Muscle MRI in patients with dysferlinopathy: pattern recognition and implications for clinical trials
Jordi Diaz-Manera
(1)
,
Roberto Fernandez-Torron
,
Jaume Llauger
,
Meredith K James
,
Anna Mayhew
,
Fiona Smith
(2)
,
Ursula R Moore
,
Andrew M Blamire
(2)
,
Pierre Carlier
(3)
,
Laura Rufibach
,
Plavi Mittal
,
Michelle Eagle
,
Marni Jacobs
(4)
,
Tim Hodgson
(2)
,
Dorothy Wallace
(2)
,
Louise Ward
(2)
,
Mark E. Smith
(3)
,
Roberto Stramare
(5)
,
Alessandro Rampado
(5)
,
Noriko Sato
,
Takeshi Tamaru
,
Bruce Harwick
,
Susana Rico Gala
,
Suna Turk
(3)
,
Eva M Coppenrath
(6)
,
Glenn Foster
(1, 7)
,
David Bendahan
(8, 7)
,
Yann Le Fur
(7)
,
Stanley T Fricke
,
Hansel Otero
,
Sheryl L Foster
(9)
,
Anthony Peduto
(9)
,
Anne Marie Sawyer
(10)
,
Heather Hilsden
,
Hanns Lochmuller
,
Ulrike Grieben
(11)
,
Simone Spuler
(11)
,
Carolina Tesi Rocha
(10)
,
John Day
(10)
,
Kristi J Jones
(9)
,
Diana X Bharucha-Goebel
(12)
,
Emmanuelle Salort-Campana
(13)
,
Matthew Harms
(14)
,
Alan Pestronk
(14)
,
Sabine Krause
(6)
,
Olivia Schreiber-Katz
(6)
,
Maggie C. Walter
(6)
,
Carmen Paradas
,
Jean-Yves Hogrel
(3)
,
Tanya Stojkovic
(3)
,
Shin’ichi Takeda
,
Madoka Mori-Yoshimura
,
Elena Bravver
,
Susan Sparks
,
Luca Bello
(5)
,
Claudio Semplicini
(5)
,
Elena Pegoraro
(5)
,
Jerry R Mendell
,
Kate Bushby
,
Volker Straub
1
CIBER de Enfermedades Raras (CIBERER)
2 Newcastle University [Newcastle]
3 Institut de Myologie
4 GU - Georgetown University [Washington]
5 Unipd - Università degli Studi di Padova = University of Padua
6 LMU - Ludwig Maximilian University [Munich] = Ludwig Maximilians Universität München
7 AMU - Aix Marseille Université
8 CRMBM - Centre de résonance magnétique biologique et médicale
9 The University of Sydney
10 Stanford School of Medicine [Stanford]
11 MDC - Max Delbrück Center for Molecular Medicine [Berlin]
12 NINDS - National Institute of Neurological Disorders and Stroke [Bethesda]
13 Neurologie, maladies neuro-musculaires [Hôpital de la Timone - APHM]
14 WUSTL - Washington University in Saint Louis
2 Newcastle University [Newcastle]
3 Institut de Myologie
4 GU - Georgetown University [Washington]
5 Unipd - Università degli Studi di Padova = University of Padua
6 LMU - Ludwig Maximilian University [Munich] = Ludwig Maximilians Universität München
7 AMU - Aix Marseille Université
8 CRMBM - Centre de résonance magnétique biologique et médicale
9 The University of Sydney
10 Stanford School of Medicine [Stanford]
11 MDC - Max Delbrück Center for Molecular Medicine [Berlin]
12 NINDS - National Institute of Neurological Disorders and Stroke [Bethesda]
13 Neurologie, maladies neuro-musculaires [Hôpital de la Timone - APHM]
14 WUSTL - Washington University in Saint Louis
Roberto Fernandez-Torron
- Fonction : Auteur
Jaume Llauger
- Fonction : Auteur
Meredith K James
- Fonction : Auteur
Anna Mayhew
- Fonction : Auteur
Ursula R Moore
- Fonction : Auteur
Laura Rufibach
- Fonction : Auteur
Plavi Mittal
- Fonction : Auteur
Michelle Eagle
- Fonction : Auteur
Noriko Sato
- Fonction : Auteur
Takeshi Tamaru
- Fonction : Auteur
Bruce Harwick
- Fonction : Auteur
Susana Rico Gala
- Fonction : Auteur
David Bendahan
- Fonction : Auteur
- PersonId : 753211
- IdHAL : david-ben-dahan
- ORCID : 0000-0002-1502-0958
- IdRef : 067208649
Stanley T Fricke
- Fonction : Auteur
Hansel Otero
- Fonction : Auteur
Heather Hilsden
- Fonction : Auteur
Hanns Lochmuller
- Fonction : Auteur
Simone Spuler
- Fonction : Auteur
- PersonId : 893142
Emmanuelle Salort-Campana
- Fonction : Auteur
- PersonId : 18130
- IdHAL : emmanuelle-campana-salort
- IdRef : 182693562
Carmen Paradas
- Fonction : Auteur
Shin’ichi Takeda
- Fonction : Auteur
Madoka Mori-Yoshimura
- Fonction : Auteur
Elena Bravver
- Fonction : Auteur
Susan Sparks
- Fonction : Auteur
Claudio Semplicini
- Fonction : Auteur
- PersonId : 793207
- ORCID : 0000-0003-0870-1349
Jerry R Mendell
- Fonction : Auteur
Kate Bushby
- Fonction : Auteur
Volker Straub
- Fonction : Auteur
- PersonId : 915050
Résumé
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.
Origine : Publication financée par une institution
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