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Lookup NU author(s): Dr Marianela Schiava, Jose Verdú-DíazORCiD, Professor Giorgio TascaORCiD, Professor Volker StraubORCiD, Dr Chiara Marini Bettolo, Professor Michela GuglieriORCiD, Professor Jordi Diaz ManeraORCiD
This work is licensed under a Creative Commons Attribution 4.0 International License (CC BY 4.0).
© 2023, The Author(s). 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.
Author(s): Esteller D, Schiava M, Verdú-Díaz J, Villar-Quiles R-N, Dibowski B, Venturelli N, Laforet P, Alonso-Perez J, Olive M, Dominguez-Gonzalez C, Paradas C, Velez B, Kostera-Pruszczyk A, Kierdaszuk B, Rodolico C, Claeys K, Pal E, Malfatti E, Souvannanorath S, Alonso-Jimenez A, de Ridder W, De Smet E, Papadimas G, Xirou S, Papadopoulos C, Luo S, Muelas N, Vilchez JJ, Ramos-Fransi A, Monforte M, Tasca G, Udd B, Palmio J, Sri S, Krause S, Schoser B, Fernandez-Torron R, Lopez de Munain A, Pegoraro E, Farrugia ME, Vorgerd M, Manousakis G, Chanson JB, Nadaj-Pakleza A, Cetin H, Badrising U, Warman-Chardon J, Bevilacqua J, Earle N, Campero M, Diaz J, Ikenaga C, Lloyd TE, Nishimori Y, Nishino I, Saito Y, Oya Y, Takahashi Y, Nishikawa A, Straub V, Sasaki R, Marini-Bettolo C, Guglieri M, Stojkovic T, Carlier RY, Diaz-Manera J
Publication type: Article
Publication status: Published
Journal: Journal of Neurology
Year: 2023
Volume: 270
Pages: 5849-5865
Print publication date: 01/12/2023
Online publication date: 21/08/2023
Acceptance date: 01/07/2023
Date deposited: 19/09/2023
ISSN (print): 0340-5354
ISSN (electronic): 1432-1459
Publisher: Springer Science and Business Media Deutschland GmbH
URL: https://doi.org/10.1007/s00415-023-11862-4
DOI: 10.1007/s00415-023-11862-4
PubMed id: 37603075
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