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4 results on '"Zangaro, Vittoria"'

1. Adults with spinal muscular atrophy: a large-scale natural history study shows gender effect on disease

Author

Maggi, Lorenzo, primary, Bello, Luca, additional, Bonanno, Silvia, additional, Govoni, Alessandra, additional, Caponnetto, Claudia, additional, Passamano, Luigia, additional, Grandis, Marina, additional, Trojsi, Francesca, additional, Cerri, Federica, additional, Gardani, Alice, additional, Ferraro, Manfredi, additional, Gadaleta, Giulio, additional, Zangaro, Vittoria, additional, Caumo, Luca, additional, Maioli, Mariantonietta, additional, Tanel, Raffaella, additional, Saccani, Elena, additional, Meneri, Megi, additional, Vacchiano, Veria, additional, Ricci, Giulia, additional, Sorarù, Gianni, additional, D'Errico, Eustachio, additional, Bortolani, Sara, additional, Pavesi, Giovanni, additional, Gellera, Cinzia, additional, Zanin, Riccardo, additional, Corti, Stefania, additional, Silvestrini, Mauro, additional, Politano, Luisa, additional, Schenone, Angelo, additional, Previtali, Stefano Carlo, additional, Berardinelli, Angela, additional, Turri, Mara, additional, Verriello, Lorenzo, additional, Coccia, Michela, additional, Mantegazza, Renato, additional, Liguori, Rocco, additional, Filosto, Massimiliano, additional, Marrosu, Gianni, additional, Tiziano, Francesco Danilo, additional, Siciliano, Gabriele, additional, Simone, Isabella Laura, additional, Mongini, Tiziana, additional, Comi, Giacomo, additional, and Pegoraro, Elena, additional

Published
2022
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2. New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy

Author

Alonso-Pérez, Jorge, González-Quereda, Lidia, Bello, Luca, Guglieri, Michela, Straub, Volker, Gallano, Pia, Semplicini, Claudio, Pegoraro, Elena, Zangaro, Vittoria, Nascimento, Andrés, Ortez, Carlos, Comi, Giacomo Pietro, Dam, Leroy Ten, De Visser, Marianne, van der Kooi, A J, Garrido, Cristina, Santos, Manuela, Schara, Ulrike, Gangfuß, Andrea, Løkken, Nicoline, Storgaard, Jesper Helbo, Vissing, John, Schoser, Benedikt, Dekomien, Gabriele, Udd, Bjarne, Palmio, Johanna, D'Amico, Adele, Politano, Luisa, Nigro, Vincenzo, Bruno, Claudio, Panicucci, Chiara, Sarkozy, Anna, Abdel-Mannan, Omar, Alonso-Jimenez, Alicia, Claeys, Kristl G, Gomez-Andrés, David, Munell, Francina, Costa-Comellas, Laura, Haberlová, Jana, Rohlenová, Marie, Elke, De Vos, De Bleecker, Jan L, Dominguez-González, Cristina, Tasca, Giorgio, Weiss, Claudia, Deconinck, Nicolas, Fernández-Torrón, Roberto, López de Munain, Adolfo, Camacho-Salas, Ana, Melegh, Béla, Hadzsiev, Kinga, Leonardis, Lea, Koritnik, Blaz, Garibaldi, Matteo, de Leon-Hernández, Juan Carlos, Malfatti, Edoardo, Fraga-Bau, Arturo, Richard, Isabelle, Illa, Isabel, Díaz-Manera, Jordi, Alonso-Pérez, Jorge, González-Quereda, Lidia, Bello, Luca, Guglieri, Michela, Straub, Volker, Gallano, Pia, Semplicini, Claudio, Pegoraro, Elena, Zangaro, Vittoria, Nascimento, Andrés, Ortez, Carlos, Comi, Giacomo Pietro, Dam, Leroy Ten, De Visser, Marianne, van der Kooi, A J, Garrido, Cristina, Santos, Manuela, Schara, Ulrike, Gangfuß, Andrea, Løkken, Nicoline, Storgaard, Jesper Helbo, Vissing, John, Schoser, Benedikt, Dekomien, Gabriele, Udd, Bjarne, Palmio, Johanna, D'Amico, Adele, Politano, Luisa, Nigro, Vincenzo, Bruno, Claudio, Panicucci, Chiara, Sarkozy, Anna, Abdel-Mannan, Omar, Alonso-Jimenez, Alicia, Claeys, Kristl G, Gomez-Andrés, David, Munell, Francina, Costa-Comellas, Laura, Haberlová, Jana, Rohlenová, Marie, Elke, De Vos, De Bleecker, Jan L, Dominguez-González, Cristina, Tasca, Giorgio, Weiss, Claudia, Deconinck, Nicolas, Fernández-Torrón, Roberto, López de Munain, Adolfo, Camacho-Salas, Ana, Melegh, Béla, Hadzsiev, Kinga, Leonardis, Lea, Koritnik, Blaz, Garibaldi, Matteo, de Leon-Hernández, Juan Carlos, Malfatti, Edoardo, Fraga-Bau, Arturo, Richard, Isabelle, Illa, Isabel, and Díaz-Manera, Jordi

