Academic Journal
Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP-mediated disease reveals characteristic features useful for diagnosis
| العنوان: | Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP-mediated disease reveals characteristic features useful for diagnosis |
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| المؤلفون: | Esteller, Diana, Schiava, Marianela, Villar-Quiles, Rocío Nur, Dibowski, Boris, Venturelli, Nadia, Laforet, Pascal, Alonso-Pérez, Jorge, Olive, Montse, Domínguez-González, Cristina, Paradas, Carmen, Vélez, Beatriz, Kostera-Pruszczyk, Anna, Kierdaszuk, Biruta, Rodolico, Carmelo, Claeys, Kristl G., Pál, Endre, Malfatti, Edoardo, Souvannanorath, Sarah, Alonso-Jiménez, Alicia, de Ridder, Willem, de Smet, Eline, Papadimas, George Konstantinos, Papadopoulos, Constantinos, Xirou, Sophia, Luo, Sushan, Muelas, Nuria, Vilchez, Juan J., Ramos-Fransi, Alba, Monforte, Mauro, Tasca, Giorgio, Udd, Bjarne A., Palmio, Johanna, Sri, Srtuhi, Krause, Sabine, Schöser, Benedikt Gustav Heinrich, Fernández-Torrón, Roberto, López de Munain, Adolfo L., Pegoraro, Elena, Farrugia, Maria Elena, Vorgerd, Matthias, Manousakis, Georgios E., Chanson, Jean Baptiste, Nadaj-Pakleza, Aleksandra A., Cetin, Hakan, Badrising, Umesh A., Warman-Chardon, Jodi P., Bevilacqua, Jorge Alfredo, Earle, Nicholas E., Campero, Mario S., Díaz, Jorge, Ikenaga, Chiseko, Lloyd, Thomas E., Nishino, Ichizo, Nishimori, Yukako, Saito, Yoshihiko, Oya, Yasushi, Takahashi, Yoshiaki, Nishikawa, Atsuko, Sasaki, Ryo, Marini-Bettolo, Chiara, Guglieri, Michela, Straub, V. W., Stojkovic, Tanya, Carlier, Robert Yves, Díaz-Manera, Jordi Alberto |
| المساهمون: | Institut de Myologie, Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Centre de recherche en Myologie – U974 SU-INSERM, Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Hôpital Raymond Poincaré (Garches) GHU AP-HP Université Paris-Saclay, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Handicap neuromusculaire : Physiopathologie, Biothérapie et Pharmacologies appliquées (END-ICAP), Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Institut National de la Santé et de la Recherche Médicale (INSERM), Hôpital Henri Mondor, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Henri Mondor-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Institut Mondor de Recherche Biomédicale (IMRB), Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR10-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Les Hôpitaux Universitaires de Strasbourg (HUS), French Association of Myopathies, (24341, AFM-23444), Muscular Dystrophy UK, MDUK, (MDUK-0280/0783), Medical Research Council, MRC, (MR/W019086/1), Academy of Medical Sciences, (APR4/1007) |
| المصدر: | ISSN: 0340-5354. |
| بيانات النشر: | HAL CCSD Springer Verlag |
| سنة النشر: | 2023 |
| المجموعة: | Université de Versailles Saint-Quentin-en-Yvelines: HAL-UVSQ |
| مصطلحات موضوعية: | Multisystemic proteinopathy, Muscle MRI, Valosin, VCP myopathy, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], [SDV.IB.IMA]Life Sciences [q-bio]/Bioengineering/Imaging |
| الوصف: | International audience ; Background: The diagnosis of patients with mutations in the VCP gene can be complicated due to their broad phenotypic spectrum including myopathy, motor neuron disease and peripheral neuropathy. Muscle MRI guides the diagnosis in neuromuscular diseases (NMDs); however, comprehensive muscle MRI features for VCP patients have not been reported so far.Methods: We collected muscle MRIs of 80 of the 255 patients who participated in the “VCP International Study” and reviewed the T1-weighted (T1w) and short tau inversion recovery (STIR) sequences. We identified a series of potential diagnostic MRI based characteristics useful for the diagnosis of VCP disease and validated them in 1089 MRIs from patients with other genetically confirmed NMDs.Results: Fat replacement of at least one muscle was identified in all symptomatic patients. The most common finding was the existence of patchy areas of fat replacement. Although there was a wide variability of muscles affected, we observed a common pattern characterized by the involvement of periscapular, paraspinal, gluteal and quadriceps muscles. STIR signal was enhanced in 67% of the patients, either in the muscle itself or in the surrounding fascia. We identified 10 diagnostic characteristics based on the pattern identified that allowed us to distinguish VCP disease from other neuromuscular diseases with high accuracy.Conclusions: Patients with mutations in the VCP gene had common features on muscle MRI that are helpful for diagnosis purposes, including the presence of patchy fat replacement and a prominent involvement of the periscapular, paraspinal, abdominal and thigh muscles. |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| Relation: | info:eu-repo/semantics/altIdentifier/pmid/37603075; hal-04195135; https://hal.science/hal-04195135; https://hal.science/hal-04195135/document; https://hal.science/hal-04195135/file/s00415-023-11862-4.pdf; PUBMED: 37603075 |
| DOI: | 10.1007/s00415-023-11862-4 |
| الاتاحة: | https://hal.science/hal-04195135 https://hal.science/hal-04195135/document https://hal.science/hal-04195135/file/s00415-023-11862-4.pdf https://doi.org/10.1007/s00415-023-11862-4 |
| Rights: | http://creativecommons.org/licenses/by/ ; info:eu-repo/semantics/OpenAccess |
| رقم الانضمام: | edsbas.1339F0E3 |
| قاعدة البيانات: | BASE |
| DOI: | 10.1007/s00415-023-11862-4 |
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