-
Something wrong with this record ?
MRI in sarcoglycanopathies: a large international cohort study
G. Tasca, M. Monforte, J. Díaz-Manera, G. Brisca, C. Semplicini, A. D'Amico, F. Fattori, A. Pichiecchio, A. Berardinelli, L. Maggi, E. Maccagnano, N. Løkken, C. Marini-Bettolo, F. Munell, A. Sanchez, N. Alshaikh, NC. Voermans, J. Dastgir, D....
Language English Country Great Britain
Document type Journal Article
NLK
ProQuest Central
from 1944-07-01 to 6 months ago
Nursing & Allied Health Database (ProQuest)
from 1944-07-01 to 6 months ago
Health & Medicine (ProQuest)
from 1944-07-01 to 6 months ago
Psychology Database (ProQuest)
from 1944-07-01 to 6 months ago
- MeSH
- Child MeSH
- Adult MeSH
- Phenotype MeSH
- Muscle, Skeletal pathology MeSH
- Middle Aged MeSH
- Humans MeSH
- Magnetic Resonance Imaging methods MeSH
- Adolescent MeSH
- Mutation MeSH
- Child, Preschool MeSH
- Sarcoglycanopathies genetics MeSH
- Sarcoglycans deficiency genetics MeSH
- Check Tag
- Child MeSH
- Adult MeSH
- Middle Aged MeSH
- Humans MeSH
- Adolescent MeSH
- Male MeSH
- Child, Preschool MeSH
- Female MeSH
- Publication type
- Journal Article MeSH
- Geographicals
- Europe MeSH
- United States MeSH
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.
Assistance Publique des Hôpitaux de Paris Centre de Référence Neuromusculaire GNMH FILNEMUS France
Child Neurology and Psychiatry Unit National Neurological Institute C Mondino Pavia Italy
Copenhagen Neuromuscular Center Rigshospitalet University of Copenhagen Copenhagen Denmark
Department of Neuroradiology National Neurological Institute C Mondino Pavia Italy
Department of Neuroscience University of Padova Padova Italy
Department of Pediatric Neurology Hospital Universitari Vall d'Hebron Barcelona Spain
Department of Radiology Hospital Universitari Vall d'Hebron Barcelona Spain
Dubowitz Neuromuscular Centre UCL Great Ormond Street Institute of Child Health London UK
National Institute of Neurological Disorders and Stroke NIH Bethesda Maryland USA
Neuropsichiatria Infantile Università Cattolica del Sacro Cuore Rome Italy
References provided by Crossref.org
- 000
- 00000naa a2200000 a 4500
- 001
- bmc18010345
- 003
- CZ-PrNML
- 005
- 20180417155710.0
- 007
- ta
- 008
- 180404s2018 xxk f 000 0|eng||
- 009
- AR
- 024 7_
- $a 10.1136/jnnp-2017-316736 $2 doi
- 035 __
- $a (PubMed)28889091
- 040 __
- $a ABA008 $b cze $d ABA008 $e AACR2
- 041 0_
- $a eng
- 044 __
- $a xxk
- 100 1_
- $a Tasca, Giorgio $u Istituto di Neurologia, Università Cattolica del Sacro Cuore, Fondazione Policlinico Universitario 'A Gemelli', Rome, Italy.
- 245 10
- $a MRI in sarcoglycanopathies: a large international cohort study / $c G. Tasca, M. Monforte, J. Díaz-Manera, G. Brisca, C. Semplicini, A. D'Amico, F. Fattori, A. Pichiecchio, A. Berardinelli, L. Maggi, E. Maccagnano, N. Løkken, C. Marini-Bettolo, F. Munell, A. Sanchez, N. Alshaikh, NC. Voermans, J. Dastgir, D. Vlodavets, J. Haberlová, G. Magnano, MC. Walter, S. Quijano-Roy, RY. Carlier, BGM. van Engelen, J. Vissing, V. Straub, CG. Bönnemann, E. Mercuri, F. Muntoni, E. Pegoraro, E. Bertini, B. Udd, E. Ricci, C. Bruno,
- 520 9_
- $a 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.
- 650 _2
- $a mladiství $7 D000293
- 650 _2
- $a dospělí $7 D000328
- 650 _2
- $a dítě $7 D002648
- 650 _2
- $a předškolní dítě $7 D002675
- 650 _2
- $a Evropa $7 D005060
- 650 _2
- $a ženské pohlaví $7 D005260
- 650 _2
- $a lidé $7 D006801
- 650 _2
- $a magnetická rezonanční tomografie $x metody $7 D008279
- 650 _2
- $a mužské pohlaví $7 D008297
- 650 _2
- $a lidé středního věku $7 D008875
- 650 _2
- $a kosterní svaly $x patologie $7 D018482
- 650 _2
- $a mutace $7 D009154
- 650 _2
- $a fenotyp $7 D010641
- 650 _2
- $a sarkoglykanopatie $x genetika $7 D058088
- 650 _2
- $a sarkoglykany $x nedostatek $x genetika $7 D049031
- 650 _2
- $a Spojené státy americké $7 D014481
- 655 _2
- $a časopisecké články $7 D016428
- 700 1_
- $a Monforte, Mauro $u Istituto di Neurologia, Università Cattolica del Sacro Cuore, Fondazione Policlinico Universitario 'A Gemelli', Rome, Italy.
- 700 1_
- $a Díaz-Manera, Jordi $u Department of Neurology, Neuromuscular Disorders Unit, Universitat Autonoma de Barcelona, Hospital de la Santa Creu I Sant Pau, Barcelona, Spain. Muscular and Neurodegenerative Disease, Centro de Investigación Biomédica en Red en Enfermedades Raras, Barcelona, Spain.
