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'Dusty core disease' (DuCD): expanding morphological spectrum of RYR1 recessive myopathies

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dc.contributor.author Garibaldi, Matteo
dc.contributor.author Rendu, John
dc.contributor.author Brocard, Julie
dc.contributor.author Lacene, Emmanuelle
dc.contributor.author Fauré, Julien
dc.contributor.author Brochier, Guy
dc.contributor.author Beuvin, Maud
dc.contributor.author Labasse, Clemence
dc.contributor.author Madelaine, Angeline
dc.contributor.author Malfatti, Edoardo
dc.contributor.author Bevilacqua, Jorge Alfredo
dc.contributor.author Lubieniecki, Fabiana
dc.contributor.author Monges, Soledad
dc.contributor.author Taratuto, Ana Lía
dc.contributor.author Laporte, Jocelyn
dc.contributor.author Marty, Isabelle
dc.contributor.author Antonini, Giovanni
dc.contributor.author Romero, Norma Beatriz
dc.date.accessioned 2020-01-02T13:15:21Z
dc.date.available 2020-01-02T13:15:21Z
dc.date.issued 2019-01-05
dc.identifier.citation Garibaldi M, Rendu J, Brocard J, et al. ‘Dusty core disease’ (DuCD): expanding morphological spectrum of RYR1 recessive myopathies. acta neuropathol commun. 2019;7(1):3. doi:10.1186/s40478-018-0655-5. en_US
dc.identifier.issn 2051-5960
dc.identifier.uri https://repositorio.fleni.org.ar/handle/123456789/144
dc.identifier.uri https://doi.org/10.1186/s40478-018-0655-5
dc.description.abstract Several morphological phenotypes have been associated to RYR1-recessive myopathies. We recharacterized the RYR1-recessive morphological spectrum by a large monocentric study performed on 54 muscle biopsies from a large cohort of 48 genetically confirmed patients, using histoenzymology, immunohistochemistry, and ultrastructural studies. We also analysed the level of RyR1 expression in patients' muscle biopsies. We defined "dusty cores" the irregular areas of myofibrillar disorganisation characterised by a reddish-purple granular material deposition with uneven oxidative stain and devoid of ATPase activity, which represent the characteristic lesion in muscle biopsy in 54% of patients. We named Dusty Core Disease (DuCD) the corresponding entity of congenital myopathy. Dusty cores had peculiar histological and ultrastructural characteristics compared to the other core diseases. DuCD muscle biopsies also showed nuclear centralization and type1 fibre predominance. Dusty cores were not observed in other core myopathies and centronuclear myopathies. The other morphological groups in our cohort of patients were: Central Core (CCD: 21%), Core-Rod (C&R:15%) and Type1 predominance "plus" (T1P+:10%). DuCD group was associated to an earlier disease onset, a more severe clinical phenotype and a lowest level of RyR1 expression in muscle, compared to the other groups. Variants located in the bridge solenoid and the pore domains were more frequent in DuCD patients. In conclusion, DuCD is the most frequent histopathological presentation of RYR1-recessive myopathies. Dusty cores represent the unifying morphological lesion among the DuCD pathology spectrum and are the morphological hallmark for the recessive form of disease. en_US
dc.language.iso eng en_US
dc.publisher BioMed Central en_US
dc.rights info:eu-repo/semantics/openAccess
dc.rights.uri https://creativecommons.org/licenses/by/2.5/ar/
dc.subject Genetic Association Studies
dc.subject Estudios de Asociación Genética
dc.subject Neuromuscular Diseases
dc.subject Enfermedades Neuromusculares
dc.subject Myopathy, Central Core en_US
dc.subject Miopatía del Núcleo Central en_US
dc.subject Genes, Recessive en_US
dc.subject Genes Recesivos en_US
dc.subject Myopathies, Structural, Congenital en_US
dc.subject Miopatías Estructurales Congénitas en_US
dc.subject Dusty Core Disease en_US
dc.subject RYR1 recessive en_US
dc.subject Ryanodine Receptor Calcium Release Channel en_US
dc.subject Canal Liberador de Calcio Receptor de Rianodina en_US
dc.title 'Dusty core disease' (DuCD): expanding morphological spectrum of RYR1 recessive myopathies en_US
dc.type info:eu-repo/semantics/publishedVersion
dc.type info:eu-repo/semantics/article en_US
dc.description.fil Fil: Garibaldi, Matteo. Groupe Hospitalier Universitaire La Pitié-Salpêtrière. Myology Institute. Neuromuscular Morphology Unit; Francia. SAPIENZA University of Rome. Faculty of Medicine and Psychology. Department of Neurology Mental Health and Sensory Organs (NESMOS). Unit of Neuromuscular Diseases; Italia. Sant'Andrea Hospital; Italia.
