Article (Scientific journals)
Muscle MRI in patients with dysferlinopathy: pattern recognition and implications for clinical trials.
Diaz-Manera, Jordi; Fernandez-Torron, Roberto; LLauger, Jaume et al.
2018In Journal of Neurology, Neurosurgery and Psychiatry, 89 (10), p. 1071-1081
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Keywords :
dysferlinopathy; muscle MRI; muscular dystrophy; outcome measures
Abstract :
[en] 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.
Disciplines :
Pediatrics
Neurology
Author, co-author :
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
Servais, Laurent ;  Université de Liège - ULiège > Département des sciences cliniques > Neuropédiatrie
More authors (51 more) Less
Language :
English
Title :
Muscle MRI in patients with dysferlinopathy: pattern recognition and implications for clinical trials.
Publication date :
2018
Journal title :
Journal of Neurology, Neurosurgery and Psychiatry
ISSN :
0022-3050
eISSN :
1468-330X
Publisher :
BMJ Publishing Group, United Kingdom
Volume :
89
Issue :
10
Pages :
1071-1081
Peer reviewed :
Peer Reviewed verified by ORBi
Commentary :
(c) Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2018. All rights reserved. No commercial use is permitted unless otherwise expressly granted.
Available on ORBi :
since 14 February 2019

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