TY - JOUR
T1 - MRI in sarcoglycanopathies
T2 - a large international cohort study
AU - Tasca, Giorgio
AU - Monforte, Mauro
AU - Díaz-Manera, Jordi
AU - Brisca, Giacomo
AU - Semplicini, Claudio
AU - D'Amico, Adele
AU - Fattori, Fabiana
AU - Pichiecchio, Anna
AU - Berardinelli, Angela
AU - Maggi, Lorenzo
AU - Maccagnano, Elio
AU - Løkken, Nicoline
AU - Marini-Bettolo, Chiara
AU - Munell, Francina
AU - Sanchez, Angel
AU - Alshaikh, Nahla
AU - Voermans, Nicol C.
AU - Dastgir, Jahannaz
AU - Vlodavets, Dmitry
AU - Haberlová, Jana
AU - Magnano, Gianmichele
AU - Walter, Maggie C.
AU - Quijano-Roy, Susana
AU - Carlier, Robert Yves
AU - van Engelen, Baziel G.M.
AU - Vissing, John
AU - Straub, Volker
AU - Bönnemann, Carsten G.
AU - Mercuri, Eugenio
AU - Muntoni, Francesco
AU - Pegoraro, Elena
AU - Bertini, Enrico
AU - Udd, Bjarne
AU - Ricci, Enzo
AU - Bruno, Claudio
PY - 2018/1
Y1 - 2018/1
N2 - 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.
AB - 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.
U2 - 10.1136/jnnp-2017-316736
DO - 10.1136/jnnp-2017-316736
M3 - Journal article
C2 - 28889091
AN - SCOPUS:85039991338
SN - 0022-3050
VL - 89
SP - 72
EP - 77
JO - Journal of neurology, neurosurgery, and psychiatry
JF - Journal of neurology, neurosurgery, and psychiatry
IS - 1
ER -