dc.description.fil Fil: Rendu, John. Centre Hospitalier Universitaire de Grenoble Alpes, Biochimie Génétique et Moléculaire, Grenoble; Francia. Grenoble Institut des Neurosciences; Francia.
dc.description.fil Fil: Brocard, Julie. Grenoble Institut des Neurosciences; Francia.
dc.description.fil Fil: Lacene, Emmanuelle. Groupe Hospitalier Universitaire La Pitié-Salpêtrière. Myology Institute. Neuromuscular Morphology Unit; Francia.
dc.description.fil Fil: Fauré, Julien. Centre Hospitalier Universitaire de Grenoble Alpes, Biochimie Génétique et Moléculaire, Grenoble; Francia. Grenoble Institut des Neurosciences; Francia.
dc.description.fil Fil: Brochier, Guy. Groupe Hospitalier Universitaire La Pitié-Salpêtrière. Myology Institute. Neuromuscular Morphology Unit; Francia.
dc.description.fil Fil: Beuvin, Maud. Centre de Référence Maladies Neuromusculaire Paris-Est-Ile de France; Francia. Sorbonne Universités UPMC Univ. Institut de Myologie. Center of Research in Myology; Francia. Groupe Hospitalier Pitié-Salpêtrière; Francia.
dc.description.fil Fil: Labasse, Clemence. Groupe Hospitalier Universitaire La Pitié-Salpêtrière. Myology Institute. Neuromuscular Morphology Unit; Francia.
dc.description.fil Fil: Madelaine, Angeline. Groupe Hospitalier Universitaire La Pitié-Salpêtrière. Myology Institute. Neuromuscular Morphology Unit; Francia.
dc.description.fil Fil: Malfatti, Edoardo. CHU Raymond-Poincaré Paris Ouest. Centre de Référence Maladies Neuromusculaire Paris-Est-Ile de France. Service Neurologie Médicale; Francia. Université Versailles-Saint-Quentin-en-Yvelines. U1179 UVSQ-INSERM Handicap Neuromusculaire: Physiologie, Biothérapie et Pharmacologie appliquées, UFR des sciences de la santé Simone Veil; Francia.
dc.description.fil Fil: Bevilacqua, Jorge Alfredo. University of Chile Clinical Hospital. Department of Neurology and Neurosurgery. Neuromuscular Unit; Chile. University of Chile. Faculty of Medicine. Department of Anatomy and Legal Medicine; Chile.
dc.description.fil Fil: Lubieniecki, Fabiana. Hospital de Pediatría Garrahan. Servicio de Neurología y Servicio de Patologia; Argentina.
dc.description.fil Fil: Monges, Soledad. Hospital de Pediatría Garrahan. Servicio de Neurología y Servicio de Patologia; Argentina.
dc.description.fil Fil: Taratuto, Ana Lía. Fleni. Departamento de Neuropatología y Biología Molecular; Argentina.
dc.description.fil Fil: Laporte, Jocelyn. Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC); Francia. INSERM U1258; Francia. CNRS, UMR7104; Francia. Université de Strasbourg; Francia.
dc.description.fil Fil: Marty, Isabelle. Grenoble Institut des Neurosciences; Francia.
dc.description.fil Fil: Antonini, Giovanni. SAPIENZA University of Rome. Faculty of Medicine and Psychology. Department of Neurology Mental Health and Sensory Organs (NESMOS). Unit of Neuromuscular Diseases; Italia. Sant'Andrea Hospital; Italia.
dc.description.fil Fil: Romero, Norma Beatriz. Groupement Hospitalier Universitaire Pitié-Salpêtrière. Myology Institute, Morphology Unit; Francia. Centre de Référence Maladies Neuromusculaire Paris-Est-Ile de France; Francia. Sorbonne Universités UPMC Univ. Institut de Myologie. Center of Research in Myology; Francia.
dc.relation.ispartofVOLUME 7
dc.relation.ispartofNUMBER 1
dc.relation.ispartofPAGINATION 3
dc.relation.ispartofCOUNTRY Reino Unido
dc.relation.ispartofCITY Londres
dc.relation.ispartofTITLE Acta neuropathologica communications
dc.relation.ispartofISSN 2051-5960
dc.type.snrd info:ar-repo/semantics/artículo es_ES


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