- 700 1_
- $a Brisca, Giacomo $u Center of Translational Myology and Neurodegenerative Diseases, Istituto Giannina Gaslini, Genova, Italy.
- 700 1_
- $a Semplicini, Claudio $u Department of Neuroscience, University of Padova, Padova, Italy.
- 700 1_
- $a D'Amico, Adele $u Unit of Neuromuscular and Neurodegenerative Diseases, Department of Neurosciences, Bambino Gesù Children's Hospital, Rome, Italy.
- 700 1_
- $a Fattori, Fabiana $u Unit of Neuromuscular and Neurodegenerative Diseases, Department of Neurosciences, Bambino Gesù Children's Hospital, Rome, Italy.
- 700 1_
- $a Pichiecchio, Anna $u Department of Neuroradiology, National Neurological Institute C Mondino, Pavia, Italy.
- 700 1_
- $a Berardinelli, Angela $u Child Neurology and Psychiatry Unit, National Neurological Institute C Mondino, Pavia, Italy.
- 700 1_
- $a Maggi, Lorenzo $u UO Neuroimmunologia e Malattie Neuromuscolari, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
- 700 1_
- $a Maccagnano, Elio $u UO Neuroradiologia, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy. Servizio di Diagnostica per Immagini, Centro Diagnostico Italiano, Milan, Italy.
- 700 1_
- $a Løkken, Nicoline $u Copenhagen Neuromuscular Center, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark.
- 700 1_
- $a Marini-Bettolo, Chiara $u The John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK.
- 700 1_
- $a Munell, Francina $u Department of Pediatric Neurology, Hospital Universitari Vall d'Hebron, Barcelona, Spain.
- 700 1_
- $a Sanchez, Angel $u Department of Radiology, Hospital Universitari Vall d'Hebron, Barcelona, Spain.
- 700 1_
- $a Alshaikh, Nahla $u Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health, London, UK.
- 700 1_
- $a Voermans, Nicol C $u Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
- 700 1_
- $a Dastgir, Jahannaz $u National Institute of Neurological Disorders and Stroke, NIH, Bethesda, Maryland, USA.
- 700 1_
- $a Vlodavets, Dmitry $u Russian Children Neuromuscular Center, Veltischev Scientific Research Clinical Institute of Pediatrics, Pirogov Russian National Research Medical University, Moscow, Russia.
- 700 1_
- $a Haberlová, Jana $u Department of Paediatric Neurology, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic.
- 700 1_
- $a Magnano, Gianmichele $u Radiology Unit, Istituto Giannina Gaslini, Genova, Italy.
- 700 1_
- $a Walter, Maggie C $u Friedrich-Baur-Institute, Department of Neurology, Ludwig-Maximilians-University of Munich, Munich, Germany.
- 700 1_
- $a Quijano-Roy, Susana $u Assistance 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.
- 700 1_
- $a Carlier, Robert-Yves $u Department of Radiology, Neurolocomotor Division, Raymond Poincaré Hospital, University Hospitals Paris-Ile-de-France West, Public Hospital Network of Paris, Garches, France.
- 700 1_
- $a van Engelen, Baziel G M $u Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
- 700 1_
- $a Vissing, John $u Copenhagen Neuromuscular Center, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark.
- 700 1_
- $a Straub, Volker $u The John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK.
- 700 1_
- $a Bönnemann, Carsten G $u National Institute of Neurological Disorders and Stroke, NIH, Bethesda, Maryland, USA.
- 700 1_
- $a Mercuri, Eugenio $u Neuropsichiatria Infantile, Università Cattolica del Sacro Cuore, Rome, Italy.
- 700 1_
- $a Muntoni, Francesco $u Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health, London, UK.
- 700 1_
- $a Pegoraro, Elena $u Department of Neuroscience, University of Padova, Padova, Italy.
- 700 1_
- $a Bertini, Enrico $u Unit of Neuromuscular and Neurodegenerative Diseases, Department of Neurosciences, Bambino Gesù Children's Hospital, Rome, Italy.
- 700 1_
- $a Udd, Bjarne $u Department of Neurology, Neuromuscular Research Center, Tampere University and University Hospital, Rome, Italy. Folkhälsan Institute of Genetics and the Department of Medical Genetics, University of Helsinki, Helsinki, Finland. Department of Neurology, Vaasa Central Hospital, Vaasa, Finland.
- 700 1_
- $a Ricci, Enzo $u Istituto di Neurologia, Università Cattolica del Sacro Cuore, Fondazione Policlinico Universitario 'A Gemelli', Rome, Italy.
- 700 1_
- $a Bruno, Claudio $u Center of Translational Myology and Neurodegenerative Diseases, Istituto Giannina Gaslini, Genova, Italy.
- 773 0_
- $w MED00010064 $t Journal of neurology, neurosurgery and psychiatry $x 1468-330X $g Roč. 89, č. 1 (2018), s. 72-77
- 856 41
- $u https://pubmed.ncbi.nlm.nih.gov/28889091 $y Pubmed
- 910 __
- $a ABA008 $b sig $c sign $y a $z 0
- 990 __
- $a 20180404 $b ABA008
- 991 __
- $a 20180417155808 $b ABA008
- 999 __
- $a ok $b bmc $g 1287830 $s 1007157
- BAS __
- $a 3
- BAS __
- $a PreBMC
- BMC __
- $a 2018 $b 89 $c 1 $d 72-77 $e 20170909 $i 1468-330X $m Journal of neurology, neurosurgery and psychiatry $n J Neurol Neurosurg Psychiatry $x MED00010064
- LZP __
- $a Pubmed-20180404
