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1. Towards a common language in neurosurgical outcome evaluation: the NEON (NEurosurgical Outcome Network) proposal

Author

Ferroli, Paolo, Schiavolin, Silvia, Mariniello, Arianna, Acerbi, Francesco, Restelli, Francesco, Schiariti, Marco, LA Corte, Emanuele, Falco, Jacopo, Levi, Vincenzo, Dimeco, Francesco, Assietti, Roberto, Bongetta, Daniele, V Colombo, Elena, Bellocchi, Silvio, Sangiorgi, Simone, Bistazzoni, Simona, Polosa, Maria, I Orru, Maria, Spena, Giannantonio, Bernucci, Claudio, M Sicignano, Angelo, Fanti, Andrea, Brembilla, Carlo, Resmini, Bruno, Costi, Emanuele, Cenzato, Marco, Talamonti, Giuseppe, Bottini, Gabriella, Scarpa, Pina, Bollani, Alessandra, Querzola, Matteo, Palmas, Giulio, DE Gonda, Federico, Bosio, Lorenzo, Egidi, Marcello, Tardivo, Valentina, Fioravanti, Antonio, Subacchi, Sara, Fontanella, Marco, Biroli, Antonio, Cereda, Claudio, Paolo Panciani, Pier, Bergomi, Riccardo, Pertichetti, Marta, Tancioni, Flavio, Bona, Alberto, A Tartara, Fulvio, Fornari, Maurizio, Pessina, Federico, Lasio, Giovanni, Cardia, Andrea, Servadei, Franco, Riva, Marco, Casarotti, Alessandra, Giussani, Carlo, Fiori, Leonardo, Mazzoleni, Fabio, Vaiani, Simona, Carrabba, Giorgio, DI Cristofori, Andrea, P Sganzerla, Erik, Vimercati, Alberto, Isella, Valeria, Mauri, Ilaria, Incerti, Michele, Sicuri, Giovanni, Miramonti, Valentina, Stefini, Roberto, Spagnoli, Diego, Piparo, Maurizio, Grimod, Gianluca, Regazzoni, Rossana, Vismara, Daniela, Mazzeo, Lucio, Monti, Emanuele, Franzin, Alberto, Vivaldi, Oscar, Maietti, Alessandra, Pini, Elisa, Servello, Domenico, Zekaj, Edvin, DE Michele, Sara, Locatelli, Marco, Borsa, Stefano, Grimoldi, Nadia, Caroli, Manuela, Tariciotti, Leonardo, Abete-Fornara, Giorgia, Vitale, Mario, Leonardi, Matilde, Broggi, Morgan, Paolo Ferroli, Silvia Schiavolin, Arianna Mariniello, Francesco Acerbi, Francesco Restelli, Marco Schiariti, Emanuele LA Corte, Jacopo Falco, Vincenzo Levi, Francesco Dimeco, Roberto Assietti, Daniele Bongetta, Elena V Colombo, Silvio Bellocchi, Simone Sangiorgi, Simona Bistazzoni, Maria Polosa, Maria I Orru, Giannantonio Spena, Claudio Bernucci, Angelo M Sicignano, Andrea Fanti, Carlo Brembilla, Bruno Resmini, Emanuele Costi, Marco Cenzato, Giuseppe Talamonti, Gabriella Bottini, Pina Scarpa, Alessandra Bollani, Matteo Querzola, Giulio Palmas, Federico DE Gonda, Lorenzo Bosio, Marcello Egidi, Valentina Tardivo, Antonio Fioravanti, Sara Subacchi, Marco Fontanella, Antonio Biroli, Claudio Cereda, Pier Paolo Panciani, Riccardo Bergomi, Marta Pertichetti, Flavio Tancioni, Alberto Bona, Fulvio A Tartara, Maurizio Fornari, Federico Pessina, Giovanni Lasio, Andrea Cardia, Franco Servadei, Marco Riva, Alessandra Casarotti, Carlo Giussani, Leonardo Fiori, Fabio Mazzoleni, Simona Vaiani, Giorgio Carrabba, Andrea DI Cristofori, Erik P Sganzerla, Alberto Vimercati, Valeria Isella, Ilaria Mauri, Michele Incerti, Giovanni Sicuri, Valentina Miramonti, Roberto Stefini, Diego Spagnoli, Maurizio Piparo, Gianluca Grimod, Rossana Regazzoni, Daniela Vismara, Lucio Mazzeo, Emanuele Monti, Alberto Franzin, Oscar Vivaldi, Alessandra Maietti (ORCID:0000-0002-9819-7037), Elisa Pini, Domenico Servello, Edvin Zekaj, Sara DE Michele, Marco Locatelli, Stefano Borsa, Nadia Grimoldi, Manuela Caroli, Leonardo