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MRI in sarcoglycanopathies: a large international cohort study

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Harvard

Tasca, G, Monforte, M, Díaz-Manera, J, Brisca, G, Semplicini, C, D'Amico, A, Fattori, F, Pichiecchio, A, Berardinelli, A, Maggi, L, Maccagnano, E, Løkken, N, Marini-Bettolo, C, Munell, F, Sanchez, A, Alshaikh, N, Voermans, NC, Dastgir, J, Vlodavets, D, Haberlová, J, Magnano, G, Walter, MC, Quijano-Roy, S, Carlier, R-Y, van Engelen, BGM, Vissing, J, Straub, V, Bönnemann, CG, Mercuri, E, Muntoni, F, Pegoraro, E, Bertini, E, Udd, B, Ricci, E & Bruno, C 2018, 'MRI in sarcoglycanopathies: a large international cohort study', Journal of neurology, neurosurgery, and psychiatry, vol. 89, pp. 72-77. https://doi.org/10.1136/jnnp-2017-316736

APA

Tasca, G., Monforte, M., Díaz-Manera, J., Brisca, G., Semplicini, C., D'Amico, A., Fattori, F., Pichiecchio, A., Berardinelli, A., Maggi, L., Maccagnano, E., Løkken, N., Marini-Bettolo, C., Munell, F., Sanchez, A., Alshaikh, N., Voermans, N. C., Dastgir, J., Vlodavets, D., ... Bruno, C. (2018). MRI in sarcoglycanopathies: a large international cohort study. Journal of neurology, neurosurgery, and psychiatry, 89, 72-77. https://doi.org/10.1136/jnnp-2017-316736

CBE

Tasca G, Monforte M, Díaz-Manera J, Brisca G, Semplicini C, D'Amico A, Fattori F, Pichiecchio A, Berardinelli A, Maggi L, Maccagnano E, Løkken N, Marini-Bettolo C, Munell F, Sanchez A, Alshaikh N, Voermans NC, Dastgir J, Vlodavets D, Haberlová J, Magnano G, Walter MC, Quijano-Roy S, Carlier R-Y, van Engelen BGM, Vissing J, Straub V, Bönnemann CG, Mercuri E, Muntoni F, Pegoraro E, Bertini E, Udd B, Ricci E, Bruno C. 2018. MRI in sarcoglycanopathies: a large international cohort study. Journal of neurology, neurosurgery, and psychiatry. 89:72-77. https://doi.org/10.1136/jnnp-2017-316736

MLA

Vancouver

Author

Tasca, Giorgio ; Monforte, Mauro ; Díaz-Manera, Jordi ; Brisca, Giacomo ; Semplicini, Claudio ; D'Amico, Adele ; Fattori, Fabiana ; Pichiecchio, Anna ; Berardinelli, Angela ; Maggi, Lorenzo ; Maccagnano, Elio ; Løkken, Nicoline ; Marini-Bettolo, Chiara ; Munell, Francina ; Sanchez, Angel ; Alshaikh, Nahla ; Voermans, Nicol C ; Dastgir, Jahannaz ; Vlodavets, Dmitry ; Haberlová, Jana ; Magnano, Gianmichele ; Walter, Maggie C ; Quijano-Roy, Susana ; Carlier, Robert-Yves ; van Engelen, Baziel G M ; Vissing, John ; Straub, Volker ; Bönnemann, Carsten G ; Mercuri, Eugenio ; Muntoni, Francesco ; Pegoraro, Elena ; Bertini, Enrico ; Udd, Bjarne ; Ricci, Enzo ; Bruno, Claudio. / MRI in sarcoglycanopathies : a large international cohort study. In: Journal of neurology, neurosurgery, and psychiatry. 2018 ; Vol. 89. pp. 72-77.

Bibtex

@article{0d651c6d5467493e98fbfa937d1937c3,
title = "MRI in sarcoglycanopathies: a large international cohort study",
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.",
keywords = "Journal Article",
author = "Giorgio Tasca and Mauro Monforte and Jordi D{\'i}az-Manera and Giacomo Brisca and Claudio Semplicini and Adele D'Amico and Fabiana Fattori and Anna Pichiecchio and Angela Berardinelli and Lorenzo Maggi and Elio Maccagnano and Nicoline L{\o}kken and Chiara Marini-Bettolo and Francina Munell and Angel Sanchez and Nahla Alshaikh and Voermans, {Nicol C} and Jahannaz Dastgir and Dmitry Vlodavets and Jana Haberlov{\'a} and Gianmichele Magnano and Walter, {Maggie C} and Susana Quijano-Roy and Robert-Yves Carlier and {van Engelen}, {Baziel G M} and John Vissing and Volker Straub and B{\"o}nnemann, {Carsten G} and Eugenio Mercuri and Francesco Muntoni and Elena Pegoraro and Enrico Bertini and Bjarne Udd and Enzo Ricci and Claudio Bruno",
note = "{\textcopyright} Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2017. All rights reserved. No commercial use is permitted unless otherwise expressly granted.",
year = "2018",
doi = "10.1136/jnnp-2017-316736",
language = "English",
volume = "89",
pages = "72--77",
journal = "Journal of Neurology, Neurosurgery and Psychiatry",
issn = "0022-3050",
publisher = "B M J Group",

}

RIS

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

N1 - © Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2017. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

PY - 2018

Y1 - 2018

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.

KW - Journal Article

U2 - 10.1136/jnnp-2017-316736

DO - 10.1136/jnnp-2017-316736

M3 - Journal article

C2 - 28889091

VL - 89

SP - 72

EP - 77

JO - Journal of Neurology, Neurosurgery and Psychiatry

JF - Journal of Neurology, Neurosurgery and Psychiatry

SN - 0022-3050

ER -

ID: 52147707