Abstract

Sarcoglycanopathies comprise four subtypes of autosomal recessive limb-girdle muscular dystrophies (LGMDR3, LGMDR4, LGMDR5 and LGMDR6) that are caused, respectively, by mutations in the SGCA, SGCB, SGCG and SGCD genes. In 2016, several clinicians involved in the diagnosis, management and care of patients with LGMDR3-6 created a European Sarcoglycanopathy Consortium. The aim of the present study was to determine the clinical and genetic spectrum of a large cohort of patients with sarcoglycanopathy in Europe. This was an observational retrospective study. A total of 33 neuromuscular centres from 13 different European countries collected data of the genetically confirmed patients with sarcoglycanopathy followed-up at their centres. Demographic, genetic and clinical data were collected for this study. Data from 439 patients from 13 different countries were collected. Forty-three patients were not included in the analysis because of insufficient clinical information available. A total of 159 patients had a confirmed diagnosis of LGMDR3, 73 of LGMDR4, 157 of LGMDR5 and seven of LGMDR6. Patients with LGMDR3 had a later onset and slower progression of the disease. Cardiac involvement was most frequent in LGMDR4. Sixty per cent of LGMDR3 patients carried one of the following mutations, either in a homozygous or heterozygous state: c.229C>T, c.739G>A or c.850C>T. Similarly, the most common mutations in LMGDR5 patients were c.525delT or c.848G>A. In LGMDR4 patients the most frequent mutation was c.341C>T. We identified onset of symptoms before 10 years of age and residual protein expression lower than 30% as independent risk factors for losing ambulation before 18 years of age, in LGMDR3, LGMDR4 and LGMDR5 patients. This study reports clinical, genetic and protein data of a large European cohort of patients with sarcoglycanopathy. Improving our knowledge about these extremely rare autosomal recessive forms of LGMD was helped by a collaborative effort of neuro

