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Lookup NU author(s): Professor Giorgio TascaORCiD, Dr Jana Haberlova, Professor Volker StraubORCiD, Professor Chiara Marini Bettolo, Professor Jordi Diaz ManeraORCiD
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© 2019, Springer-Verlag GmbH Germany, part of Springer Nature.Background: Limb girdle muscular dystrophy type R1/2A (LGMDR1/LGMD2A) is a progressive myopathy caused by deficiency of calpain 3, a calcium-dependent cysteine protease of skeletal muscle, and it represents the most frequent type of LGMD worldwide. In the last few years, muscle magnetic resonance imaging (MRI) has been proposed as a tool for identifying patterns of muscular involvement in genetic disorders and as a biomarker of disease progression in muscle diseases. In this study, 57 molecularly confirmed LGMDR1 patients from a European cohort (age range 7–78 years) underwent muscle MRI and a global evaluation of functional status (Gardner-Medwin and Walton score and ability to raise the arms). Results: We confirmed a specific pattern of fatty substitution involving predominantly the hip adductors and hamstrings in lower limbs. Spine extensors were more severely affected than spine rotators, in agreement with higher incidence of lordosis than scoliosis in LGMDR1. Hierarchical clustering of lower limb MRI scores showed that involvement of anterior thigh muscles discriminates between classes of disease progression. Severity of muscle fatty substitution was significantly correlated with CAPN3 mutations: in particular, patients with no or one “null” alleles showed a milder involvement, compared to patients with two null alleles (i.e., predicting absence of calpain-3 protein). Expectedly, fat infiltration scores strongly correlated with functional measures. The “pseudocollagen” sign (central areas of sparing in some muscle) was associated with longer and more severe disease course. Conclusions: We conclude that skeletal muscle MRI represents a useful tool in the diagnostic workup and clinical management of LGMDR1.
Author(s): Barp A, Laforet P, Bello L, Tasca G, Vissing J, Monforte M, Ricci E, Choumert A, Stojkovic T, Malfatti E, Pegoraro E, Semplicini C, Stramare R, Scheidegger O, Haberlova J, Straub V, Marini-Bettolo C, Lokken N, Diaz-Manera J, Urtizberea JA, Mercuri E, Kyncl M, Walter MC, Carlier RY
Publication type: Article
Publication status: Published
Journal: Journal of Neurology
Year: 2020
Volume: 267
Issue: 1
Pages: 45-56
Online publication date: 25/09/2019
Acceptance date: 10/09/2019
ISSN (print): 0340-5354
ISSN (electronic): 1432-1459
Publisher: Springer
URL: https://doi.org/10.1007/s00415-019-09539-y
DOI: 10.1007/s00415-019-09539-y
PubMed id: 31555977
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