Bibliographic Details
| Title: |
Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP-mediated disease reveals characteristic features useful for diagnosis. |
| Authors: |
Esteller, Diana1 (AUTHOR), Schiava, Marianela2 (AUTHOR), Villar-Quiles, Rocío-Nur3 (AUTHOR), Dibowski, Boris4 (AUTHOR), Venturelli, Nadia4 (AUTHOR), Laforet, Pascal5 (AUTHOR), Alonso-Pérez, Jorge6,7 (AUTHOR), Olive, Montse7,8 (AUTHOR), Domínguez-González, Cristina8,9 (AUTHOR), Paradas, Carmen10,11 (AUTHOR), Vélez, Beatriz10,11 (AUTHOR), Kostera-Pruszczyk, Anna12,13 (AUTHOR), Kierdaszuk, Biruta12,13 (AUTHOR), Rodolico, Carmelo14 (AUTHOR), Claeys, Kristl15 (AUTHOR), Pál, Endre16 (AUTHOR), Malfatti, Edoardo17 (AUTHOR), Souvannanorath, Sarah17 (AUTHOR), Alonso-Jiménez, Alicia18 (AUTHOR), de Ridder, Willem18 (AUTHOR) |
| Source: |
Journal of Neurology. Dec2023, Vol. 270 Issue 12, p5849-5865. 17p. |
| Subject Terms: |
*MAGNETIC resonance imaging, *MOTOR neuron diseases, *NEUROMUSCULAR diseases, *GLUTEAL muscles, *QUADRICEPS muscle, *SHOULDER injuries |
| Abstract: |
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. [ABSTRACT FROM AUTHOR] |
|
Copyright of Journal of Neurology is the property of Springer Nature and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.) |
| Database: |
Academic Search Complete |