Tariciotti, Giorgia Abete-Fornara, Mario Vitale, Matilde Leonardi, Morgan Broggi, Ferroli, Paolo, Schiavolin, Silvia, Mariniello, Arianna, Acerbi, Francesco, Restelli, Francesco, Schiariti, Marco, LA Corte, Emanuele, Falco, Jacopo, Levi, Vincenzo, Dimeco, Francesco, Assietti, Roberto, Bongetta, Daniele, V Colombo, Elena, Bellocchi, Silvio, Sangiorgi, Simone, Bistazzoni, Simona, Polosa, Maria, I Orru, Maria, Spena, Giannantonio, Bernucci, Claudio, M Sicignano, Angelo, Fanti, Andrea, Brembilla, Carlo, Resmini, Bruno, Costi, Emanuele, Cenzato, Marco, Talamonti, Giuseppe, Bottini, Gabriella, Scarpa, Pina, Bollani, Alessandra, Querzola, Matteo, Palmas, Giulio, DE Gonda, Federico, Bosio, Lorenzo, Egidi, Marcello, Tardivo, Valentina, Fioravanti, Antonio, Subacchi, Sara, Fontanella, Marco, Biroli, Antonio, Cereda, Claudio, Paolo Panciani, Pier, Bergomi, Riccardo, Pertichetti, Marta, Tancioni, Flavio, Bona, Alberto, A Tartara, Fulvio, Fornari, Maurizio, Pessina, Federico, Lasio, Giovanni, Cardia, Andrea, Servadei, Franco, Riva, Marco, Casarotti, Alessandra, Giussani, Carlo, Fiori, Leonardo, Mazzoleni, Fabio, Vaiani, Simona, Carrabba, Giorgio, DI Cristofori, Andrea, P Sganzerla, Erik, Vimercati, Alberto, Isella, Valeria, Mauri, Ilaria, Incerti, Michele, Sicuri, Giovanni, Miramonti, Valentina, Stefini, Roberto, Spagnoli, Diego, Piparo, Maurizio, Grimod, Gianluca, Regazzoni, Rossana, Vismara, Daniela, Mazzeo, Lucio, Monti, Emanuele, Franzin, Alberto, Vivaldi, Oscar, Maietti, Alessandra, Pini, Elisa, Servello, Domenico, Zekaj, Edvin, DE Michele, Sara, Locatelli, Marco, Borsa, Stefano, Grimoldi, Nadia, Caroli, Manuela, Tariciotti, Leonardo, Abete-Fornara, Giorgia, Vitale, Mario, Leonardi, Matilde, Broggi, Morgan, Paolo Ferroli, Silvia Schiavolin, Arianna Mariniello, Francesco Acerbi, Francesco Restelli, Marco Schiariti, Emanuele LA Corte, Jacopo Falco, Vincenzo Levi, Francesco Dimeco, Roberto Assietti, Daniele Bongetta, Elena V Colombo, Silvio Bellocchi, Simone Sangiorgi, Simona Bistazzoni, Maria Polosa, Maria I Orru, Giannantonio Spena, Claudio Bernucci, Angelo M Sicignano, Andrea Fanti, Carlo Brembilla, Bruno Resmini, Emanuele Costi, Marco Cenzato, Giuseppe Talamonti, Gabriella Bottini, Pina Scarpa, Alessandra Bollani, Matteo Querzola, Giulio Palmas, Federico DE Gonda, Lorenzo Bosio, Marcello Egidi, Valentina Tardivo, Antonio Fioravanti, Sara Subacchi, Marco Fontanella, Antonio Biroli, Claudio Cereda, Pier Paolo Panciani, Riccardo Bergomi, Marta Pertichetti, Flavio Tancioni, Alberto Bona, Fulvio A Tartara, Maurizio Fornari, Federico Pessina, Giovanni Lasio, Andrea Cardia, Franco Servadei, Marco Riva, Alessandra Casarotti, Carlo Giussani, Leonardo Fiori, Fabio Mazzoleni, Simona Vaiani, Giorgio Carrabba, Andrea DI Cristofori, Erik P Sganzerla, Alberto Vimercati, Valeria Isella, Ilaria Mauri, Michele Incerti, Giovanni Sicuri, Valentina Miramonti, Roberto Stefini, Diego Spagnoli, Maurizio Piparo, Gianluca Grimod, Rossana Regazzoni, Daniela Vismara, Lucio Mazzeo, Emanuele Monti, Alberto Franzin, Oscar Vivaldi, Alessandra Maietti (ORCID:0000-0002-9819-7037), Elisa Pini, Domenico Servello, Edvin Zekaj, Sara DE Michele, Marco Locatelli, Stefano Borsa, Nadia Grimoldi, Manuela Caroli, Leonardo Tariciotti, Giorgia Abete-Fornara, Mario Vitale, Matilde Leonardi, and Morgan Broggi

