Muscle MRI in patients with dysferlinopathy : pattern recognition and implications for clinical trials
Diaz-Manera, Jordi (Institut d'Investigació Biomèdica Sant Pau)
Fernandez-Torron, Roberto (MRC Centre for Neuromuscular Diseases)
LLauger, Jaume (Institut d'Investigació Biomèdica Sant Pau)
James, Meredith K. (MRC Centre for Neuromuscular Diseases)
Mayhew, Anna (MRC Centre for Neuromuscular Diseases)
Smith, Fiona E. (Newcastle University)
Moore, Ursula R. (MRC Centre for Neuromuscular Diseases)
Blamire, Andrew (Newcastle University)
Carlier, Pierre G. (Pitié-Salpêtrière University Hospital)
Rufibach, Laura (The Jain Foundation)
Mittal, Plavi (The Jain Foundation)
Eagle, Michelle (MRC Centre for Neuromuscular Diseases)
Jacobs, Marni (George Washington University)
Hodgson, Tim (Newcastle University)
Wallace, Dorothy (Newcastle University)
Ward, Louise (Newcastle University)
Smith, Mark (Nationwide Children's Hospital)
Stramare, Roberto (University of Padova)
Rampado, Alessandro (University of Padova)
Sato, Noriko (National Center Hospital, National Center of Neurology and Psychiatry)
Tamaru, Takeshi (National Center Hospital, National Center of Neurology and Psychiatry)
Harwick, Bruce (CMC Mercy Charlotte, Carolinas Healthcare System Neurosciences Institute)
Rico Gala, Susana (Hospital Universitario Virgen de Valme (Sevilla, Andalusia))
Turk, Suna (Pitié-Salpêtrière University Hospital)
Coppenrath, Eva M. (Ludwig-Maximilians-University)
Foster, Glenn (Washington University)
Bendahan, David (Aix-Marseille Université)
Le Fur, Yann (Aix-Marseille Université)
Fricke, Stanley T. (Children's National Health System)
Otero, Hansel (Children's National Health System)
Foster, Sheryl L. (University of Sydney)
Peduto, Anthony (University of Sydney)
Sawyer, Anne Marie (Stanford University School of Medicine)
Hilsden, Heather (MRC Centre for Neuromuscular Diseases)
Lochmuller, Hanns (MRC Centre for Neuromuscular Diseases)
Grieben, Ulrike (A Joint Co-operation of the Charité Medical Faculty and the Max Delbrück Center for Molecular Medicine)
Spuler, Simone (A Joint Co-operation of the Charité Medical Faculty and the Max Delbrück Center for Molecular Medicine)
Tesi Rocha, Carolina (Stanford University School of Medicine)
Day, John W. (Stanford University School of Medicine)
Jones, Kristi J. (Children's Hospital at Westmead, University of Sydney)
Bharucha-Goebel, Diana (National Institutes of Health (Bethesda, Estats Units d'Amèrica))
Salort-Campana, Emmanuelle (La Timone Hospital, Aix-Marseille Université)
Harms, Matthew (Washington University School of Medicine)
Pestronk, Alan (Washington University School of Medicine)
Krause, Sabine (Ludwig-Maximilians-University of Munich)
Schreiber-Katz, Olivia (Ludwig-Maximilians-University of Munich)
Walter, Maggie C. (Ludwig-Maximilians-University of Munich)
Paradas, Carmen (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia))
Hogrel, J.Y (AP-HP, G.H. Pitié-Salpêtrière)
Stojkovic, Tanya (AP-HP, G.H. Pitié-Salpêtrière)
Takeda, Shin'ichi (National Center Hospital, National Center of Neurology and Psychiatry)
Mori-Yoshimura, Madoka (National Center Hospital, National Center of Neurology and Psychiatry)
Bravver, Elena (Carolinas Healthcare System)
Sparks, Susan (Carolinas Healthcare System)
Bello, Luca (University of Padova)
Semplicini, Claudio (University of Padova)
Pegoraro, Elena (University of Padova)
Mendell, Jerry R. (Nationwide Children's Hospital)
Bushby, Kate (MRC Centre for Neuromuscular Diseases)
Straub, Volker (MRC Centre for Neuromuscular Diseases)
Universitat Autònoma de Barcelona

Fecha:	2018
Resumen:	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. 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. 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. 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.
Nota:	Altres ajuts: The estimated 4 million USD needed to fund this study is being provided by the Jain Foundation. The John Walton Centre Muscular Dystrophy Research Centre is part of the MRC Centre for Neuromuscular Diseases. (Grant number MR/K000608/1).
Derechos:	Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, fins i tot amb finalitats comercials, sempre i quan es reconegui l'autoria de l'obra original.
Lengua:	Anglès
Documento:	Article ; recerca ; Versió publicada
Materia:	Muscle MRI ; Muscular dystrophy ; Dysferlinopathy ; Outcome measures
Publicado en:	Journal of Neurology, Neurosurgery, and Psychiatry, Vol. 89 (may 2018) , p. 1071-1081, ISSN 1468-330X

DOI: 10.1136/jnnp-2017-317488
PMID: 29735511

11 p, 3.9 MB

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Documentos de investigación > Documentos de los grupos de investigación de la UAB > Centros y grupos de investigación (producción científica) > Ciencias de la salud y biociencias > Institut de Recerca Sant Pau
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