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285 results on '"Pini, Antonella"'

1. SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation

Author

Nashabat, Marwan, Nabavizadeh, Nasrinsadat, Saraçoğlu, Hilal Pırıl, Sarıbaş, Burak, Avcı, Şahin, Börklü, Esra, Beillard, Emmanuel, Yılmaz, Elanur, Uygur, Seyide Ecesu, Kayhan, Cavit Kerem, Bosco, Luca, Eren, Zeynep Bengi, Steindl, Katharina, Richter, Manuela Friederike, Bademci, Guney, Rauch, Anita, Fattahi, Zohreh, Valentino, Maria Lucia, Connolly, Anne M., Bahr, Angela, Viola, Laura, Bergmann, Anke Katharina, Rocha, Maria Eugenia, Peart, LeShon, Castro-Rojas, Derly Liseth, Bültmann, Eva, Khan, Suliman, Giarrana, Miriam Liliana, Teleanu, Raluca Ioana, Gonzalez, Joanna Michelle, Pini, Antonella, Schädlich, Ines Sophie, Vill, Katharina, Brugger, Melanie, Zuchner, Stephan, Pinto, Andreia, Donkervoort, Sandra, Bivona, Stephanie Ann, Riza, Anca, Streata, Ioana, Gläser, Dieter, Baquero-Montoya, Carolina, Garcia-Restrepo, Natalia, Kotzaeridou, Urania, Brunet, Theresa, Epure, Diana Anamaria, Bertoli-Avella, Aida, Kariminejad, Ariana, Tekin, Mustafa, von Hardenberg, Sandra, Bönnemann, Carsten G., Stettner, Georg M., Zanni, Ginevra, Kayserili, Hülya, Oflazer, Zehra Piraye, and Escande-Beillard, Nathalie

Published
2024
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2. Genetic modifiers of upper limb function in Duchenne muscular dystrophy.

Author

Sabbatini, Daniele, Fusto, Aurora, Vianello, Sara, Villa, Matteo, Janik, Joanna, DAngelo, Grazia, Diella, Eleonora, Magri, Francesca, Comi, Giacomo, Panicucci, Chiara, Bruno, Claudio, DAmico, Adele, Bertini, Enrico, Astrea, Guja, Battini, Roberta, Politano, Luisa, Masson, Riccardo, Baranello, Giovanni, Previtali, Stefano, Messina, Sonia, Vita, Gianluca, Berardinelli, Angela, Mongini, Tiziana, Pini, Antonella, Pane, Marika, Mercuri, Eugenio, Hoffman, Eric, Morgenroth, Lauren, Gordish-Dressman, Heather, Duong, Tina, Bello, Luca, Pegoraro, Elena, and McDonald, Craig

Subjects
CD40, Duchenne muscular dystrophy, Genetic modifiers, SPP1–osteopontin, Upper limb function, Actinin, Cohort Studies, Genotype, Humans, Muscular Dystrophy, Duchenne, Quality of Life, Upper Extremity
Abstract

Genetic modifiers of Duchenne muscular dystrophy (DMD) are variants located in genes different from the disease-causing gene DMD, but associated with differences in disease onset, progression, or response to treatment. Modifiers described so far have been tested mainly for associations with ambulatory function, while their effect on upper limb function, which is especially relevant for quality of life and independence in non-ambulatory patients, is unknown. We tested genotypes at several known modifier loci (SPP1, LTBP4, CD40, ACTN3) for association with Performance Upper Limb version 1.2 score in an Italian multicenter cohort, and with Brooke scale score in the Cooperative International Neuromuscular Group Duchenne Natural History Study (CINRG-DNHS), using generalized estimating equation (GEE) models of longitudinally collected data, with age and glucocorticoid treatment as covariates. CD40 rs1883832, previously linked to earlier loss of ambulation, emerged as a modifier of upper limb function, negatively affecting shoulder and distal domains of PUL (p = 0.023 and 0.018, respectively) in the Italian cohort, as well as of Brooke score (p = 0.018) in the CINRG-DNHS. These findings will be useful for the design and interpretation of clinical trials in DMD, especially for non-ambulatory populations.

Published
2022

3. Further delineation of BCAP31-linked intellectual disability: description of 17 new families with LoF and missense variants

Author

Whalen, Sandra, Shaw, Marie, Mignot, Cyril, Héron, Delphine, Bastaraud, Sandra Chantot, Walti, Cecile Cieuta, Liebelt, Jan, Elmslie, Frances, Yap, Patrick, Hurst, Jane, Forsythe, Elisabeth, Kirmse, Brian, Ozmore, Jillian, Spinelli, Alessandro Mauro, Calabrese, Olga, de Villemeur, Thierry Billette, Tabet, Anne Claude, Levy, Jonathan, Guet, Agnes, Kossorotoff, Manoëlle, Kamien, Benjamin, Morton, Jenny, McCabe, Anne, Brischoux-Boucher, Elise, Raas-Rothschild, Annick, Pini, Antonella, Carroll, Renée, Hartley, Jessica N, Frosk, Patrick, Slavotinek, Anne, Truxal, Kristen, Jennifer, Carroll, Dheedene, Annelies, Cui, Hong, Kumar, Vishal, Thomson, Glen, Riccardi, Florence, Gecz, Jozef, and Villard, Laurent

Subjects
Biological Sciences, Genetics, Rare Diseases, Digestive Diseases, Liver Disease, Brain Disorders, Clinical Research, Neurosciences, Aetiology, 2.1 Biological and endogenous factors, Adolescent, Adult, Child, Child, Preschool, Deafness, Female, Hereditary Central Nervous System Demyelinating Diseases, Humans, Intellectual Disability, Loss of Function Mutation, Male, Membrane Proteins, Mutation, Missense, Pedigree, Phenotype, Syndrome, Care4Rare Canada Consortium, Clinical Sciences, Genetics & Heredity, Clinical sciences
Abstract

The BCAP31 gene, located at Xq28, encodes BAP31, which plays a role in ER-to-Golgi anterograde transport. To date, BCAP31 pathogenic variants have been reported in 12 male cases from seven families (six loss of function (LoF) and one missense). Patients had severe intellectual disability (ID), dystonia, deafness, and central hypomyelination, delineating a so-called deafness, dystonia and cerebral hypomyelination syndrome (DDCH). Female carriers are mostly asymptomatic but may present with deafness. BCAP31 is flanked by the SLC6A8 and ABCD1 genes. Contiguous deletions of BCAP31 and ABCD1 and/or SLC6A8 have been described in 12 patients. Patients with deletions including BCAP31 and SLC6A8 have the same phenotype as BCAP31 patients. Patients with deletions of BCAP31 and ABCD1 have contiguous ABCD1 and DXS1375E/BCAP31 deletion syndrome (CADDS), and demonstrate a more severe neurological phenotype with cholestatic liver disease and early death. We report 17 novel families, 14 with intragenic BCAP31 variants (LoF and missense) and three with a deletion of BCAP31 and adjacent genes (comprising two CADDS patients, one male and one symptomatic female). Our study confirms the phenotype reported in males with intragenic LoF variants and shows that males with missense variants exhibit a milder phenotype. Most patients with a LoF pathogenic BCAP31 variant have permanent or transient liver enzyme elevation. We further demonstrate that carrier females (n = 10) may have a phenotype comprising LD, ID, and/or deafness. The male with CADDS had a severe neurological phenotype, but no cholestatic liver disease, and the symptomatic female had moderate ID and cholestatic liver disease.

Published
2021

4. Gain and loss of upper limb abilities in Duchenne muscular dystrophy patients: A 24-month study

Author

Coratti, Giorgia, Pane, Marika, Brogna, Claudia, D'Amico, Adele, Pegoraro, Elena, Bello, Luca, Sansone, Valeria A., Albamonte, Emilio, Ferraroli, Elisabetta, Mazzone, Elena Stacy, Fanelli, Lavinia, Messina, Sonia, Sframeli, Maria, Catteruccia, Michela, Cicala, Gianpaolo, Capasso, Anna, Ricci, Martina, Frosini, Silvia, De Luca, Giacomo, Rolle, Enrica, De Sanctis, Roberto, Forcina, Nicola, Norcia, Giulia, Passamano, Luigia, Scutifero, Marianna, Gardani, Alice, Pini, Antonella, Monaco, Giulia, D'Angelo, Maria Grazia, Leone, Daniela, Zanin, Riccardo, Vita, Gian Luca, Panicucci, Chiara, Bruno, Claudio, Mongini, Tiziana, Ricci, Federica, Berardinelli, Angela, Battini, Roberta, Masson, Riccardo, Baranello, Giovanni, Dosi, Claudia, Bertini, Enrico, Nigro, Vincenzo, Politano, Luisa, and Mercuri, Eugenio

Published
2024
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5. Genetic modifiers of respiratory function in Duchenne muscular dystrophy.