Abstract

BACKGROUNDː To achieve a consensus on the minimum set of outcome measures and predictors to be used in the neurosurgical practice and on the timing of outcome assessment. METHODSː A consensus building approach was employed. All neurosurgical departments in Lombardy (Italy) were invited to participate by the Fondazione IRCCS Istituto Neurologico Carlo Besta. Three workshops were organized during which a multidisciplinary group called Neurosurgical Outcome Network (NEON) was created and the methodology to select outcome measures, predictors, and timing of outcome assessment was established. Eight working groups were created for the different neurosurgical diseases (neuro-oncological, skull base, vascular, traumatic, spinal, peripheral nervous system, malformation, functional) and 8 workshops were organized to identify the outcome measures and predictors specific for each of the neurosurgical diseases based on the experts’ clinical practice and the existing literature. RESULTSː A total of 20 neurosurgical departments participated in this study. Specific outcome measures, predictors and the timing of outcome assessment were identified for each of the 8 neurosurgical diseases. Moreover, a list of variables common to all pathologies were identified by the NEON group as further data to be collected. CONCLUSIONSː A consensus on the minimum set of outcome measures and predictors and the timing of outcome assessments for 8 neurosurgical diseases was achieved by a group of neurosurgeons of the Lombardy region, called NEON. These sets could be used in future studies for a more homogeneous data collection and as a starting point to reach further agreement also at national and international level.

