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European muscle MRI study in limb girdle muscular dystrophy type R1/2A (LGMDR1/LGMD2A).
Journal article

European muscle MRI study in limb girdle muscular dystrophy type R1/2A (LGMDR1/LGMD2A).

  • Barp A Department of Neurosciences DNS, Neuromuscular Centre, University of Padova, Padua, Italy. andrea.barp1985@libero.it.
  • Laforet P Neurology Department, Raymond-Poincaré Teaching Hospital, Centre de Référence Des Maladies Neuromusculaires Nord/Est/Ile-de-France, AP-HP, Garches, France.
  • Bello L Department of Neurosciences DNS, Neuromuscular Centre, University of Padova, Padua, Italy.
  • Tasca G Unità Operativa Complessa Di Neurologia, Dipartimento Di Scienze Dell'Invecchiamento, Neurologiche, Ortopediche E Della Testa-Colo, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.
  • Vissing J Copenhagen Neuromuscular Center, Rigshospitalet, University of Copenhagen, Copenhaghen, Denmark.
  • Monforte M Unità Operativa Complessa Di Neurologia, Dipartimento Di Scienze Dell'Invecchiamento, Neurologiche, Ortopediche E Della Testa-Colo, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.
  • Ricci E Unità Operativa Complessa Di Neurologia, Dipartimento Di Scienze Dell'Invecchiamento, Neurologiche, Ortopediche E Della Testa-Colo, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.
  • Choumert A Centre de Référence des Maladies Neuromusculaires PACA-Réunion-Rhônes-Alpes CHU, La Réunion, France.
  • Stojkovic T APHP, G-H Pitié-Salpêtrière, Institut de Myologie, Centre de Référence des Maladies Neuromusculaires Paris Est, Paris, France.
  • Malfatti E Neurology Department, Raymond-Poincaré Teaching Hospital, Centre de Référence Des Maladies Neuromusculaires Nord/Est/Ile-de-France, AP-HP, Garches, France.
  • Pegoraro E Department of Neurosciences DNS, Neuromuscular Centre, University of Padova, Padua, Italy.
  • Semplicini C Department of Neurosciences DNS, Neuromuscular Centre, University of Padova, Padua, Italy.
  • Stramare R Department of Medicine (DIMED), Institute of Radiology, University of Padova, Padua, Italy.
  • Scheidegger O Department of Neurology, Institute for Diagnostic and Interventional Neuroradiology, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland.
  • Haberlova J Department of Paediatric Neurology, Charles University in Prague, Prague, Czech Republic.
  • Straub V John Walton Muscular Dystrophy Research Centre, MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle Upon Tyne, UK.
  • Marini-Bettolo C John Walton Muscular Dystrophy Research Centre, MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle Upon Tyne, UK.
  • Løkken N Copenhagen Neuromuscular Center, Rigshospitalet, University of Copenhagen, Copenhaghen, Denmark.
  • Diaz-Manera J Unitat de Malalties Neuromusculars, Servei de Neurologia, Hospital de La Santa Creu I Sant Pau, Barcelona, Spain.
  • Urtizberea JA Centre de Compétence Neuromusculaire Filnemus/APHP, Hôpital Marin, Hendaye, France.
  • Mercuri E Pediatric Neurology and Nemo Clinical Centre, Università Cattolica Sacro Cuore, Fondazione Policlinico Universitario, A. Gemelli, Rome, Italy.
  • Kynčl M Radiology Department, Faculty Hospital Motol, Prague, Czech Republic.
  • Walter MC Friedrich-Baur Institut, Ludwig-Maximilians University Munich, Munich, Germany.
  • Carlier RY APHP, Department of Radiology, Garches Neuromuscular Center (GNMH), Raymond Poincaré University Hospital (UVSQ, U 1179), Garches, France.
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  • 2019-09-27
Published in:
  • Journal of neurology. - 2020
CAPN3 mutations
LGMDR1/LGMD2A
Mercuri score
Muscle MRI
Adolescent
Adult
Aged
Child
Europe
Female
Humans
Magnetic Resonance Imaging
Male
Middle Aged
Muscle, Skeletal
Muscular Dystrophies, Limb-Girdle
Young Adult
English BACKGROUND
Limb girdle muscular dystrophy type R1/2A (LGMDR1/LGMD2A) is a progressive myopathy caused by deficiency of calpain 3, a calcium-dependent cysteine protease of skeletal muscle, and it represents the most frequent type of LGMD worldwide. In the last few years, muscle magnetic resonance imaging (MRI) has been proposed as a tool for identifying patterns of muscular involvement in genetic disorders and as a biomarker of disease progression in muscle diseases. In this study, 57 molecularly confirmed LGMDR1 patients from a European cohort (age range 7-78 years) underwent muscle MRI and a global evaluation of functional status (Gardner-Medwin and Walton score and ability to raise the arms).


RESULTS
We confirmed a specific pattern of fatty substitution involving predominantly the hip adductors and hamstrings in lower limbs. Spine extensors were more severely affected than spine rotators, in agreement with higher incidence of lordosis than scoliosis in LGMDR1. Hierarchical clustering of lower limb MRI scores showed that involvement of anterior thigh muscles discriminates between classes of disease progression. Severity of muscle fatty substitution was significantly correlated with CAPN3 mutations: in particular, patients with no or one "null" alleles showed a milder involvement, compared to patients with two null alleles (i.e., predicting absence of calpain-3 protein). Expectedly, fat infiltration scores strongly correlated with functional measures. The "pseudocollagen" sign (central areas of sparing in some muscle) was associated with longer and more severe disease course.


CONCLUSIONS
We conclude that skeletal muscle MRI represents a useful tool in the diagnostic workup and clinical management of LGMDR1.
Language
  • English
Open access status
closed
Identifiers
Persistent URL
https://sonar.ch/global/documents/123342
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