Author

Bello, Luca, DAngelo, Grazia, Villa, Matteo, Fusto, Aurora, Vianello, Sara, Merlo, Beatrice, Sabbatini, Daniele, Barp, Andrea, Gandossini, Sandra, Magri, Francesca, Comi, Giacomo, Pedemonte, Marina, Tacchetti, Paola, Lanzillotta, Valentina, Trucco, Federica, DAmico, Adele, Bertini, Enrico, Astrea, Guja, Politano, Luisa, Masson, Riccardo, Baranello, Giovanni, Albamonte, Emilio, De Mattia, Elisa, Rao, Fabrizio, Sansone, Valeria, Previtali, Stefano, Messina, Sonia, Vita, Gian, Berardinelli, Angela, Mongini, Tiziana, Pini, Antonella, Pane, Marika, Mercuri, Eugenio, Vianello, Andrea, Bruno, Claudio, Hoffman, Eric, Morgenroth, Lauren, Gordish-Dressman, Heather, Pegoraro, Elena, and McDonald, Craig

Subjects
Adolescent, Adult, CD40 Antigens, Child, Child, Preschool, Dystrophin, Follow-Up Studies, Glucocorticoids, Humans, Male, Muscular Dystrophy, Duchenne, Osteopontin, Respiratory Function Tests, Respiratory Insufficiency, Retrospective Studies, Vital Capacity, Young Adult
Abstract

OBJECTIVE: Respiratory insufficiency is a major complication of Duchenne muscular dystrophy (DMD). Its progression shows considerable interindividual variability, which has been less thoroughly characterized and understood than in skeletal muscle. We collected pulmonary function testing (PFT) data from a large retrospective cohort followed at Centers collaborating in the Italian DMD Network. Furthermore, we analyzed PFT associations with different DMD mutation types, and with genetic variants in SPP1, LTBP4, CD40, and ACTN3, known to modify skeletal muscle weakness in DMD. Genetic association findings were independently validated in the Cooperative International Neuromuscular Research Group Duchenne Natural History Study (CINRG-DNHS). METHODS AND RESULTS: Generalized estimating equation analysis of 1852 PFTs from 327 Italian DMD patients, over an average follow-up time of 4.5 years, estimated that forced vital capacity (FVC) declined yearly by -4.2%, forced expiratory volume in 1 sec by -5.0%, and peak expiratory flow (PEF) by -2.9%. Glucocorticoid (GC) treatment was associated with higher values of all PFT measures (approximately + 15% across disease stages). Mutations situated 3 of DMD intron 44, thus predicted to alter the expression of short dystrophin isoforms, were associated with lower (approximately -6%) PFT values, a finding independently validated in the CINRG-DNHS. Deletions amenable to skipping of exon 51 and 53 were independently associated with worse PFT outcomes. A meta-analysis of the two cohorts identified detrimental effects of SPP1 rs28357094 and CD40 rs1883832 minor alleles on both FVC and PEF. INTERPRETATION: These findings support GC efficacy in delaying respiratory insufficiency, and will be useful for the design and interpretation of clinical trials focused on respiratory endpoints in DMD.

Published
2020

6. Onasemnogene abeparvovec in spinal muscular atrophy: predictors of efficacy and safety in naïve patients with spinal muscular atrophy and following switch from other therapies

Author

Pera, Maria Carmela, Bravetti, Chiara, Piastra, Marco, Genovese, Orazio, Cicala, Gianpaolo, Forcina, Nicola, Carnicella, Sara, Stanca, Giulia, Sacchini, Michele, Catteruccia, Michela, Tosi, Michele, Cutrera, Renato, Cherchi, Claudio, Chiarini, Maria Beatrice, Salmin, Francesca, Pedemonte, Marina, Govoni, Alessandra, Mizzoni, Irene, Morando, Simone, Zanin, Riccardo, Rolle, Enrica, Salomon, Eleonora, Giannotta, Melania, Scarpini, Gaia, Toscano, Antonio, Gitto, Eloisa, Materia, Roberto, D’Alessandro, Rossella, Pane, Marika, Berti, Beatrice, Capasso, Anna, Coratti, Giorgia, Varone, Antonio, D’Amico, Adele, Messina, Sonia, Masson, Riccardo, Sansone, Valeria Ada, Donati, Maria Alice, Agosto, Caterina, Bruno, Claudio, Ricci, Federica, Pini, Antonella, Gagliardi, Delio, Filosto, Massimiliano, Corti, Stefania, Leone, Daniela, Palermo, Concetta, Onesimo, Roberta, De Sanctis, Roberto, Ricci, Martina, Bitetti, Ilaria, Sframeli, Maria, Dosi, Claudia, Albamonte, Emilio, Ticci, Chiara, Brolatti, Noemi, Bertini, Enrico, Finkel, Richard, and Mercuri, Eugenio

Published
2023
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7. Expanding the clinical-pathological and genetic spectrum of RYR1-related congenital myopathies with cores and minicores: an Italian population study

Author

Fusto, Aurora, Cassandrini, Denise, Fiorillo, Chiara, Codemo, Valentina, Astrea, Guja, D’Amico, Adele, Maggi, Lorenzo, Magri, Francesca, Pane, Marika, Tasca, Giorgio, Sabbatini, Daniele, Bello, Luca, Battini, Roberta, Bernasconi, Pia, Fattori, Fabiana, Bertini, Enrico Silvio, Comi, Giacomo, Messina, Sonia, Mongini, Tiziana, Moroni, Isabella, Panicucci, Chiara, Berardinelli, Angela, Donati, Alice, Nigro, Vincenzo, Pini, Antonella, Giannotta, Melania, Dosi, Claudia, Ricci, Enzo, Mercuri, Eugenio, Minervini, Giovanni, Tosatto, Silvio, Santorelli, Filippo, Bruno, Claudio, and Pegoraro, Elena

Published
2022
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8. Correction to: Monoallelic KIF1A-related disorders: a multicenter cross sectional study and systematic literature review

Author

Della Vecchia, Stefania, Tessa, Alessandra, Dosi, Claudia, Baldacci, Jacopo, Pasquariello, Rosa, Antenora, Antonella, Astrea, Guja, Bassi, Maria Teresa, Battini, Roberta, Casali, Carlo, Ciof, Ettore, Conti, Greta, De Michele, Giovanna, Ferrari, Anna Rita, Filla, Alessandro, Fiorillo, Chiara, Fusco, Carlo, Gallone, Salvatore, Germiniasi, Chiara, Guerrini, Renzo, Haggiag, Shalom, Lopergolo, Diego, Martinuzzi, Andrea, Melani, Federico, Mignarri, Andrea, Panzeri, Elena, Pini, Antonella, Pinto, Anna Maria, Pochiero, Francesca, Primiano, Guido, Procopio, Elena, Renieri, Alessandra, Romaniello, Romina, Sancricca, Cristina, Servidei, Serenella, Spagnoli, Carlotta, Ticci, Chiara, Rubegni, Anna, and Santorelli, Filippo Maria

Published
2023
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9. Monoallelic KIF1A-related disorders: a multicenter cross sectional study and systematic literature review

Author

Vecchia, Stefania Della, Tessa, Alessandra, Dosi, Claudia, Baldacci, Jacopo, Pasquariello, Rosa, Antenora, Antonella, Astrea, Guja, Bassi, Maria Teresa, Battini, Roberta, Casali, Carlo, Cioffi, Ettore, Conti, Greta, De Michele, Giovanna, Ferrari, Anna Rita, Filla, Alessandro, Fiorillo, Chiara, Fusco, Carlo, Gallone, Salvatore, Germiniasi, Chiara, Guerrini, Renzo, Haggiag, Shalom, Lopergolo, Diego, Martinuzzi, Andrea, Melani, Federico, Mignarri, Andrea, Panzeri, Elena, Pini, Antonella, Pinto, Anna Maria, Pochiero, Francesca, Primiano, Guido, Procopio, Elena, Renieri, Alessandra, Romaniello, Romina, Sancricca, Cristina, Servidei, Serenella, Spagnoli, Carlotta, Ticci, Chiara, Rubegni, Anna, and Santorelli, Filippo Maria

Published
2022
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12. Next-generation sequencing application to investigate skeletal muscle channelopathies in a large cohort of Italian patients

