Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP-mediated disease reveals characteristic features useful for diagnosis

Diana Esteller, Marianela Schiava, Rocío Nur Villar-Quiles, Boris Dibowski, Nadia Venturelli, Pascal Laforet, Jorge Alonso-Pérez, Montse Olive, Cristina Domínguez-González, Carmen Paradas, Beatriz Vélez, Anna Kostera-Pruszczyk, Biruta Kierdaszuk, Carmelo Rodolico, Kristl Claeys, Endre Pál, Edoardo Malfatti, Sarah Souvannanorath, Alicia Alonso-Jiménez, Willem de RidderEline De Smet, George Papadimas, Constantinos Papadopoulos, Sofia Xirou, Sushan Luo, Nuria Muelas, Juan J. Vilchez, Alba Ramos-Fransi, Mauro Monforte, Giorgio Tasca, Bjarne Udd, Johanna Palmio, Srtuhi Sri, Sabine Krause, Benedikt Schöser, Roberto Fernández-Torrón, Adolfo López de Munain, Elena Pegoraro, Maria Elena Farrugia, Mathias Vorgerd, Georgious Manousakis, Jean Baptiste Chanson, Aleksandra Nadaj-Pakleza, Hakan Cetin, Umesh Badrising, Jodi Warman-Chardon, Jorge Bevilacqua, Nicholas Earle, Mario Campero, Jorge Díaz, Chiseko Ikenaga, Thomas E. Lloyd, Ichizo Nishino, Yukako Nishimori, Yoshihiko Saito, Yasushi Oya, Yoshiaki Takahashi, Atsuko Nishikawa, Ryo Sasaki, Chiara Marini-Bettolo, Michela Guglieri, Volker Straub, Tanya Stojkovic, Robert Y. Carlier, Jordi Díaz-Manera

Research output: Contribution to journalArticlepeer-review

2 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)5849-5865
Number of pages17
JournalJournal of Neurology
Issue number12
StatePublished - Dec 2023

Bibliographical note

Publisher Copyright:
© 2023, The Author(s).


  • Multisystemic proteinopathy
  • Muscle MRI
  • VCP myopathy
  • Valosin

PubMed: MeSH publication types

  • Journal Article


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