Published
2020

3. New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy

Author

Alonso-Pérez, Jorge, primary, González-Quereda, Lidia, additional, Bello, Luca, additional, Guglieri, Michela, additional, Straub, Volker, additional, Gallano, Pia, additional, Semplicini, Claudio, additional, Pegoraro, Elena, additional, Zangaro, Vittoria, additional, Nascimento, Andrés, additional, Ortez, Carlos, additional, Comi, Giacomo Pietro, additional, Dam, Leroy ten, additional, De Visser, Marianne, additional, van der Kooi, A J, additional, Garrido, Cristina, additional, Santos, Manuela, additional, Schara, Ulrike, additional, Gangfuß, Andrea, additional, Løkken, Nicoline, additional, Storgaard, Jesper Helbo, additional, Vissing, John, additional, Schoser, Benedikt, additional, Dekomien, Gabriele, additional, Udd, Bjarne, additional, Palmio, Johanna, additional, D'Amico, Adele, additional, Politano, Luisa, additional, Nigro, Vincenzo, additional, Bruno, Claudio, additional, Panicucci, Chiara, additional, Sarkozy, Anna, additional, Abdel-Mannan, Omar, additional, Alonso-Jimenez, Alicia, additional, Claeys, Kristl G, additional, Gomez-Andrés, David, additional, Munell, Francina, additional, Costa-Comellas, Laura, additional, Haberlová, Jana, additional, Rohlenová, Marie, additional, Elke, De Vos, additional, De Bleecker, Jan L, additional, Dominguez-González, Cristina, additional, Tasca, Giorgio, additional, Weiss, Claudia, additional, Deconinck, Nicolas, additional, Fernández-Torrón, Roberto, additional, López de Munain, Adolfo, additional, Camacho-Salas, Ana, additional, Melegh, Béla, additional, Hadzsiev, Kinga, additional, Leonardis, Lea, additional, Koritnik, Blaz, additional, Garibaldi, Matteo, additional, de Leon-Hernández, Juan Carlos, additional, Malfatti, Edoardo, additional, Fraga-Bau, Arturo, additional, Richard, Isabelle, additional, Illa, Isabel, additional, and Díaz-Manera, Jordi, additional

Published
2020
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4. New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy patients

Author

Laura Costa-Comellas, Chiara Panicucci, Ana Camacho-Salas, Ulrike Schara, Claudio Semplicini, Isabel Illa, Arturo Fraga-Bau, Leroy ten Dam, Jan De Bleecker, Lea Leonardis, Jesper Helbo Storgaard, Juan Carlos de Leon-Hernández, Vittoria Zangaro, Giacomo P. Comi, Vincenzo Nigro, Adele D'Amico, Benedikt Schoser, Pia Gallano, Manuela Santos, Edoardo Malfatti, Cristina Domínguez-González, F. Munell, De Vos Elke, Alicia Alonso-Jimenez, Matteo Garibaldi, Bjarne Udd, Nicoline Løkken, A. J. van der Kooi, Giorgio Tasca, John Vissing, Jordi Díaz-Manera, Elena Pegoraro, Andrea Gangfuß, Jorge Alonso-Pérez, Claudia Weiss, Luisa Politano, Marie Rohlenová, Cristina Garrido, David Gómez-Andrés, Jana Haberlová, Roberto Fernández-Torrón, Gabriele Dekomien, Kristl G. Claeys, Marianne de Visser, Andrés Nascimento, Michela Guglieri, Carlos Ortez, Isabelle Richard, Lidia Gonzalez-Quereda, Béla Melegh, Claudio Bruno, Omar Abdel-Mannan, Anna Sarkozy, Adolfo López de Munain, Blaz Koritnik, Nicolas Deconinck, Kinga Hadzsiev, Luca Bello, Johanna Palmio, Volker Straub, Approches génétiques intégrées et nouvelles thérapies pour les maladies rares (INTEGRARE), Université d'Évry-Val-d'Essonne (UEVE)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Saclay-Généthon, Neurology, ANS - Neuroinfection & -inflammation, Graduate School, Alonso-Pérez, Jorge, González-Quereda, Lidia, Bello, Luca, Guglieri, Michela, Straub, Volker, Gallano, Pia, Semplicini, Claudio, Pegoraro, Elena, Zangaro, Vittoria, Nascimento, André, Ortez, Carlo, Comi, Giacomo Pietro, ten Dam, Leroy, De Visser, Marianne, van der Kooi, A J, Garrido, Cristina, Santos, Manuela, Schara, Ulrike, Gangfuß, Andrea, Løkken, Nicoline, Storgaard, Jesper Helbo, Vissing, John, Schoser, Benedikt, Dekomien, Gabriele, Udd, Bjarne, Palmio, Johanna, D'Amico, Adele, Politano, Luisa, Nigro, Vincenzo, Bruno, Claudio, Panicucci, Chiara, Sarkozy, Anna, Abdel-Mannan, Omar, Alonso-Jimenez, Alicia, Claeys, Kristl G, Gomez-Andrés, David, Munell, Francina, Costa-Comellas, Laura, Haberlová, Jana, Rohlenová, Marie, Elke, De Vo, De Bleecker, Jan L, Dominguez-González, Cristina, Tasca, Giorgio, Weiss, Claudia, Deconinck, Nicola, Fernández-Torrón, Roberto, López de Munain, Adolfo, Camacho-Salas, Ana, Melegh, Béla, Hadzsiev, Kinga, Leonardis, Lea, Koritnik, Blaz, Garibaldi, Matteo, de Leon-Hernández, Juan Carlo, Malfatti, Edoardo, Fraga-Bau, Arturo, Richard, Isabelle, Illa, Isabel, and Díaz-Manera, Jordi