Author

Brugnoni, Raffaella, Maggi, Lorenzo, Canioni, Eleonora, Verde, Federico, Gallone, Annamaria, Ariatti, Alessandra, Filosto, Massimiliano, Petrelli, Cristina, Logullo, Francesco Ottavio, Esposito, Marcello, Ruggiero, Lucia, Tonin, Paola, Riguzzi, Pietro, Pegoraro, Elena, Torri, Francesca, Ricci, Giulia, Siciliano, Gabriele, Silani, Vincenzo, Merlini, Luciano, De Pasqua, Silvia, Liguori, Rocco, Pini, Antonella, Mariotti, Caterina, Moroni, Isabella, Imbrici, Paola, Desaphy, Jean-Francois, Mantegazza, Renato, and Bernasconi, Pia

Published
2021
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15. Expanding the Clinical Spectrum ofUBTF-Related Neurodevelopmental Disorder

Author

Pietra, Andrea, primary, Palombo, Flavia, additional, Giannotta, Melania, additional, Maffei, Monica, additional, Fiorini, Claudio, additional, Costa, Roberta, additional, Cenacchi, Giovanna, additional, Carelli, Valerio, additional, Cordelli, Duccio Maria, additional, Pini, Antonella, additional, and Garone, Caterina, additional

Published
2023
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16. Correction to: Monoallelic KIF1A-related disorders: a multicenter cross sectional study and systematic literature review

Author

Della Vecchia, Stefania, Tessa, Alessandra, Dosi, Claudia, Baldacci, Jacopo, Pasquariello, Rosa, Antenora, Antonella, Astrea, Guja, Bassi, Maria Teresa, Battini, Roberta, Casali, Carlo, Cioffi, Ettore, Conti, Greta, De Michele, Giovanna, Ferrari, Anna Rita, Filla, Alessandro, Fiorillo, Chiara, Fusco, Carlo, Gallone, Salvatore, Germiniasi, Chiara, Guerrini, Renzo, Haggiag, Shalom, Lopergolo, Diego, Martinuzzi, Andrea, Melani, Federico, Mignarri, Andrea, Panzeri, Elena, Pini, Antonella, Pinto, Anna Maria, Pochiero, Francesca, Primiano, Guido, Procopio, Elena, Renieri, Alessandra, Romaniello, Romina, Sancricca, Cristina, Servidei, Serenella, Spagnoli, Carlotta, Ticci, Chiara, Rubegni, Anna, and Santorelli, Filippo Maria

Published
2022
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17. Diagnosis of Duchenne Muscular Dystrophy in Italy in the last decade: Critical issues and areas for improvements

Author

D'Amico, Adele, Catteruccia, Michela, Baranello, Giovanni, Politano, Luisa, Govoni, Alessandra, Previtali, Stefano Carlo, Pane, Marika, D'Angelo, Maria Grazia, Bruno, Claudio, Messina, Sonia, Ricci, Federica, Pegoraro, Elena, Pini, Antonella, Berardinelli, Angela, Gorni, Ksenjia, Battini, Roberta, Vita, Gianluca, Trucco, Federica, Scutifero, Marianna, Petillo, Roberta, D'Ambrosio, Paola, Ardissone, Anna, Pasanisi, Barbara, Vita, Giuseppe, Mongini, Tiziana, Moggio, Maurizio, Comi, Giacomo Pietro, Mercuri, Eugenio, and Bertini, Enrico

Published
2017
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19. Onasemnogene abeparvovec in spinal muscular atrophy: predictors of efficacy and safety in naïve patients with spinal muscular atrophy and following switch from other therapies

Author

Pane, Marika, primary, Berti, Beatrice, additional, Capasso, Anna, additional, Coratti, Giorgia, additional, Varone, Antonio, additional, D’Amico, Adele, additional, Messina, Sonia, additional, Masson, Riccardo, additional, Sansone, Valeria Ada, additional, Donati, Maria Alice, additional, Agosto, Caterina, additional, Bruno, Claudio, additional, Ricci, Federica, additional, Pini, Antonella, additional, Gagliardi, Delio, additional, Filosto, Massimiliano, additional, Corti, Stefania, additional, Leone, Daniela, additional, Palermo, Concetta, additional, Onesimo, Roberta, additional, De Sanctis, Roberto, additional, Ricci, Martina, additional, Bitetti, Ilaria, additional, Sframeli, Maria, additional, Dosi, Claudia, additional, Albamonte, Emilio, additional, Ticci, Chiara, additional, Brolatti, Noemi, additional, Bertini, Enrico, additional, Finkel, Richard, additional, Mercuri, Eugenio, additional, Pera, Maria Carmela, additional, Bravetti, Chiara, additional, Piastra, Marco, additional, Genovese, Orazio, additional, Cicala, Gianpaolo, additional, Forcina, Nicola, additional, Carnicella, Sara, additional, Stanca, Giulia, additional, Sacchini, Michele, additional, Catteruccia, Michela, additional, Tosi, Michele, additional, Cutrera, Renato, additional, Cherchi, Claudio, additional, Chiarini, Maria Beatrice, additional, Salmin, Francesca, additional, Pedemonte, Marina, additional, Govoni, Alessandra, additional, Mizzoni, Irene, additional, Morando, Simone, additional, Zanin, Riccardo, additional, Rolle, Enrica, additional, Salomon, Eleonora, additional, Giannotta, Melania, additional, Scarpini, Gaia, additional, Toscano, Antonio, additional, Gitto, Eloisa, additional, Materia, Roberto, additional, and D’Alessandro, Rossella, additional

Published
2023
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20. Longitudinal Analysis of PUL 2.0 Domains in Ambulant and Non-Ambulant Duchenne Muscular Dystrophy Patients: How do they Change in Relation to Functional Ability?

Author

Pane, Marika, primary, Coratti, Giorgia, additional, Brogna, Claudia, additional, Bovis, Francesca, additional, D’Amico, Adele, additional, Pegoraro, Elena, additional, Bello, Luca, additional, Sansone, Valeria, additional, Albamonte, Emilio, additional, Ferraroli, Elisabetta, additional, Mazzone, Elena Stacy, additional, Fanelli, Lavinia, additional, Messina, Sonia, additional, Catteruccia, Michela, additional, Cicala, Gianpaolo, additional, Ricci, Martina, additional, Frosini, Silvia, additional, De Luca, Giacomo, additional, Rolle, Enrica, additional, De Sanctis, Roberto, additional, Forcina, Nicola, additional, Norcia, Giulia, additional, Passamano, Luigia, additional, Gardani, Alice, additional, Pini, Antonella, additional, Monaco, Giulia, additional, D’Angelo, Maria Grazia, additional, Capasso, Anna, additional, Leone, Daniela, additional, Zanin, Riccardo, additional, Vita, Gian Luca, additional, Panicucci, Chiara, additional, Bruno, Claudio, additional, Mongini, Tiziana, additional, Ricci, Federica, additional, Berardinelli, Angela, additional, Battini, Roberta, additional, Masson, Riccardo, additional, Baranello, Giovanni, additional, Dosi, Claudia, additional, Bertini, Enrico, additional, Politano, Luisa, additional, and Mercuri, Eugenio, additional

Published
2023
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21. Longitudinal Analysis of PUL 2.0 Domains in Ambulant and Non-Ambulant Duchenne Muscular Dystrophy Patients: How do they Change in Relation to Functional Ability?

Author

Pane, Marika, Coratti, Giorgia, Brogna, Claudia, Bovis, Francesca, D'Amico, Adele, Pegoraro, Elena, Bello, Luca, Sansone, Valeria, Albamonte, Emilio, Ferraroli, Elisabetta, Mazzone, Elena Stacy, Fanelli, Lavinia, Messina, Sonia, Catteruccia, Michela, Cicala, Gianpaolo, Ricci, Martina, Frosini, Silvia, De Luca, Giacomo, Rolle, Enrica, De Sanctis, Roberto, Forcina, Nicola, Norcia, Giulia, Passamano, Luigia, Gardani, Alice, Pini, Antonella, Monaco, Giulia, D'Angelo, Maria Grazia, Capasso, Anna, Leone, Daniela, Zanin, Riccardo, Vita, Gian Luca, Panicucci, Chiara, Bruno, Claudio, Mongini, Tiziana, Ricci, Federica, Berardinelli, Angela, Battini, Roberta, Masson, Riccardo, Baranello, Giovanni, Dosi, Claudia, Bertini, Enrico Silvio, Politano, Luisa, Mercuri, Eugenio Maria, Pane, Marika (ORCID:0000-0002-4851-6124), Coratti, Giorgia (ORCID:0000-0001-6666-5628), Bertini, Enrico, Mercuri, Eugenio (ORCID:0000-0002-9851-5365), Pane, Marika, Coratti, Giorgia, Brogna, Claudia, Bovis, Francesca, D'Amico, Adele, Pegoraro, Elena, Bello, Luca, Sansone, Valeria, Albamonte, Emilio, Ferraroli, Elisabetta, Mazzone, Elena Stacy, Fanelli, Lavinia, Messina, Sonia, Catteruccia, Michela, Cicala, Gianpaolo, Ricci, Martina, Frosini, Silvia, De Luca, Giacomo, Rolle, Enrica, De Sanctis, Roberto, Forcina, Nicola, Norcia, Giulia, Passamano, Luigia, Gardani, Alice, Pini, Antonella, Monaco, Giulia, D'Angelo, Maria Grazia, Capasso, Anna, Leone, Daniela, Zanin, Riccardo, Vita, Gian Luca, Panicucci, Chiara, Bruno, Claudio, Mongini, Tiziana, Ricci, Federica, Berardinelli, Angela, Battini, Roberta, Masson, Riccardo, Baranello, Giovanni, Dosi, Claudia, Bertini, Enrico Silvio, Politano, Luisa, Mercuri, Eugenio Maria, Pane, Marika (ORCID:0000-0002-4851-6124), Coratti, Giorgia (ORCID:0000-0001-6666-5628), Bertini, Enrico, and Mercuri, Eugenio (ORCID:0000-0002-9851-5365)