Published
2023

2. Towards a common language in neurosurgical outcome evaluation: the NEON (NEurosurgical Outcome Network) proposal

Author

Ferroli, P, Schiavolin, S, Mariniello, A, Acerbi, F, Restelli, F, Schiariti, M, LA Corte, E, Falco, J, Levi, V, Dimeco, F, Assietti, R, Bongetta, D, Colombo, E, Bellocchi, S, Sangiorgi, S, Bistazzoni, S, Polosa, M, Orru, M, Spena, G, Bernucci, C, Sicignano, A, Fanti, A, Brembilla, C, Resmini, B, Costi, E, Cenzato, M, Talamonti, G, Bottini, G, Scarpa, P, Bollani, A, Querzola, M, Palmas, G, DE Gonda, F, Bosio, L, Egidi, M, Tardivo, V, Fioravanti, A, Subacchi, S, Fontanella, M, Biroli, A, Cereda, C, Panciani, P, Bergomi, R, Pertichetti, M, Tancioni, F, Bona, A, Tartara, F, Fornari, M, Pessina, F, Lasio, G, Cardia, A, Servadei, F, Riva, M, Casarotti, A, Giussani, C, Fiori, L, Mazzoleni, F, Vaiani, S, Carrabba, G, DI Cristofori, A, Sganzerla, E, Vimercati, A, Isella, V, Mauri, I, Incerti, M, Sicuri, G, Miramonti, V, Stefini, R, Spagnoli, D, Piparo, M, Grimod, G, Regazzoni, R, Vismara, D, Mazzeo, L, Monti, E, Franzin, A, Vivaldi, O, Maietti, A, Pini, E, Servello, D, Zekaj, E, DE Michele, S, Locatelli, M, Borsa, S, Grimoldi, N, Caroli, M, Tariciotti, L, Abete-Fornara, G, Vitale, M, Leonardi, M, Broggi, M, Ferroli, Paolo, Schiavolin, Silvia, Mariniello, Arianna, Acerbi, Francesco, Restelli, Francesco, Schiariti, Marco, LA Corte, Emanuele, Falco, Jacopo, Levi, Vincenzo, Dimeco, Francesco, Assietti, Roberto, Bongetta, Daniele, Colombo, Elena V, Bellocchi, Silvio, Sangiorgi, Simone, Bistazzoni, Simona, Polosa, Maria, Orru, Maria I, Spena, Giannantonio, Bernucci, Claudio, Sicignano, Angelo M, Fanti, Andrea, Brembilla, Carlo, Resmini, Bruno, Costi, Emanuele, Cenzato, Marco, Talamonti, Giuseppe, Bottini, Gabriella, Scarpa, Pina, Bollani, Alessandra, Querzola, Matteo, Palmas, Giulio, DE Gonda, Federico, Bosio, Lorenzo, Egidi, Marcello, Tardivo, Valentina, Fioravanti, Antonio, Subacchi, Sara, Fontanella, Marco, Biroli, Antonio, Cereda, Claudio, Panciani, Pier Paolo, Bergomi, Riccardo, Pertichetti, Marta, Tancioni, Flavio, Bona, Alberto, Tartara, Fulvio A, Fornari, Maurizio, Pessina, Federico, Lasio, Giovanni, Cardia, Andrea, Servadei, Franco, Riva, Marco, Casarotti, Alessandra, Giussani, Carlo, Fiori, Leonardo, Mazzoleni, Fabio, Vaiani, Simona, Carrabba, Giorgio, DI Cristofori, Andrea, Sganzerla, Erik P, Vimercati, Alberto, Isella, Valeria, Mauri, Ilaria, Incerti, Michele, Sicuri, Giovanni, Miramonti, Valentina, Stefini, Roberto, Spagnoli, Diego, Piparo, Maurizio, Grimod, Gianluca, Regazzoni, Rossana, Vismara, Daniela, Mazzeo, Lucio, Monti, Emanuele, Franzin, Alberto, Vivaldi, Oscar, Maietti, Alessandra, Pini, Elisa, Servello, Domenico, Zekaj, Edvin, DE Michele, Sara, Locatelli, Marco, Borsa, Stefano, Grimoldi, Nadia, Caroli, Manuela, Tariciotti, Leonardo, Abete-Fornara, Giorgia, Vitale, Mario, Leonardi, Matilde, Broggi, Morgan, Ferroli, P, Schiavolin, S, Mariniello, A, Acerbi, F, Restelli, F, Schiariti, M, LA