David GóMez-Andrés1, Jordi Díaz-Manera2, Aida Alejaldre2, Irene Pulido-Valdeolivas3, Laura GonzáLez-Mera4,5, Montse Olivé5, Juan José Vilchez6, Adolfo LóPez De Munain6,7, Carmen Paradas8, Nuria Muelas6, Ángel SáNchez-MontáÑez9, Alicia Alonso-Jimenez2, Marta Gómez García De la Banda10, Ivana Dabaj10, Gisèle Bonne11, Francina Munell1, Robert Y Carlier12, Susana Quijano-Roy13. 1. Neuromuscular Disorders Group, Child Neurology Unit, Hospital Universitari Vall d'Hebron, Vall d'Hebron Research Institute, Passeig de la Vall d'Hebron 119-129, 08035, Barcelona, Spain. 2. Neuromuscular Disorders Unit, Neurology Department, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, CIBERER, Barcelona, Spain. 3. Center of Neuroimmunology, Institut d'Investigacions Biomèdiques August Pi i Sunyer, Hospital Clínic, Barcelona, Spain. 4. Department of Neurology, Hospital de Viladecans, Barcelona, Spain. 5. Institute of Neuropathology, Department of Pathology and Neuromuscular Unit, Department of Neurology, IDIBELL-Hospital de Bellvitge, Hospitalet de Llobregat, Barcelona, Spain. 6. Department of Neurology, Hospital Universitario Donostia, Neuroscience Area, Biodonostia Institute, CIBERER, Donostia-San Sebastián, Spain. 7. Neurosciences Area, Biodonostia Institute, CIBERNED, Donostia-San Sebastián, Spain. 8. Neuromuscular Disorders Unit, Department of Neurology and Neurophysiology, Hospital Universitario Virgen del Rocío, Sevilla, Spain. 9. Pediatric Radiology Department, Hospital Universitari Vall d'Hebron, Barcelona, Spain. 10. APHP, Neuromuscular Disorders Unit, Pediatric Department, CHU Paris IdF Ouest - Hôpital Raymond Poincaré, Garches, France. 11. Sorbonne Université, INSERM UMRS974, Center for Research in Myology, Institut de Myologie, G. H. Pitié Salpêtrière, Paris, France. 12. APHP, Radiology Department, CHU Paris IdF Ouest - Hôpital Raymond Poincaré. Paris Saclay Universities, UVSQ University of Versailles, UMR 1179 INSERM Garches, France. 13. APHP, Neuromuscular Disorders Unit, Pediatric Department, CHU Paris IdF Ouest - Hôpital Raymond Poincaré, Paris Saclay Universities, UVSQ University of Versailles, UMR 1179 INSERM, Garches, France.
Abstract
INTRODUCTION: Particular fibroadipose infiltration patterns have been recently described by muscle imaging in congenital and later onset forms of LMNA-related muscular dystrophies (LMNA-RD). METHODS: Scores for fibroadipose infiltration of 23 lower limb muscles in 34 patients with LMNA-RD were collected from heat maps of 2 previous studies. Scoring systems were homogenized. Relationships between muscle infiltration and disease duration and age of onset were modeled with random forests. RESULTS: The pattern of infiltration differs according to disease duration but not to age of disease onset. The muscles whose progression best predicts disease duration were semitendinosus, biceps femoris long head, gluteus medius, and semimembranosus. DISCUSSION: In LMNA-RD, our synthetic analysis of lower limb muscle infiltration did not find major differences between forms with different ages of onset but allowed the identification of muscles with characteristic infiltration during disease progression. Monitoring of these specific muscles by quantitative MRI may provide useful imaging biomarkers in LMNA-RD. Muscle Nerve 58:812-817, 2018.
INTRODUCTION: Particular fibroadipose infiltration patterns have been recently described by muscle imaging in congenital and later onset forms of LMNA-related muscular dystrophies (LMNA-RD). METHODS: Scores for fibroadipose infiltration of 23 lower limb muscles in 34 patients with LMNA-RD were collected from heat maps of 2 previous studies. Scoring systems were homogenized. Relationships between muscle infiltration and disease duration and age of onset were modeled with random forests. RESULTS: The pattern of infiltration differs according to disease duration but not to age of disease onset. The muscles whose progression best predicts disease duration were semitendinosus, biceps femoris long head, gluteus medius, and semimembranosus. DISCUSSION: In LMNA-RD, our synthetic analysis of lower limb muscle infiltration did not find major differences between forms with different ages of onset but allowed the identification of muscles with characteristic infiltration during disease progression. Monitoring of these specific muscles by quantitative MRI may provide useful imaging biomarkers in LMNA-RD. Muscle Nerve 58:812-817, 2018.
Authors: Ana Cotta; Julia F Paim; Elmano Carvalho; Jaquelin Valicek; Antonio L da Cunha Junior; Monica M Navarro; Antonio P Vargas; Maria I Lima; Camila F de Almeida; Reinaldo I Takata; Mariz Vainzof Journal: J Mol Neurosci Date: 2019-08-13 Impact factor: 3.444
Authors: Kenneth A Weber; Andrew C Smith; Marie Wasielewski; Kamran Eghtesad; Pranav A Upadhyayula; Max Wintermark; Trevor J Hastie; Todd B Parrish; Sean Mackey; James M Elliott Journal: Sci Rep Date: 2019-05-28 Impact factor: 4.379