Abstract

Background: The performance of upper limb 2.0 (PUL) is widely used to assess upper limb function in DMD patients. The aim of the study was to assess 24 month PUL changes in a large cohort of DMD patients and to establish whether domains changes occur more frequently in specific functional subgroups. Methods: The PUL was performed in 311 patients who had at least one pair of assessments at 24 months, for a total of 808 paired assessments. Ambulant patients were subdivided according to the ability to walk: >350, 250-350, ≤250 meters. Non ambulant patients were subdivided according to the time since they lost ambulation: <1, 1-2, 2-5 or >5 years. Results: At 12 months, the mean PUL 2.0 change on all the paired assessments was -1.30 (-1.51--1.05) for the total score, -0.5 (-0.66--0.39) for the shoulder domain, -0.6 (-0.74--0.5) for the elbow domain and -0.1 (-0.20--0.06) for the distal domain.At 24 months, the mean PUL 2.0 change on all the paired assessments was -2.9 (-3.29--2.60) for the total score, -1.30 (-1.47--1.09) for the shoulder domain, -1.30 (-1.45--1.11) for the elbow domain and -0.4 (-1.48--1.29) for the distal domain.Changes at 12 and 24 months were statistically significant between subgroups with different functional abilities for the total score and each domain (p < 0.001). Conclusion: There were different patterns of changes among the functional subgroups in the individual domains. The time of transition, including the year before and after loss of ambulation, show the peak of negative changes in PUL total scores that reflect not only loss of shoulder but also of elbow activities. These results suggest that patterns of changes should be considered at the time of designing clinical trials.

Published
2023

22. Prevalence of Spinal Muscular Atrophy in the Era of Disease-Modifying Therapies: An Italian Nationwide Survey

Author

Coratti, Giorgia, Ricci, Martina, Capasso, Anna, D'Amico, Adele, Sansone, Valeria, Bissoli, Claudio Bruno, Messina, Sonia, Ricci, Federica, Mongini, Tiziana, Coccia, Michela, Siciliano, Gabriele, Pegoraro, Elena, Turri, Mara, Filosto, Massimiliano, Comi, Giacomo, Masson, Riccardo, Maggi, Lorenzo, Bruno, Irene, D'Angelo, Maria Grazia, Trabacca, Antonio, Vacchiano, Veria, Donati, Maria, Simone, Isabella, Ruggiero, Lucia, Varone, Antonio, Verriello, Lorenzo, Berardinelli, Angela, Agosto, Caterina, Pini, Antonella, Maioli, Maria Antonietta, Passamano, Luigia, Brighina, Filippo, Carboni, Nicola, Garibaldi, Matteo, Zuccarino, Riccardo, Gagliardi, Delio, Siliquini, Sabrina, Previtali, Stefano, Taruscio, Domenica, Boccia, Stefania, Pera, Maria Carmela, Pane, Marika, Mercuri, Eugenio Maria, Coratti, Giorgia (ORCID:0000-0001-6666-5628), D'amico, Adele, Bruno, Claudio, Boccia, Stefania (ORCID:0000-0002-1864-749X), Pera, Maria Carmela (ORCID:0000-0001-6777-1721), Pane, Marika (ORCID:0000-0002-4851-6124), Mercuri, Eugenio (ORCID:0000-0002-9851-5365), Coratti, Giorgia, Ricci, Martina, Capasso, Anna, D'Amico, Adele, Sansone, Valeria, Bissoli, Claudio Bruno, Messina, Sonia, Ricci, Federica, Mongini, Tiziana, Coccia, Michela, Siciliano, Gabriele, Pegoraro, Elena, Turri, Mara, Filosto, Massimiliano, Comi, Giacomo, Masson, Riccardo, Maggi, Lorenzo, Bruno, Irene, D'Angelo, Maria Grazia, Trabacca, Antonio, Vacchiano, Veria, Donati, Maria, Simone, Isabella, Ruggiero, Lucia, Varone, Antonio, Verriello, Lorenzo, Berardinelli, Angela, Agosto, Caterina, Pini, Antonella, Maioli, Maria Antonietta, Passamano, Luigia, Brighina, Filippo, Carboni, Nicola, Garibaldi, Matteo, Zuccarino, Riccardo, Gagliardi, Delio, Siliquini, Sabrina, Previtali, Stefano, Taruscio, Domenica, Boccia, Stefania, Pera, Maria Carmela, Pane, Marika, Mercuri, Eugenio Maria, Coratti, Giorgia (ORCID:0000-0001-6666-5628), D'amico, Adele, Bruno, Claudio, Boccia, Stefania (ORCID:0000-0002-1864-749X), Pera, Maria Carmela (ORCID:0000-0001-6777-1721), Pane, Marika (ORCID:0000-0002-4851-6124), and Mercuri, Eugenio (ORCID:0000-0002-9851-5365)

Abstract

Objective: Spinal muscular atrophy (SMA) is a neurodegenerative disorder caused by mutations in the SMN1 gene. The aim of this study was to assess the prevalence of SMA and treatment prescription in Italy. Methods: An online survey was distributed to 36 centers identified by the Italian government as referral centers for SMA. Data on the number of patients with SMA subdivided according to age, type, SMN2 copy number, and treatment were collected. Results: One thousand two hundred fifty-five patients with SMA are currently followed in the Italian centers with an estimated prevalence of 2.12/100,000. Of the 1,255, 284 were type I, 470 type II, 467 type III, and 15 type IV with estimated prevalence of 0.48, 0.79, 0.79 and 0.02/100,000, respectively. Three patients with SMA 0 and 16 presymptomatic patients were also included. Approximately 85% were receiving one of the available treatments. The percentage of treated patients decreased with decreasing severity (SMA I: 95.77%, SMA II: 85.11%, SMA III: 79.01%). Discussion: The results provide for the first time an estimate of the prevalence of SMA at the national level and the current distribution of patients treated with the available therapeutical options. These data provide a baseline to assess future changes in relation to the evolving therapeutical scenario.

Published
2023

23. Benefits of glucocorticoids in non-ambulant boys/men with Duchenne muscular dystrophy: A multicentric longitudinal study using the Performance of Upper Limb test

Author

Pane, Marika, Fanelli, Lavinia, Mazzone, Elena Stacy, Olivieri, Giorgia, D'Amico, Adele, Messina, Sonia, Scutifero, Marianna, Battini, Roberta, Petillo, Roberta, Frosini, Silvia, Sivo, Serena, Vita, Gian Luca, Bruno, Claudio, Mongini, Tiziana, Pegoraro, Elena, De Sanctis, Roberto, Gardani, Alice, Berardinelli, Angela, Lanzillotta, Valentina, Carlesi, Adelina, Viggiano, Emanuela, Cavallaro, Filippo, Sframeli, Maria, Bello, Luca, Barp, Andrea, Bianco, Flaviana, Bonfiglio, Serena, Rolle, Enrica, Palermo, Concetta, D'Angelo, Grazia, Pini, Antonella, Iotti, Elena, Gorni, Ksenija, Baranello, Giovanni, Bertini, Enrico, Politano, Luisa, Sormani, Maria Pia, and Mercuri, Eugenio

Published
2015
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25. Reliability of the Performance of Upper Limb assessment in Duchenne muscular dystrophy

