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Research paper
MRI in sarcoglycanopathies: a large international cohort study
  1. Giorgio Tasca1,
  2. Mauro Monforte1,
  3. Jordi Díaz-Manera2,3,
  4. Giacomo Brisca4,
  5. Claudio Semplicini5,
  6. Adele D'Amico6,
  7. Fabiana Fattori6,
  8. Anna Pichiecchio7,
  9. Angela Berardinelli8,
  10. Lorenzo Maggi9,
  11. Elio Maccagnano10,11,
  12. Nicoline Løkken12,
  13. Chiara Marini-Bettolo13,
  14. Francina Munell14,
  15. Angel Sanchez15,
  16. Nahla Alshaikh16,
  17. Nicol C. Voermans17,
  18. Jahannaz Dastgir18,
  19. Dmitry Vlodavets19,
  20. Jana Haberlová20,
  21. Gianmichele Magnano21,
  22. Maggie C. Walter22,
  23. Susana Quijano-Roy23,
  24. Robert-Yves Carlier24,
  25. Baziel G. M. van Engelen17,
  26. John Vissing12,
  27. Volker Straub13,
  28. Carsten G. Bönnemann18,
  29. Eugenio Mercuri25,
  30. Francesco Muntoni16,
  31. Elena Pegoraro5,
  32. Enrico Bertini6,
  33. Bjarne Udd26,27,28,
  34. Enzo Ricci1,
  35. Claudio Bruno4
  1. 1Istituto di Neurologia, Università Cattolica del Sacro Cuore, Fondazione Policlinico Universitario 'A Gemelli', Rome, Italy
  2. 2Department of Neurology, Neuromuscular Disorders Unit, Universitat Autonoma de Barcelona, Hospital de la Santa Creu I Sant Pau, Barcelona, Spain
  3. 3Muscular and Neurodegenerative Disease, Centro de Investigación Biomédica en Red en Enfermedades Raras, Barcelona, Spain
  4. 4Center of Translational Myology and Neurodegenerative Diseases, Istituto Giannina Gaslini, Genova, Italy
  5. 5Department of Neuroscience, University of Padova, Padova, Italy
  6. 6Unit of Neuromuscular and Neurodegenerative Diseases, Department of Neurosciences, Bambino Gesù Children's Hospital, Rome, Italy
  7. 7Department of Neuroradiology, National Neurological Institute C Mondino, Pavia, Italy
  8. 8Child Neurology and Psychiatry Unit, National Neurological Institute C Mondino, Pavia, Italy
  9. 9UO Neuroimmunologia e Malattie Neuromuscolari, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy
  10. 10UO Neuroradiologia, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy
  11. 11Servizio di Diagnostica per Immagini, Centro Diagnostico Italiano, Milan, Italy
  12. 12Copenhagen Neuromuscular Center, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark
  13. 13The John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK
  14. 14Department of Pediatric Neurology, Hospital Universitari Vall d'Hebron, Barcelona, Spain
  15. 15Department of Radiology, Hospital Universitari Vall d'Hebron, Barcelona, Spain
  16. 16Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health, London, UK
  17. 17Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands
  18. 18National Institute of Neurological Disorders and Stroke, NIH, Bethesda, Maryland, USA
  19. 19Russian Children Neuromuscular Center, Veltischev Scientific Research Clinical Institute of Pediatrics, Pirogov Russian National Research Medical University, Moscow, Russia
  20. 20Department of Paediatric Neurology, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic
  21. 21Radiology Unit, Istituto Giannina Gaslini, Genova, Italy
  22. 22Friedrich-Baur-Institute, Department of Neurology, Ludwig-Maximilians-University of Munich, Munich, Germany
  23. 23Assistance Publique des Hôpitaux de Paris (AP-HP), Unité Neuromusculaire, Service de Pédiatrie, Hôpital Raymond Poincaré, Hôpitaux Universitaires Paris-Ile-de-France Ouest, Garches, U1179 INSERM, Université de Versailles (UVSQ), Centre de Référence Neuromusculaire GNMH, FILNEMUS, France
  24. 24Department of Radiology, Neurolocomotor Division, Raymond Poincaré Hospital, University Hospitals Paris-Ile-de-France West, Public Hospital Network of Paris, Garches, France
  25. 25Neuropsichiatria Infantile, Università Cattolica del Sacro Cuore, Rome, Italy
  26. 26Department of Neurology, Neuromuscular Research Center, Tampere University and University Hospital, Rome, Italy
  27. 27Folkhälsan Institute of Genetics and the Department of Medical Genetics, University of Helsinki, Helsinki, Finland
  28. 28Department of Neurology, Vaasa Central Hospital, Vaasa, Finland
  1. Correspondence to Dr. Giorgio Tasca, Instituto di Neurologia, Università Cattolica del Sacro Cuore, Fondazione Policlinico Universitario ‘A. Gemelli’, Largo A. Gemelli, 8, 00168 Rome, Italy; giorgiotasca81{at}gmail.com

Abstract

Objectives To characterise the pattern and spectrum of involvement on muscle MRI in a large cohort of patients with sarcoglycanopathies, which are limb-girdle muscular dystrophies (LGMD2C–2F) caused by mutations in one of the four genes coding for muscle sarcoglycans.

Methods Lower limb MRI scans of patients with LGMD2C–2F, ranging from severe childhood variants to milder adult-onset forms, were collected in 17 neuromuscular referral centres in Europe and USA. Muscle involvement was evaluated semiquantitatively on T1-weighted images according to a visual score, and the global pattern was assessed as well.

Results Scans from 69 patients were examined (38 LGMD2D, 18 LGMD2C, 12 LGMD2E and 1 LGMD2F). A common pattern of involvement was found in all the analysed scans irrespective of the mutated gene. The most and earliest affected muscles were the thigh adductors, glutei and posterior thigh groups, while lower leg muscles were relatively spared even in advanced disease. A proximodistal gradient of involvement of vasti muscles was a consistent finding in these patients, including the most severe ones.

Conclusions Muscle involvement on MRI is consistent in patients with LGMD2C–F and can be helpful in distinguishing sarcoglycanopathies from other LGMDs or dystrophinopathies, which represent the most common differential diagnoses. Our data provide evidence about selective susceptibility or resistance to degeneration of specific muscles when one of the sarcoglycans is deficient, as well as preliminary information about progressive involvement of the different muscles over time.

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Footnotes

  • Contributors GT, ER and CB conceived and designed the study. All the authors acquired and analysed the data. GT, MM and JD-M drafted manuscript and figures. All the authors gave the final approval to the current version of the manuscript.

  • Competing interests None declared.

  • Ethics approval This study was approved by the ethics committees of all the involved Institutions.

  • Provenance and peer review Not commissioned; externally peer reviewed.

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