MRI in sarcoglycanopathies: a large international cohort study
Por:
Tasca, G, Monforte, M, Diaz-Manera, J, Brisca, G, Semplicini, C, D'Amico, A, Fattori, F, Pichiecchio, A, Berardinelli, A, Maggi, L, Maccagnano, E, Lokken, N, Marini-Bettolo, C, Munell, F, Sanchez, A, Alshaikh, N, Voermans, NC, Dastgir, J, Vlodavets, D, Haberlova, J, Magnano, G, Walter, MC, Quijano-Roy, S, Carlier, RY, van Engelen, BGM, Vissing, J, Straub, V, Bonnemann, CG, Mercuri, E, Muntoni, F, Pegoraro, E, Bertini, E, Udd, B, Ricci, E, Bruno, C
Publicada:
1 ene 2018
Resumen:
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.
Filiaciones:
Tasca, G:
Fdn Policlin Univ A Gemelli, Univ Cattol Sacro Cuore, Inst Neurol, Largo Gemelli 8, I-00168 Rome, Italy
Monforte, M:
Fdn Policlin Univ A Gemelli, Univ Cattol Sacro Cuore, Inst Neurol, Largo Gemelli 8, I-00168 Rome, Italy
Diaz-Manera, J:
Univ Autonoma Barcelona, Hosp Santa Creu & Sant Pau, Neuromuscular Disorders Unit, Dept Neurol, Barcelona, Spain
Ctr Invest Biomed Red Enfermedades Raras, Muscular & Neurodegenerat Dis, Barcelona, Spain
Brisca, G:
Ist Giannina Gaslini, Ctr Translat Myol & Neurodegenerat Dis, Genoa, Italy
Semplicini, C:
Bambino Gesu Pediat Hosp, Dept Neurosci, Unit Neuromuscular & Neurodegenerat Dis, Rome, Italy
Pichiecchio, A:
Natl Neurol Inst C Mondino, Dept Neuroradiol, Pavia, Italy
Berardinelli, A:
Natl Neurol Inst C Mondino, Child Neurol & Psychiat Unit, Pavia, Italy
Maggi, L:
Fdn IRCCS Ist Neurol Carlo Besta, UO Neuroimmunol & Malattie Neuromuscolari, Milan, Italy
Maccagnano, E:
Fdn IRCCS Ist Neurol Carlo Besta, UO Neuroradiol, Milan, Italy
Ctr Diagnost Italiano, Serv Diagnost Immagini, Milan, Italy
Lokken, N:
Univ Copenhagen, Copenhagen Neuromuscular Ctr, Rigshosp, Copenhagen, Denmark
Marini-Bettolo, C:
Newcastle Univ, Inst Med Genet, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, Tyne & Wear, England
Munell, F:
Hosp Univ Vall Hebron, Dept Pediat Neurol, Barcelona, Spain
Sanchez, A:
Hosp Univ Vall Hebron, Dept Radiol, Barcelona, Spain
Alshaikh, N:
Inst Child Hlth, Dubowitz Neuromuscular Ctr, UCL Great Ormond St, London, England
Voermans, NC:
Radboud Univ Nijmegen, Med Ctr, Donders Inst Brain Cognit & Behaviour, Dept Neurol, Nijmegen, Netherlands
Dastgir, J:
NIH, Natl Inst Neurol Disorders & Stroke, Bldg 10, Bethesda, MD 20892 USA
Vlodavets, D:
Pirogov Russian Natl Res Med Univ, Russian Children Neuromuscular Ctr, Veltischev Sci Res Clin Inst Pediat, Moscow, Russia
Haberlova, J:
Charles Univ Prague, Fac Med 2, Dept Paediat Neurol, Prague, Czech Republic
Univ Hosp Motol, Prague, Czech Republic
Magnano, G:
Ist Giannina Gaslini, Radiol Unit, Genoa, Italy
Walter, MC:
Ludwig Maximilians Univ Munchen, Dept Neurol, Friedrich Baur Inst, Munich, Germany
Quijano-Roy, S:
Hop Univ Paris Ile De France Ouest, AP HP, Unite Neuromusculaire, Serv Pediat, Garches, France
Univ Versailles UVSQ, U1179 INSERM, Ctr Reference Neuromusculaire GNMH, FILNEMUS, Paris, France
Carlier, RY:
Univ Hosp Paris Ile De France West, Dept Radiol, Neurolocomotor Div, Raymond Poincare Hosp,Publ Hosp Network Paris, Garches, France
van Engelen, BGM:
Radboud Univ Nijmegen, Med Ctr, Donders Inst Brain Cognit & Behaviour, Dept Neurol, Nijmegen, Netherlands
Vissing, J:
Univ Copenhagen, Copenhagen Neuromuscular Ctr, Rigshosp, Copenhagen, Denmark
Straub, V:
Newcastle Univ, Inst Med Genet, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, Tyne & Wear, England
Bonnemann, CG:
NIH, Natl Inst Neurol Disorders & Stroke, Bldg 10, Bethesda, MD 20892 USA
Mercuri, E:
Univ Cattol Sacro Cuore, Neuropsichiatria Infantile, Rome, Italy
Muntoni, F:
Inst Child Hlth, Dubowitz Neuromuscular Ctr, UCL Great Ormond St, London, England
Pegoraro, E:
Bambino Gesu Pediat Hosp, Dept Neurosci, Unit Neuromuscular & Neurodegenerat Dis, Rome, Italy
Udd, B:
Tampere Univ, Neuromuscular Res Ctr, Dept Neurol, Rome, Italy
Univ Hosp, Rome, Italy
Univ Helsinki, Folkhalsan Inst Genet, Helsinki, Finland
Univ Helsinki, Dept Med Genet, Helsinki, Finland
Vaasa Cent Hosp, Dept Neurol, Vaasa, Finland
Ricci, E:
Fdn Policlin Univ A Gemelli, Univ Cattol Sacro Cuore, Inst Neurol, Largo Gemelli 8, I-00168 Rome, Italy
Bruno, C:
Ist Giannina Gaslini, Ctr Translat Myol & Neurodegenerat Dis, Genoa, Italy
Univ Padua, Dept Neurosci, Padua, Italy.
Open Access
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