Author

Pane, Marika, Mazzone, Elena S., Fanelli, Lavinia, De Sanctis, Roberto, Bianco, Flaviana, Sivo, Serena, D’Amico, Adele, Messina, Sonia, Battini, Roberta, Scutifero, Marianna, Petillo, Roberta, Frosini, Silvia, Scalise, Roberta, Vita, Gianluca, Bruno, Claudio, Pedemonte, Marina, Mongini, Tiziana, Pegoraro, Elena, Brustia, Francesca, Gardani, Alice, Berardinelli, Angela, Lanzillotta, Valentina, Viggiano, Emanuela, Cavallaro, Filippo, Sframeli, Maria, Bello, Luca, Barp, Andrea, Bonfiglio, Serena, Rolle, Enrica, Colia, Giulia, Catteruccia, Michela, Palermo, Concetta, D’Angelo, Grazia, Pini, Antonella, Iotti, Elena, Gorni, Ksenija, Baranello, Giovanni, Morandi, Lucia, Bertini, Enrico, Politano, Luisa, Sormani, MariaPia, and Mercuri, Eugenio

Published
2014
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26. Brivaracetam in treating epileptic encephalopathy and refractory focal epilepsies in patients under 14 years of age

Author

RUSSO, Angelo, CUTERI, Vittoria, BANSAL, Lalit, BONANNI, Paolo, DANIELI, Alberto, PINI, Antonella, and GOBBI, Giuseppe

Subjects
Epileptic encephalopathy, Brivaracetam, Drug-resistant epilepsy, Case Report, Childhood epilepsy
Abstract

Objectives To analyze the efficacy and safety of Brivaracetam in pediatric patients with epileptic encephalopathy or unresponsive focal epilepsy. Materials & Methods This retrospective study included eight pediatric patients with EE or unresponsive focal epilepsy. Inclusion criteria: (1) ≤14 years, (2) history of refractory epilepsy, (3) at least one month of continuous therapy with BRV, and (4) at least six months of follow-up. Exclusion criteria: (1) variation of concomitant antiepileptic drugs during the previous and/or subsequent four weeks of the BRV introduction, (2) levetiracetam in therapy, (3) epilepsy secondary to the progressive cerebral disease, tumor, or any other progressive neurodegenerative diseases, and (4) a status epilepticus a month before screening or during the baseline period. The efficacy of BRV was defined as ≥50% of seizure frequency reduction at the end of the follow-up, compared to baseline. Results: All patients showed ≥50% seizure frequency reduction, of whom 37.5% were seizure-free, 25% had a frequency reduction of ≥75%, and 37.5% had frequency reduction of ≥ 50%. All patients with an epilepsy onset >12 months and epilepsy duration of ≤6 years were seizure-free. The maximum effect was achieved at 2 mg/kg/day, and focal seizures revealed a better response than epileptic encephalopathy. A remarkably positive effect of the Brivaracetam was noticed in patients with encephalopathy regarding the status epilepticus during sleep; however, no relevant side-effects were noted. Conclusion: Brivaracetam was an effective and well-tolerated treatment in pediatric patients with epileptic encephalopathy or unresponsive focal epilepsy, especially for the epilepsy onset >12 months and the epilepsy duration ≤6 years. The total effect was not dose-dependent. Brivaracetam could represent an indication of encephalopathy regarding the status epilepticus during sleep.

Published
2021

27. Emergencies cards for neuromuscular disorders 1st Consensus Meeting from UILDM - Italian Muscular Dystrophy Association Workshop report

Author

Racca, Fabrizio, Sansone, Valeria A, Ricci, Federica, Filosto, Massimiliano, Pedroni, Stefania, Mazzone, Elena Stacy, Longhitano, Yaroslava, Zanza, Christian, Ardissone, Anna, Adorisio, Rachele, Berardinelli, Angela, Bondone, Claudia, Briani, Chiara, Cairello, Francesca, Carraro, Elena, Comi, Giacomo P, Crescimanno, Grazia, D'Amico, Adele, Deiaco, Fabio, Fabiano, Alessia, Franceschi, Francesco, Mancuso, Michelangelo, Massè, Alessandro, Messina, Sonia, Mongini, Tiziana, Moroni, Isabella, Moscatelli, Andrea, Musumeci, Olimpia, Navalesi, Paolo, Nigro, Gerardo, Origo, Carlo, Panicucci, Chiara, Pane, Marika, Pavone, Martino, Pedemonte, Marina, Pegoraro, Elena, Piastra, Marco, Pini, Antonella, Politano, Luisa, Previtali, Stefano, Rao, Fabrizio, Ricci, Giulia, Toscano, Antonio, Wolfler, Andrea, Zoccola, Khristian, Sancricca, Cristina, Nigro, Vincenzo, Trabacca, Antonio, Vianello, Andrea, Bruno, Claudio, Mazzone, Elena, Franceschi, Francesco (ORCID:0000-0001-6266-445X), Pane, Marika (ORCID:0000-0002-4851-6124), Racca, Fabrizio, Sansone, Valeria A, Ricci, Federica, Filosto, Massimiliano, Pedroni, Stefania, Mazzone, Elena Stacy, Longhitano, Yaroslava, Zanza, Christian, Ardissone, Anna, Adorisio, Rachele, Berardinelli, Angela, Bondone, Claudia, Briani, Chiara, Cairello, Francesca, Carraro, Elena, Comi, Giacomo P, Crescimanno, Grazia, D'Amico, Adele, Deiaco, Fabio, Fabiano, Alessia, Franceschi, Francesco, Mancuso, Michelangelo, Massè, Alessandro, Messina, Sonia, Mongini, Tiziana, Moroni, Isabella, Moscatelli, Andrea, Musumeci, Olimpia, Navalesi, Paolo, Nigro, Gerardo, Origo, Carlo, Panicucci, Chiara, Pane, Marika, Pavone, Martino, Pedemonte, Marina, Pegoraro, Elena, Piastra, Marco, Pini, Antonella, Politano, Luisa, Previtali, Stefano, Rao, Fabrizio, Ricci, Giulia, Toscano, Antonio, Wolfler, Andrea, Zoccola, Khristian, Sancricca, Cristina, Nigro, Vincenzo, Trabacca, Antonio, Vianello, Andrea, Bruno, Claudio, Mazzone, Elena, Franceschi, Francesco (ORCID:0000-0001-6266-445X), and Pane, Marika (ORCID:0000-0002-4851-6124)

Abstract

Acute hospitalisation may be required to support patients with Neuromuscular disorders (NMDs) mainly experiencing respiratory complications, swallowing difficulties, heart failure, urgent surgical procedures. As NMDs may need specific treatments, they should be ideally managed in specialized hospitals. Nevertheless, if urgent treatment is required, patients with NMD should be managed at the closest hospital site, which may not be a specialized centre where local emergency physicians have the adequate experience to manage these patients. Although NMDs are a group of conditions that can differ in terms of disease onset, progression, severity and involvement of other systems, many recommendations are transversal and apply to the most frequent NMDs. Emergency Cards (EC), which report the most common recommendations on respiratory and cardiac issues and provide indications for drugs/treatments to be used with caution, are actively used in some countries by patients with NMDs. In Italy, there is no consensus on the use of any EC, and a minority of patients adopt it regularly in case of emergency. In April 2022, 50 participants from different centres in Italy met in Milan, Italy, to agree on a minimum set of recommendations for urgent care management which can be extended to the vast majority of NMDs. The aim of the workshop was to agree on the most relevant information and recommendations regarding the main topics related to emergency care of patients with NMD in order to produce specific ECs for the 13 most frequent NMDs.

