RT Journal Article
SR Electronic
T1 Muscle MRI in patients with dysferlinopathy: pattern recognition and implications for clinical trials
JF Journal of Neurology, Neurosurgery & Psychiatry
JO J Neurol Neurosurg Psychiatry
FD BMJ Publishing Group Ltd
SP jnnp-2017-317488
DO 10.1136/jnnp-2017-317488
A1 Jordi Diaz-Manera
A1 Roberto Fernandez-Torron
A1 Jaume LLauger
A1 Meredith K James
A1 Anna Mayhew
A1 Fiona E Smith
A1 Ursula R Moore
A1 Andrew M Blamire
A1 Pierre G Carlier
A1 Laura Rufibach
A1 Plavi Mittal
A1 Michelle Eagle
A1 Marni Jacobs
A1 Tim Hodgson
A1 Dorothy Wallace
A1 Louise Ward
A1 Mark Smith
A1 Roberto Stramare
A1 Alessandro Rampado
A1 Noriko Sato
A1 Takeshi Tamaru
A1 Bruce Harwick
A1 Susana Rico Gala
A1 Suna Turk
A1 Eva M Coppenrath
A1 Glenn Foster
A1 David Bendahan
A1 Yann Le Fur
A1 Stanley T Fricke
A1 Hansel Otero
A1 Sheryl L Foster
A1 Anthony Peduto
A1 Anne Marie Sawyer
A1 Heather Hilsden
A1 Hanns Lochmuller
A1 Ulrike Grieben
A1 Simone Spuler
A1 Carolina Tesi Rocha
A1 John W Day
A1 Kristi J Jones
A1 Diana X Bharucha-Goebel
A1 Emmanuelle Salort-Campana
A1 Matthew Harms
A1 Alan Pestronk
A1 Sabine Krause
A1 Olivia Schreiber-Katz
A1 Maggie C Walter
A1 Carmen Paradas
A1 Jean-Yves Hogrel
A1 Tanya Stojkovic
A1 Shin’ichi Takeda
A1 Madoka Mori-Yoshimura
A1 Elena Bravver
A1 Susan Sparks
A1 Luca Bello
A1 Claudio Semplicini
A1 Elena Pegoraro
A1 Jerry R Mendell
A1 Kate Bushby
A1 Volker Straub
A1 ,
YR 2018
UL http://jnnp.bmj.com/content/early/2018/05/06/jnnp-2017-317488.abstract
AB 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.