Subjects
0301 basic medicine, Registrie, Male, [SDV.BIO]Life Sciences [q-bio]/Biotechnology, Medizin, Limb girdle muscular dystrophie, Cohort Studies, 0302 clinical medicine, Registries, Child, sarcoglycan, ComputingMilieux_MISCELLANEOUS, treatment, Cohort, cohort, Middle Aged, limb girdle muscular dystrophies, 3. Good health, Europe, Child, Preschool, registries, Female, Cohort study, Sarcoglycanopathies, Adult, medicine.medical_specialty, Adolescent, 03 medical and health sciences, Young Adult, Internal medicine, medicine, Humans, Limb girdle muscular dystrophies, Sarcoglycan, Genetic Association Studies, SGCA, Aged, Retrospective Studies, business.industry, Retrospective cohort study, [SDV.BBM.BM]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Molecular biology, medicine.disease, Treatment, 030104 developmental biology, Sarcoglycanopathy, Muscular Dystrophies, Limb-Girdle, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Neurology (clinical), Human medicine, Age of onset, business, 030217 neurology & neurosurgery, Limb-girdle muscular dystrophy
Abstract

Sarcoglycanopathies comprise four subtypes of autosomal recessive limb-girdle muscular dystrophies (LGMDR3, LGMDR4, LGMDR5 and LGMDR6) that are caused, respectively, by mutations in the SGCA, SGCB, SGCG and SGCD genes. In 2016, several clinicians involved in the diagnosis, management and care of patients with LGMDR3–6 created a European Sarcoglycanopathy Consortium. The aim of the present study was to determine the clinical and genetic spectrum of a large cohort of patients with sarcoglycanopathy in Europe. This was an observational retrospective study. A total of 33 neuromuscular centres from 13 different European countries collected data of the genetically confirmed patients with sarcoglycanopathy followed-up at their centres. Demographic, genetic and clinical data were collected for this study. Data from 439 patients from 13 different countries were collected. Forty-three patients were not included in the analysis because of insufficient clinical information available. A total of 159 patients had a confirmed diagnosis of LGMDR3, 73 of LGMDR4, 157 of LGMDR5 and seven of LGMDR6. Patients with LGMDR3 had a later onset and slower progression of the disease. Cardiac involvement was most frequent in LGMDR4. Sixty per cent of LGMDR3 patients carried one of the following mutations, either in a homozygous or heterozygous state: c.229C>T, c.739G>A or c.850C>T. Similarly, the most common mutations in LMGDR5 patients were c.525delT or c.848G>A. In LGMDR4 patients the most frequent mutation was c.341C>T. We identified onset of symptoms before 10 years of age and residual protein expression lower than 30% as independent risk factors for losing ambulation before 18 years of age, in LGMDR3, LGMDR4 and LGMDR5 patients. This study reports clinical, genetic and protein data of a large European cohort of patients with sarcoglycanopathy. Improving our knowledge about these extremely rare autosomal recessive forms of LGMD was helped by a collaborative effort of neuromuscular centres across Europe. Our study provides important data on the genotype-phenotype correlation that is relevant for the design of natural history studies and upcoming interventional trials in sarcoglycanopathies.

Published
2020

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