Published
2022

28. Prevalence of Spinal Muscular Atrophy in the Era of Disease-Modifying Therapies: An Italian Nationwide Survey

Author

Coratti, Giorgia, Ricci, Martina, Capasso, Anna, D'Amico, Adele, Sansone, Valeria, Bissoli, Claudio Bruno, Messina, Sonia, Ricci, Federica, Mongini, Tiziana, Coccia, Michela, Siciliano, Gabriele, Pegoraro, Elena, Turri, Mara, Filosto, Massimiliano, Comi, Giacomo, Masson, Riccardo, Maggi, Lorenzo, Bruno, Irene, D'Angelo, Maria Grazia, Trabacca, Antonio, Vacchiano, Veria, Donati, Maria, Simone, Isabella, Ruggiero, Lucia, Varone, Antonio, Verriello, Lorenzo, Berardinelli, Angela, Agosto, Caterina, Pini, Antonella, Maioli, Maria Antonietta, Passamano, Luigia, Brighina, Filippo, Carboni, Nicola, Garibaldi, Matteo, Zuccarino, Riccardo, Gagliardi, Delio, Siliquini, Sabrina, Previtali, Stefano, Taruscio, Domenica, Boccia, Stefania, Pera, Maria Carmela, Pane, Marika, Mercuri, Eugenio Maria, Coratti, Giorgia (ORCID:0000-0001-6666-5628), D'amico, Adele, Bruno, Claudio, Boccia, Stefania (ORCID:0000-0002-1864-749X), Pera, Maria Carmela (ORCID:0000-0001-6777-1721), Pane, Marika (ORCID:0000-0002-4851-6124), Mercuri, Eugenio (ORCID:0000-0002-9851-5365), Coratti, Giorgia, Ricci, Martina, Capasso, Anna, D'Amico, Adele, Sansone, Valeria, Bissoli, Claudio Bruno, Messina, Sonia, Ricci, Federica, Mongini, Tiziana, Coccia, Michela, Siciliano, Gabriele, Pegoraro, Elena, Turri, Mara, Filosto, Massimiliano, Comi, Giacomo, Masson, Riccardo, Maggi, Lorenzo, Bruno, Irene, D'Angelo, Maria Grazia, Trabacca, Antonio, Vacchiano, Veria, Donati, Maria, Simone, Isabella, Ruggiero, Lucia, Varone, Antonio, Verriello, Lorenzo, Berardinelli, Angela, Agosto, Caterina, Pini, Antonella, Maioli, Maria Antonietta, Passamano, Luigia, Brighina, Filippo, Carboni, Nicola, Garibaldi, Matteo, Zuccarino, Riccardo, Gagliardi, Delio, Siliquini, Sabrina, Previtali, Stefano, Taruscio, Domenica, Boccia, Stefania, Pera, Maria Carmela, Pane, Marika, Mercuri, Eugenio Maria, Coratti, Giorgia (ORCID:0000-0001-6666-5628), D'amico, Adele, Bruno, Claudio, Boccia, Stefania (ORCID:0000-0002-1864-749X), Pera, Maria Carmela (ORCID:0000-0001-6777-1721), Pane, Marika (ORCID:0000-0002-4851-6124), and Mercuri, Eugenio (ORCID:0000-0002-9851-5365)

Abstract

Objective: Spinal muscular atrophy (SMA) is a neurodegenerative disorder caused by mutations in the SMN1 gene. The aim was to assess the prevalence of SMA and treatment prescription in Italy. Methods: An online survey was distributed to 36 centers identified by the Italian government as referral centers for SMA. Data on number of SMA patients subdivided according to age, type, SMN2 copy number and treatment were collected. Results: 1255 SMA patients are currently followed in the Italian centers with an estimated prevalence of 2.12/100000. Of the 1255, 284 were type I, 470 type II, 467 type III and 15 type IV with estimated prevalence of 0.48, 0.79, 0.79 and 0.02/100000 respectively. Three SMA 0 and 16 presymptomatic patients were also included.Around 85% were receiving one of the available treatments. The percentage of treated patients decreased with decreasing severity (SMA I: 95.77%, SMA II: 85.11%,SMA III: 79.01%). Discussion: The results provide for the first time an estimate of the prevalence of SMA at the national level and the current distribution of patients treated with the available therapeutical options. These data provide a baseline to assess future changes in relation to the evolving therapeutical scenario.

Published
2022

29. Age, corticosteroid treatment and site of mutations affect motor functional changes in young boys with Duchenne Muscular Dystrophy

Author

Coratti, Giorgia, Lenkowicz, Jacopo, Norcia, Giulia, Lucibello, Simona, Ferraroli, Elisabetta, D'Amico, Adele, Bello, Luca, Pegoraro, Elena, Messina, Sonia, Ricci, Federica, Mongini, Tiziana, Berardinelli, Angela, Masson, Riccardo, Previtali, Stefano C, D'Angelo, Grazia, Magri, Francesca, Comi, Giacomo P, Politano, Luisa, Passamano, Luigia, Vita, Gianluca, Sansone, Valeria A, Albamonte, Emilio, Panicucci, Chiara, Bruno, Claudio, Pini, Antonella, Bertini, Enrico Silvio, Patarnello, Stefano, Pane, Marika, Mercuri, Eugenio Maria, Pera, Maria Carmela, Coratti, Giorgia (ORCID:0000-0001-6666-5628), Bertini, Enrico, Pane, Marika (ORCID:0000-0002-4851-6124), Mercuri, Eugenio (ORCID:0000-0002-9851-5365), italian DMD study group (ORCID:0000-0001-6777-1721), Coratti, Giorgia, Lenkowicz, Jacopo, Norcia, Giulia, Lucibello, Simona, Ferraroli, Elisabetta, D'Amico, Adele, Bello, Luca, Pegoraro, Elena, Messina, Sonia, Ricci, Federica, Mongini, Tiziana, Berardinelli, Angela, Masson, Riccardo, Previtali, Stefano C, D'Angelo, Grazia, Magri, Francesca, Comi, Giacomo P, Politano, Luisa, Passamano, Luigia, Vita, Gianluca, Sansone, Valeria A, Albamonte, Emilio, Panicucci, Chiara, Bruno, Claudio, Pini, Antonella, Bertini, Enrico Silvio, Patarnello, Stefano, Pane, Marika, Mercuri, Eugenio Maria, Pera, Maria Carmela, Coratti, Giorgia (ORCID:0000-0001-6666-5628), Bertini, Enrico, Pane, Marika (ORCID:0000-0002-4851-6124), Mercuri, Eugenio (ORCID:0000-0002-9851-5365), and italian DMD study group (ORCID:0000-0001-6777-1721)

Abstract

The aim of this study was to establish the possible effect of age, corticosteroid treatment and brain dystrophin involvement on motor function in young boys affected by Duchenne Muscular Dystrophy who were assessed using the North Star Ambulatory Assessment between the age of 4 and 7 years. The study includes 951 North Star assessments from 226 patients. Patients were subdivided according to age, to the site of mutation and therefore to the involvement of different brain dystrophin isoforms and to corticosteroids duration. There was a difference in the maximum North Star score achieved among patients with different brain dystrophin isoforms (p = 0.007). Patients with the involvement of Dp427, Dp140 and Dp71, had lower maximum NSAA scores when compared to those with involvement of Dp427 and Dp140 or of Dp427 only. The difference in the age when the maximum score was achieved in the different subgroups did not reach statistical significance. Using a linear regression model on all assessments we found that each of the three variables, age, site of mutation and corticosteroid treatment had an influence on the NSAA values and their progression over time. A second analysis, looking at 12-month changes showed that within this time interval the magnitude of changes was related to corticosteroid treatment but not to site of mutation. Our findings suggest that each of the considered variables appear to play a role in the progression of North Star scores in patients between the age of 4 and 7 years and that these should be carefully considered in the trial design of boys in this age range.

Published
2022

30. Upper Limb Changes in DMD Patients Amenable to Skipping Exons 44, 45, 51 and 53: A 24-Month Study.

Author

Brogna, Claudia, Pane, Marika, Coratti, Giorgia, D'Amico, Adele, Pegoraro, Elena, Bello, Luca, Sansone, Valeria Ada Maria, Albamonte, Emilio, Messina, Sonia, Pini, Antonella, D'Angelo, Maria Grazia, Bruno, Claudio, Mongini, Tiziana, Ricci, Federica Silvia, Berardinelli, Angela, Battini, Roberta, Masson, Riccardo, Bertini, Enrico Silvio, Politano, Luisa, and Mercuri, Eugenio

Subjects
TREATMENT of Duchenne muscular dystrophy, STATISTICS, ANALYSIS of variance, ARM, COMPARATIVE studies, SEVERITY of illness index, GENE therapy, GENES, RESEARCH funding, DESCRIPTIVE statistics, REPEATED measures design, DATA analysis, DATA analysis software, LONGITUDINAL method
Abstract

Introduction: The Performance of Upper Limb version 2.0 (PUL 2.0) is increasingly used in Duchenne Muscular Dystrophy (DMD) to study longitudinal functional changes of motor upper limb function in ambulant and non-ambulant patients. The aim of this study was to evaluate changes in upper limb functions in patients carrying mutations amenable to skipping exons 44, 45, 51 and 53. Methods: All DMD patients were assessed using the PUL 2.0 for at least 2 years, focusing on 24-month paired visits in those with mutations eligible for skipping exons 44, 45, 51 and 53. Results: 285 paired assessments were available. The mean total PUL 2.0 12-month change was −0.67 (2.80), −1.15 (3.98), −1.46 (3.37) and −1.95 (4.04) in patients carrying mutations amenable to skipping exon 44, 45, 51 and 53, respectively. The mean total PUL 2.0 24-month change was −1.47 (3.73), −2.78 (5.86), −2.95 (4.56) and −4.53 (6.13) in patients amenable to skipping exon 44, 45, 51 and 53, respectively. The difference in PUL 2.0 mean changes among the type of exon skip class for the total score was not significant at 12 months but was significant at 24 months for the total score (p < 0.001), the shoulder (p = 0.01) and the elbow domain (p < 0.001), with patients amenable to skipping exon 44 having smaller changes compared to those amenable to skipping exon 53. There was no difference within ambulant or non-ambulant cohorts when subdivided by exon skip class for the total and subdomains score (p > 0.05). Conclusions: Our results expand the information on upper limb function changes detected by the PUL 2.0 in a relatively large group of DMD patients with distinct exon-skipping classes. This information can be of help when designing clinical trials or in the interpretation of the real world data including non-ambulant patients. [ABSTRACT FROM AUTHOR]

