Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP-mediated disease reveals characteristic features useful for diagnosis.
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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DOI：
10.1007/s00415-023-11862-4
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发表时间：
2023-12
影响因子：
6
通讯作者：
Diaz-Manera, Jordi
中科院分区：
文献类型：
--
作者：
Esteller, Diana;Schiava, Marianela;Villar-Quiles, Rocio-Nur;Dibowski, Boris;Venturelli, Nadia;Laforet, Pascal;Alonso-Perez, Jorge;Olive, Montse;Dominguez-Gonzalez, Cristina;Paradas, Carmen;Velez, Beatriz;Kostera-Pruszczyk, Anna;Kierdaszuk, Biruta;Rodolico, Carmelo;Claeys, Kristl;Pal, Endre;Malfatti, Edoardo;Souvannanorath, Sarah;Alonso-Jimenez, Alicia;de Ridder, Willem;De Smet, Eline;Papadimas, George;Papadopoulos, Constantinos;Xirou, Sofia;Luo, Sushan;Muelas, Nuria;Vilchez, Juan J.;Ramos-Fransi, Alba;Monforte, Mauro;Tasca, Giorgio;Udd, Bjarne;Palmio, Johanna;Sri, Srtuhi;Krause, Sabine;Schoeser, Benedikt;Fernandez-Torron, Roberto;Lopez de Munain, Adolfo;Pegoraro, Elena;Farrugia, Maria Elena;Vorgerd, Mathias;Manousakis, Georgious;Chanson, Jean Baptiste;Nadaj-Pakleza, Aleksandra;Cetin, Hakan;Badrising, Umesh;Warman-Chardon, Jodi;Bevilacqua, Jorge;Earle, Nicholas;Campero, Mario;Diaz, 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, Volker;Stojkovic, Tanya;Carlier, Robert Y.;Diaz-Manera, Jordi
VCP基因突变患者的诊断可能会因其广泛的表型谱而变得复杂，包括肌病、运动神经元疾病和周围神经病。肌肉MRI可指导神经肌肉疾病（NMD）的诊断;然而，迄今为止尚未报道VCP患者的全面肌肉MRI特征。我们收集了255名参与“VCP国际研究”的患者中的80名的肌肉MRI，并回顾了T1加权（T1 w）和短tau反转恢复（STIR）序列。我们确定了一系列潜在的诊断MRI为基础的特点，用于VCP疾病的诊断和验证他们在1089例MRI从其他基因证实的NMD患者。在所有有症状的患者中发现至少一块肌肉的脂肪替代。最常见的发现是存在脂肪替代的斑片状区域。虽然有一个广泛的变化，肌肉受影响，我们观察到一个共同的模式，其特点是参与肩胛骨，椎旁，臀肌和四头肌。67%的患者的STIR信号增强，无论是在肌肉本身还是在周围筋膜中。我们根据所确定的模式确定了10个诊断特征，这些特征使我们能够高准确度地将VCP疾病与其他神经肌肉疾病区分开来。VCP基因突变的患者在肌肉MRI上具有有助于诊断目的的共同特征，包括存在斑片状脂肪替代以及肩胛周围、脊柱旁、腹部和大腿肌肉的显著受累。在线版本包含补充材料，可通过10.1007/s 00415 -023-11862-4获得。
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. 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. 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. 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. The online version contains supplementary material available at 10.1007/s00415-023-11862-4.
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影响因子：
6
作者：
Garibaldi M;Tasca G;Diaz-Manera J;Ottaviani P;Laschena F;Pantoli D;Gerevini S;Fiorillo C;Maggi L;Tasca E;D'Amico A;Musumeci O;Toscano A;Bruno C;Massa R;Angelini C;Bertini E;Antonini G;Pennisi EM
通讯作者：
Pennisi EM
影响因子：
11
作者：
Schiava，Marianela;Ikenaga，Chiseko;Diaz-Manera，Jordi
通讯作者：
Diaz-Manera，Jordi
影响因子：
2.6
作者：
Kobayashi, Ryota;Naruse, Hiroya;Kawakatsu, Shinobu;Iseki, Chifumi;Suzuki, Yuya;Koyama, Shingo;Morioka, Daichi;Ishiura, Hiroyuki;Mitsui, Jun;Ohta, Yasuyuki;Tsuji, Shoji;Toda, Tatsushi;Otani, Koichi
通讯作者：
Otani, Koichi
影响因子：
6
作者：
Barp, Andrea;Laforet, Pascal;Carlier, Robert Y.
通讯作者：
Carlier, Robert Y.
影响因子：
2.1
作者：
Dell'Atti, C.;Cassar-Pullicino, V. N.;Lalam, R. K.;Tins, B. J.;Tyrrell, P. N. M.
通讯作者：
Tyrrell, P. N. M.