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J Neurol Neurosurg Psychiatry. 2018 Jan;89(1):72-77. doi: 10.1136/jnnp-2017-316736. Epub 2017 Sep 9.

MRI in sarcoglycanopathies: a large international cohort study.

Author information

1
Istituto di Neurologia, Università Cattolica del Sacro Cuore, Fondazione Policlinico Universitario 'A Gemelli', Rome, Italy.
2
Department of Neurology, Neuromuscular Disorders Unit, Universitat Autonoma de Barcelona, Hospital de la Santa Creu I Sant Pau, Barcelona, Spain.
3
Muscular and Neurodegenerative Disease, Centro de Investigación Biomédica en Red en Enfermedades Raras, Barcelona, Spain.
4
Center of Translational Myology and Neurodegenerative Diseases, Istituto Giannina Gaslini, Genova, Italy.
5
Department of Neuroscience, University of Padova, Padova, Italy.
6
Unit of Neuromuscular and Neurodegenerative Diseases, Department of Neurosciences, Bambino Gesù Children's Hospital, Rome, Italy.
7
Department of Neuroradiology, National Neurological Institute C Mondino, Pavia, Italy.
8
Child Neurology and Psychiatry Unit, National Neurological Institute C Mondino, Pavia, Italy.
9
UO Neuroimmunologia e Malattie Neuromuscolari, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
10
UO Neuroradiologia, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
11
Servizio di Diagnostica per Immagini, Centro Diagnostico Italiano, Milan, Italy.
12
Copenhagen Neuromuscular Center, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark.
13
The John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK.
14
Department of Pediatric Neurology, Hospital Universitari Vall d'Hebron, Barcelona, Spain.
15
Department of Radiology, Hospital Universitari Vall d'Hebron, Barcelona, Spain.
16
Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health, London, UK.
17
Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
18
National Institute of Neurological Disorders and Stroke, NIH, Bethesda, Maryland, USA.
19
Russian Children Neuromuscular Center, Veltischev Scientific Research Clinical Institute of Pediatrics, Pirogov Russian National Research Medical University, Moscow, Russia.
20
Department of Paediatric Neurology, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic.
21
Radiology Unit, Istituto Giannina Gaslini, Genova, Italy.
22
Friedrich-Baur-Institute, Department of Neurology, Ludwig-Maximilians-University of Munich, Munich, Germany.
23
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.
24
Department of Radiology, Neurolocomotor Division, Raymond Poincaré Hospital, University Hospitals Paris-Ile-de-France West, Public Hospital Network of Paris, Garches, France.
25
Neuropsichiatria Infantile, Università Cattolica del Sacro Cuore, Rome, Italy.
26
Department of Neurology, Neuromuscular Research Center, Tampere University and University Hospital, Rome, Italy.
27
Folkhälsan Institute of Genetics and the Department of Medical Genetics, University of Helsinki, Helsinki, Finland.
28
Department of Neurology, Vaasa Central Hospital, Vaasa, Finland.

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.

PMID:
28889091
DOI:
10.1136/jnnp-2017-316736
[Indexed for MEDLINE]

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