Published
2023
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31. Centronuclear myopathies: genotype–phenotype correlation and frequency of defined genetic forms in an Italian cohort

Author

Fattori, Fabiana, Maggi, Lorenzo, Bruno, Claudio, Cassandrini, Denise, Codemo, Valentina, Catteruccia, Michela, Tasca, Giorgio, Berardinelli, Angela, Magri, Francesca, Pane, Marika, Rubegni, Anna, Santoro, Lucio, Ruggiero, Lucia, Fiorini, Patrizio, Pini, Antonella, Mongini, Tiziana, Messina, Sonia, Brisca, Giacomo, Colombo, Irene, Astrea, Guja, Fiorillo, Chiara, Bragato, Cinzia, Moroni, Isabella, Pegoraro, Elena, D’Apice, Maria Rosaria, Alfei, Enrico, Mora, Marina, Morandi, Lucia, Donati, Alice, Evilä, Anni, Vihola, Anna, Udd, Bjarne, Bernansconi, Pia, Mercuri, Eugenio, Santorelli, Filippo Maria, Bertini, Enrico, and D’Amico, Adele

Published
2015
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33. North Star Ambulatory Assessment, 6-minute walk test and timed items in ambulant boys with Duchenne muscular dystrophy

Author

Mazzone, Elena, Martinelli, Diego, Berardinelli, Angela, Messina, Sonia, D’Amico, Adele, Vasco, Gessica, Main, Marion, Doglio, Luca, Politano, Luisa, Cavallaro, Filippo, Frosini, Silvia, Bello, Luca, Carlesi, Adelina, Bonetti, Anna Maria, Zucchini, Elisabetta, Sanctis, Roberto De, Scutifero, Marianna, Bianco, Flaviana, Rossi, Francesca, Motta, Maria Chiara, Sacco, Annalisa, Donati, Maria Alice, Mongini, Tiziana, Pini, Antonella, Battini, Roberta, Pegoraro, Elena, Pane, Marika, Pasquini, Elisabetta, Bruno, Claudio, Vita, Giuseppe, Waure, Chiara de, Bertini, Enrico, and Mercuri, Eugenio

Published
2010
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34. Correction to: Monoallelic KIF1A-related disorders: a multicenter cross sectional study and systematic literature review

Author

Della Vecchia, Stefania, primary, Tessa, Alessandra, additional, Dosi, Claudia, additional, Baldacci, Jacopo, additional, Pasquariello, Rosa, additional, Antenora, Antonella, additional, Astrea, Guja, additional, Bassi, Maria Teresa, additional, Battini, Roberta, additional, Casali, Carlo, additional, Cioffi, Ettore, additional, Conti, Greta, additional, De Michele, Giovanna, additional, Ferrari, Anna Rita, additional, Filla, Alessandro, additional, Fiorillo, Chiara, additional, Fusco, Carlo, additional, Gallone, Salvatore, additional, Germiniasi, Chiara, additional, Guerrini, Renzo, additional, Haggiag, Shalom, additional, Lopergolo, Diego, additional, Martinuzzi, Andrea, additional, Melani, Federico, additional, Mignarri, Andrea, additional, Panzeri, Elena, additional, Pini, Antonella, additional, Pinto, Anna Maria, additional, Pochiero, Francesca, additional, Primiano, Guido, additional, Procopio, Elena, additional, Renieri, Alessandra, additional, Romaniello, Romina, additional, Sancricca, Cristina, additional, Servidei, Serenella, additional, Spagnoli, Carlotta, additional, Ticci, Chiara, additional, Rubegni, Anna, additional, and Santorelli, Filippo Maria, additional

Published
2021
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35. Mutations associated with hypokalemic periodic paralysis: from hotspot regions to complete analysis of CACNA1S and SCN4A genes

Author

Brugnoni, Raffaella, primary, Canioni, Eleonora, additional, Filosto, Massimiliano, additional, Pini, Antonella, additional, Tonin, Paola, additional, Rossi, Tommaso, additional, Canavese, Carlotta, additional, Eoli, Marica, additional, Siciliano, Gabriele, additional, Lauria, Giuseppe, additional, Mantegazza, Renato, additional, and Maggi, Lorenzo, additional

Published
2021
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36. Monoallelic KIF1A-related disorders: a multicenter cross sectional study and systematic literature review

Author

Vecchia, Stefania Della, primary, Tessa, Alessandra, additional, Dosi, Claudia, additional, Baldacci, Jacopo, additional, Pasquariello, Rosa, additional, Antenora, Antonella, additional, Astrea, Guja, additional, Bassi, Maria Teresa, additional, Battini, Roberta, additional, Casali, Carlo, additional, Cioffi, Ettore, additional, Conti, Greta, additional, De Michele, Giovanna, additional, Ferrari, Anna Rita, additional, Filla, Alessandro, additional, Fiorillo, Chiara, additional, Fusco, Carlo, additional, Gallone, Salvatore, additional, Germiniasi, Chiara, additional, Guerrini, Renzo, additional, Haggiag, Shalom, additional, Lopergolo, Diego, additional, Martinuzzi, Andrea, additional, Melani, Federico, additional, Mignarri, Andrea, additional, Panzeri, Elena, additional, Pini, Antonella, additional, Pinto, Anna Maria, additional, Pochiero, Francesca, additional, Primiano, Guido, additional, Procopio, Elena, additional, Renieri, Alessandra, additional, Romaniello, Romina, additional, Sancricca, Cristina, additional, Servidei, Serenella, additional, Spagnoli, Carlotta, additional, Ticci, Chiara, additional, Rubegni, Anna, additional, and Santorelli, Filippo Maria, additional

Published
2021
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37. Bilateral facial nerve palsy in a child: When the smile returns

Author

Messana, Tullio, Lombardi, Francesca, Canini, Andrea, Russo, Angelo, Landini, Chiara, Curatolo, Arcangela, Pini, Antonella, and Ghizzi, Chiara

Subjects
Facial paralysis -- Diagnosis -- Research, Magnetic resonance imaging -- Usage, Pediatric research, Epstein-Barr virus, Virus diseases, Genetic disorders, Infection, Paralysis, Health
Abstract

Byline: Tullio. Messana, Francesca. Lombardi, Andrea. Canini, Angelo. Russo, Chiara. Landini, Arcangela. Curatolo, Antonella. Pini, Chiara. Ghizzi Bilateral facial nerve palsy (FNP) is an extremely rare clinical condition. Different from [...]

Published
2018

38. Glucose transporter type 1 deficiency syndrome: Developmental delay and early-onset ataxia in a novel mutation of the SLC2A1 gene

Author

Messana, Tullio, Russo, Angelo, Vergaro, Raffaella, Boni, Antonella, Santucci, Margherita, and Pini, Antonella

Subjects
Ataxia -- Genetic aspects -- Research, Biological transport -- Research, Gene mutation -- Research, Pediatric research, Dystonia, Genes, Epilepsy, Spasticity, Glucose, Health
Abstract

Byline: Tullio. Messana, Angelo. Russo, Raffaella. Vergaro, Antonella. Boni, Margherita. Santucci, Antonella. Pini Glucose transporter type 1 deficiency syndrome (GLUT1-DS) was first described by De Vivo in 1991, and the [...]

