficiency diagnosis
title_full Muscle MRI characteristic pattern for late-onset TK2 deficiency diagnosis
title_fullStr Muscle MRI characteristic pattern for late-onset TK2 deficiency diagnosis
title_full_unstemmed Muscle MRI characteristic pattern for late-onset TK2 deficiency diagnosis
title_sort Muscle MRI characteristic pattern for late-onset TK2 deficiency diagnosis
dc.creator.none.fl_str_mv Dominguez-Gonzalez, C
Fernandez-Torron, R
Moore, U
de la Hoz, CPDF
Velez-Gomez, B
Cabezas, JA
Alonso-Perez, J
Gonzalez-Mera, L
Olive, M
Garcia-Garcia, J
Moris, G
Hernandez, JCL
Muelas, N
Servian-Morilla, E
Martin, MA
Diaz-Manera, J
Paradas, C
author Dominguez-Gonzalez, C
author_facet Dominguez-Gonzalez, C
Fernandez-Torron, R
Moore, U
de la Hoz, CPDF
Velez-Gomez, B
Cabezas, JA
Alonso-Perez, J
Gonzalez-Mera, L
Olive, M
Garcia-Garcia, J
Moris, G
Hernandez, JCL
Muelas, N
Servian-Morilla, E
Martin, MA
Diaz-Manera, J
Paradas, C
author_role author
author2 Fernandez-Torron, R
Moore, U
de la Hoz, CPDF
Velez-Gomez, B
Cabezas, JA
Alonso-Perez, J
Gonzalez-Mera, L
Olive, M
Garcia-Garcia, J
Moris, G
Hernandez, JCL
Muelas, N
Servian-Morilla, E
Martin, MA
Diaz-Manera, J
Paradas, C
author2_role author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
dc.subject.none.fl_str_mv TK2
Mitochondrial myopathy
MRI
topic TK2
Mitochondrial myopathy
MRI
description Background and objective TK2 deficiency (TK2d) is a rare mitochondrial disorder that manifests predominantly as a progressive myopathy with a broad spectrum of severity and age of onset. The rate of progression is variable, and the prognosis is poor due to early and severe respiratory involvement. Early and accurate diagnosis is particularly important since a specific treatment is under development. This study aims to evaluate the diagnostic value of lower limb muscle MRI in adult patients with TK2d. Methods We studied a cohort of 45 genetically confirmed patients with mitochondrial myopathy (16 with mutations in TK2, 9 with mutations in other nuclear genes involved in mitochondrial DNA [mtDNA] synthesis or maintenance, 10 with single mtDNA deletions, and 10 with point mtDNA mutations) to analyze the imaging pattern of fat replacement in lower limb muscles. We compared the identified pattern in patients with TK2d with the MRI pattern of other non-mitochondrial genetic myopathies that share similar clinical characteristics. Results We found a consistent lower limb muscle MRI pattern in patients with TK2d characterized by involvement of the gluteus maximus, gastrocnemius medialis, and sartorius muscles. The identified pattern in TK2 patients differs from the known radiological involvement of other resembling muscle dystrophies that share clinical features. Conclusions By analyzing the largest cohort of muscle MRI from patients with mitochondrial myopathies studied to date, we identified a characteristic and specific radiological pattern of muscle involvement in patients with TK2d that could be useful to speed up its diagnosis.
publishDate 2022
dc.date.none.fl_str_mv 2022
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv https://iibsantpau.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=8099
https://ddd.uab.cat/record/280854
url https://iibsantpau.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=8099
https://ddd.uab.cat/record/280854
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.rights.none.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.publisher.none.fl_str_mv SPRINGER HEIDELBERG
publisher.none.fl_str_mv SPRINGER HEIDELBERG
dc.source.none.fl_str_mv JOURNAL OF NEUROLOGY
ISSN: 03405354
ISSNe: 14321459
reponame:r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname:Institut d’Investigació Biomèdica Sant Pau (IIB Sant Pau)
instname_str Institut d’Investigació Biomèdica Sant Pau (IIB Sant Pau)
reponame_str r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
collection r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
repository.name.fl_str_mv
repository.mail.fl_str_mv
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score 15,811543

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