Muscle MRI in patients with dysferlinopathy: pattern recognition and implications for clinical trials. Issue 10 (7th May 2018)

• Record Type: Journal Article
• Authors: Diaz-Manera, Jordi; Fernandez-Torron, Roberto; LLauger, Jaume; James, Meredith K; Mayhew, Anna; Smith, Fiona E; Moore, Ursula R; Blamire, Andrew M; Carlier, Pierre G; Rufibach, Laura; Mittal, Plavi; Eagle, Michelle; Jacobs, Marni; Hodgson, Tim; Wallace, Dorothy; Ward, Louise; Smith, Mark; Stramare, Roberto; Rampado, Alessandro; Sato, Noriko; Tamaru, Takeshi; Harwick, Bruce; Rico Gala, Susana; Turk, Suna; Coppenrath, Eva M; Foster, Glenn; Bendahan, David; Le Fur, Yann; Fricke, Stanley T; Otero, Hansel; Foster, Sheryl L; Peduto, Anthony; Sawyer, Anne Marie; Hilsden, Heather; Lochmuller, Hanns; Grieben, Ulrike; Spuler, Simone; Tesi Rocha, Carolina; Day, John W; Jones, Kristi J; Bharucha-Goebel, Diana X; Salort-Campana, Emmanuelle; Harms, Matthew; Pestronk, Alan; Krause, Sabine; Schreiber-Katz, Olivia; Walter, Maggie C; Paradas, Carmen; Hogrel, Jean-Yves; Stojkovic, Tanya; Takeda, Shin'ichi; Mori-Yoshimura, Madoka; Bravver, Elena; Sparks, Susan; Bello, Luca; Semplicini, Claudio; Pegoraro, Elena; Mendell, Jerry R; Bushby, Kate; Straub, Volker;
• Other Names: author non-byline.; Arrieta Adrienne author non-byline.; Feng Jia author non-byline.; Hwang Esther author non-byline.; Lee Elaine author non-byline.; Illa Isabel author non-byline.; Gallardo Eduard author non-byline.; Hernández Irene Pedrosa author non-byline.; Jimeno Izaskun Belmonte author non-byline.; Maron Elke author non-byline.; Prügel Juliana author non-byline.; Sanjak Mohammed author non-byline.; Sykes Jackie author non-byline.; Lowes Linda P author non-byline.; Alfano Lindsay author non-byline.; Berry Katherine author non-byline.; Yetter Brent author non-byline.; Lapeyssonie Bernard author non-byline.; Shahram Attarian author non-byline.; Albane Testot-ferry author non-byline.; Thiele Simone author non-byline.; Bettinson Karen author non-byline.; Lofra Robert Muni author non-byline.; Harris Elizabeth author non-byline.; Moat Dionne author non-byline.; Galley Debra author non-byline.; Calore Chiara author non-byline.; Gidaro Teresa author non-byline.; Servais Laurent author non-byline.; Canal Aurélie author non-byline.; Ollivier Gwenn author non-byline.; Decostre Valérie author non-byline.; Theis Cyrille author non-byline.; Diabaté Oumar author non-byline.; Florence Julaine author non-byline.; Schimmoeller Linda author non-byline.; Siener Catherine author non-byline.; Schierbecker Jeanine author non-byline.; Méndez Bosco author non-byline.; Carbonell Pilar author non-byline.; Sanchez-aguilar Nieves author non-byline.; Cabrera Macarena author non-byline.; Morgado Yolanda author non-byline.; Gee Richard author non-byline.; Duong Tina author non-byline.; Perez Jennifer author non-byline.; Clarke Nigel F author non-byline.; Sandaradura Sarah author non-byline.; Ghaoui Roula author non-byline.; Cornett Kayla author non-byline.; Miller Clare author non-byline.; Harman Meghan author non-byline.; Rose Kristy author non-byline.; Kobayashi Yoko author non-byline.; Yajima Hiroyuki author non-byline.; Sakamoto Chikako author non-byline.; Tateishi Takayuki author non-byline.; Ashida Ai author non-byline.; Nakayama Takahiro author non-byline.; Segawa Kazuhiko author non-byline.; Ohtaguro Sachiko author non-byline.; Nakamura Harumasa author non-byline.; Ohhata Maki author non-byline.; Kimura En author non-byline.; Endo Makiko author non-byline.; Drogo Brittney author non-byline.; Brody Nora author non-byline.; Leach Meganne E author non-byline.; Toles Allyn author non-byline.;
• Is Part Of: Journal of neurology, neurosurgery and psychiatry. Volume 89:Issue 10(2018)
• Page Start: 1071
• Page End: 1081
• Publication Date: 2018-05-07
• Subjects: muscle MRI -- muscular dystrophy -- dysferlinopathy -- outcome measures; Neurology -- Periodicals; Nervous system -- Surgery -- Periodicals; Psychiatry -- Periodicals; 616.8
• DOI: 10.1136/jnnp-2017-317488
• Languages: English
• ISSNs: 0022-3050

Abstract

Abstract : Background and objective: Dysferlinopathies are a group of muscle disorders caused by mutations in the DYSF gene. Previous muscle imaging studies describe a selective pattern of muscle involvement in smaller patient cohorts, but a large imaging study across the entire spectrum of the dysferlinopathies had not been performed and previous imaging findings were not correlated with functional tests. Methods: We present cross-sectional T1-weighted muscle MRI data from 182 patients with genetically confirmed dysferlinopathies. We have analysed the pattern of muscles involved in the disease using hierarchical analysis and presented it as heatmaps. Results of the MRI scans have been correlated with relevant functional tests for each region of the body analysed. Results: In 181 of the 182 patients scanned, we observed muscle pathology on T1-weighted images, with the gastrocnemius medialis and the soleus being the most commonly affected muscles. A similar pattern of involvement was identified in most patients regardless of their clinical presentation. Increased muscle pathology on MRI correlated positively with disease duration and functional impairment. Conclusions: The information generated by this study is of high diagnostic value and important for clinical trial development. We have been able to describe a pattern that can be considered as characteristic of dysferlinopathy. We have defined the natural history of the disease from a radiological point of view. These results enabled the identification of the most relevant regions of interest for quantitative MRI in longitudinal studies, such as clinical trials. Clinical trial registration: NCT01676077 .