Published
2018

39. Prevalence of Spinal Muscular Atrophy in the Era of Disease-Modifying Therapies

Author

Coratti, Giorgia, Ricci, Martina, Capasso, Anna, D'amico, Adele, Sansone, Valeria, Bruno, Claudio, Messina, Sonia, Ricci, Federica, Mongini, Tiziana, Coccia, Michela, Siciliano, Gabriele, Pegoraro, Elena, Turri, Mara, Filosto, Massimiliano, Comi, Giacomo, Masson, Riccardo, Maggi, Lorenzo, Bruno, Irene, D'Angelo, Maria Grazia, Trabacca, Antonio, Vacchiano, Veria, Donati, Maria, Simone, Isabella, Ruggiero, Lucia, Varone, Antonio, Verriello, Lorenzo, Berardinelli, Angela, Agosto, Caterina, Pini, Antonella, Maioli, Maria Antonietta, Passamano, Luigia, Brighina, Filippo, Carboni, Nicola, Garibaldi, Matteo, Zuccarino, Riccardo, Gagliardi, Delio, Siliquini, Sabrina, Previtali, Stefano, Taruscio, Domenica, Boccia, Stefania, Pera, Maria Carmela, Pane, Marika, and Mercuri, Eugenio

Published
2023
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42. Early vagus nerve stimulator implantation as a main predictor of positive outcome in pediatric patients with epileptic encephalopathy

Author

Russo, Angelo, additional, Hyslop, Ann, additional, Gentile, Valentina, additional, Boni, Antonella, additional, Miller, Ian, additional, Chiarello, Daniela, additional, Pellino, Giuditta, additional, Zenesini, Corrado, additional, Martinoni, Matteo, additional, Lima, Mario, additional, Ragheb, John, additional, Cordelli, Duccio Maria, additional, Pini, Antonella, additional, Jayakar, Prasanna, additional, and Duchowny, Michael, additional

Published
2021
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44. Neural substrates of neuropsychological profiles in dystrophynopathies: A pilot study of diffusion tractography imaging

Author

Biagi, Laura, primary, Lenzi, Sara, additional, Cipriano, Emilio, additional, Fiori, Simona, additional, Bosco, Paolo, additional, Cristofani, Paola, additional, Astrea, Guia, additional, Pini, Antonella, additional, Cioni, Giovanni, additional, Mercuri, Eugenio, additional, Tosetti, Michela, additional, and Battini, Roberta, additional

Published
2021
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45. Highlight article: Effects of tocotrienol supplementation in Friedreich’s ataxia: A model of oxidative stress pathology

Author

Bolotta, Alessandra, Pini, Antonella, Abruzzo, Provvidenza M, Ghezzo, Alessandro, Modesti, Alessandra, Gamberi, Tania, Ferreri, Carla, Bugamelli, Francesca, Fortuna, Filippo, Vertuani, Silvia, Manfredini, Stefano, Zucchini, Cinzia, and Marini, Marina

Subjects
Friedreich’s ataxia, tocotrienol, oxidative stress markers, inflammation, lipidomics, hepcidin, inflammation, Ambientale, LS7_3, Friedreich’s ataxia, lipidomics, tocotrienol, hepcidin, oxidative stress markers
Published
2020

46. Encephalopathy related to status epilepticus during sleep due to a de novo KCNA1 variant in the Kv-specific Pro-Val-Pro motif:phenotypic description and remarkable electroclinical response to ACTH

Author

Russo, Angelo, Gobbi, Giuseppe, Pini, Antonella, M⊘ller, Rikke Steensbjerre, Rubboli, Guido, Russo, Angelo, Gobbi, Giuseppe, Pini, Antonella, M⊘ller, Rikke Steensbjerre, and Rubboli, Guido

Abstract

Although the classic phenotype of episodic ataxia type 1 (EA1) caused by variants in KCNA1 includes episodic ataxia and myokymia, further genotype-phenotype correlations are difficult to establish due to highly heterogeneous clinical presentations associated with KCNA1 pathogenic variants. De novo variants in the paralogous Pro-Val-Pro motif (PVP) of KCNA2, an essential region for channel gating, have been reported to be associated with severe epilepsy phenotypes, including developmental and epileptic encephalopathies (DEE). Here, we describe the first patient with a DEE who developed an encephalopathy related to status epilepticus during sleep (ESES) and cerebellar signs, harbouring a variant in the Kv-specific PVP motif of the KCNA1 gene. Interestingly, he showed a remarkable long-term electroclinical response to IM ACTH therapy. This report extends the range of phenotypes associated with KCNA1 variants to include that of ESES, and suggests that ACTH therapy is likely to have a positive effect in patients with these variants.

Published
2020

47. The Genetic Landscape of Dystrophin Mutations in Italy: A Nationwide Study

Author

Neri, Marcella, Rossi, Rachele, Trabanelli, Cecilia, Mauro, Antonio, Selvatici, Rita, Falzarano, Maria Sofia, Spedicato, Noemi, Margutti, Alice, Rimessi, Paola, Fortunato, Fernanda, Fabris, Marina, Gualandi, Francesca, Comi, Giacomo, Tedeschi, Silvana, Seia, Manuela, Fiorillo, Chiara, Traverso, Monica, Bruno, Claudio, Giardina, Emiliano, Piemontese, Maria Rosaria, Merla, Giuseppe, Cau, Milena, Marica, Monica, Scuderi, Carmela, Borgione, Eugenia, Tessa, Alessandra, Astrea, Guia, Santorelli, Filippo Maria, Merlini, Luciano, Mora, Marina, Bernasconi, Pia, Gibertini, Sara, Sansone, Valeria, Mongini, Tiziana, Berardinelli, Angela, Pini, Antonella, Liguori, Rocco, Filosto, Massimiliano, Messina, Sonia, Vita, Gianluca, Toscano, Antonio, Vita, Giuseppe, Pane, Marika, Servidei, Serenella, Pegoraro, Elena, Bello, Luca, Travaglini, Lorena, Bertini, Enrico, D'Amico, Adele, Ergoli, Manuela, Politano, Luisa, Torella, Annalaura, Nigro, Vincenzo, Mercuri, Eugenio Maria, Ferlini, Alessandra, Pane, Marika (ORCID:0000-0002-4851-6124), Servidei, Serenella (ORCID:0000-0001-8478-2799), Mercuri, Eugenio (ORCID:0000-0002-9851-5365), Neri, Marcella, Rossi, Rachele, Trabanelli, Cecilia, Mauro, Antonio, Selvatici, Rita, Falzarano, Maria Sofia, Spedicato, Noemi, Margutti, Alice, Rimessi, Paola, Fortunato, Fernanda, Fabris, Marina, Gualandi, Francesca, Comi, Giacomo, Tedeschi, Silvana, Seia, Manuela, Fiorillo, Chiara, Traverso, Monica, Bruno, Claudio, Giardina, Emiliano, Piemontese, Maria Rosaria, Merla, Giuseppe, Cau, Milena, Marica, Monica, Scuderi, Carmela, Borgione, Eugenia, Tessa, Alessandra, Astrea, Guia, Santorelli, Filippo Maria, Merlini, Luciano, Mora, Marina, Bernasconi, Pia, Gibertini, Sara, Sansone, Valeria, Mongini, Tiziana, Berardinelli, Angela, Pini, Antonella, Liguori, Rocco, Filosto, Massimiliano, Messina, Sonia, Vita, Gianluca, Toscano, Antonio, Vita, Giuseppe, Pane, Marika, Servidei, Serenella, Pegoraro, Elena, Bello, Luca, Travaglini, Lorena, Bertini, Enrico, D'Amico, Adele, Ergoli, Manuela, Politano, Luisa, Torella, Annalaura, Nigro, Vincenzo, Mercuri, Eugenio Maria, Ferlini, Alessandra, Pane, Marika (ORCID:0000-0002-4851-6124), Servidei, Serenella (ORCID:0000-0001-8478-2799), and Mercuri, Eugenio (ORCID:0000-0002-9851-5365)

Abstract

Dystrophinopathies are inherited diseases caused by mutations in the dystrophin (DMD) gene for which testing is mandatory for genetic diagnosis, reproductive choices and eligibility for personalized trials. We genotyped the DMD gene in our Italian cohort of 1902 patients (BMD n = 740, 39%; DMD n =1162, 61%) within a nationwide study involving 11 diagnostic centers in a 10-year window (2008-2017). In DMD patients, we found deletions in 57%, duplications in 11% and small mutations in 32%. In BMD, we found deletions in 78%, duplications in 9% and small mutations in 13%. In BMD, there are a higher number of deletions, and small mutations are more frequent than duplications. Among small mutations that are generally frequent in both phenotypes, 44% of DMD and 36% of BMD are nonsense, thus, eligible for stop codon read-through therapy; 63% of all out-of-frame deletions are eligible for single exon skipping. Patients were also assigned to Italian regions and showed interesting regional differences in mutation distribution. The full genetic characterization in this large, nationwide cohort has allowed us to draw several correlations between DMD/BMD genotype landscapes and mutation frequency, mutation types, mutation locations along the gene, exon/intron architecture, and relevant protein domain, with effects on population genetic characteristics and new personalized therapies.

Published
2020

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