Corte, E, Falco, J, Levi, V, Dimeco, F, Assietti, R, Bongetta, D, Colombo, E, Bellocchi, S, Sangiorgi, S, Bistazzoni, S, Polosa, M, Orru, M, Spena, G, Bernucci, C, Sicignano, A, Fanti, A, Brembilla, C, Resmini, B, Costi, E, Cenzato, M, Talamonti, G, Bottini, G, Scarpa, P, Bollani, A, Querzola, M, Palmas, G, DE Gonda, F, Bosio, L, Egidi, M, Tardivo, V, Fioravanti, A, Subacchi, S, Fontanella, M, Biroli, A, Cereda, C, Panciani, P, Bergomi, R, Pertichetti, M, Tancioni, F, Bona, A, Tartara, F, Fornari, M, Pessina, F, Lasio, G, Cardia, A, Servadei, F, Riva, M, Casarotti, A, Giussani, C, Fiori, L, Mazzoleni, F, Vaiani, S, Carrabba, G, DI Cristofori, A, Sganzerla, E, Vimercati, A, Isella, V, Mauri, I, Incerti, M, Sicuri, G, Miramonti, V, Stefini, R, Spagnoli, D, Piparo, M, Grimod, G, Regazzoni, R, Vismara, D, Mazzeo, L, Monti, E, Franzin, A, Vivaldi, O, Maietti, A, Pini, E, Servello, D, Zekaj, E, DE Michele, S, Locatelli, M, Borsa, S, Grimoldi, N, Caroli, M, Tariciotti, L, Abete-Fornara, G, Vitale, M, Leonardi, M, Broggi, M, Ferroli, Paolo, Schiavolin, Silvia, Mariniello, Arianna, Acerbi, Francesco, Restelli, Francesco, Schiariti, Marco, LA Corte, Emanuele, Falco, Jacopo, Levi, Vincenzo, Dimeco, Francesco, Assietti, Roberto, Bongetta, Daniele, Colombo, Elena V, Bellocchi, Silvio, Sangiorgi, Simone, Bistazzoni, Simona, Polosa, Maria, Orru, Maria I, Spena, Giannantonio, Bernucci, Claudio, Sicignano, Angelo M, Fanti, Andrea, Brembilla, Carlo, Resmini, Bruno, Costi, Emanuele, Cenzato, Marco, Talamonti, Giuseppe, Bottini, Gabriella, Scarpa, Pina, Bollani, Alessandra, Querzola, Matteo, Palmas, Giulio, DE Gonda, Federico, Bosio, Lorenzo, Egidi, Marcello, Tardivo, Valentina, Fioravanti, Antonio, Subacchi, Sara, Fontanella, Marco, Biroli, Antonio, Cereda, Claudio, Panciani, Pier Paolo, Bergomi, Riccardo, Pertichetti, Marta, Tancioni, Flavio, Bona, Alberto, Tartara, Fulvio A, Fornari, Maurizio, Pessina, Federico, Lasio, Giovanni, Cardia, Andrea, Servadei, Franco, Riva, Marco, Casarotti, Alessandra, Giussani, Carlo, Fiori, Leonardo, Mazzoleni, Fabio, Vaiani, Simona, Carrabba, Giorgio, DI Cristofori, Andrea, Sganzerla, Erik P, Vimercati, Alberto, Isella, Valeria, Mauri, Ilaria, Incerti, Michele, Sicuri, Giovanni, Miramonti, Valentina, Stefini, Roberto, Spagnoli, Diego, Piparo, Maurizio, Grimod, Gianluca, Regazzoni, Rossana, Vismara, Daniela, Mazzeo, Lucio, Monti, Emanuele, Franzin, Alberto, Vivaldi, Oscar, Maietti, Alessandra, Pini, Elisa, Servello, Domenico, Zekaj, Edvin, DE Michele, Sara, Locatelli, Marco, Borsa, Stefano, Grimoldi, Nadia, Caroli, Manuela, Tariciotti, Leonardo, Abete-Fornara, Giorgia, Vitale, Mario, Leonardi, Matilde, and Broggi, Morgan

Abstract

Background: The aim of this study was to achieve a consensus on the minimum set of outcome measures and predictors to be used in the neurosurgical practice and on the timing of outcome assessment. Methods: A consensus building approach was employed. All neurosurgical departments in Lombardy (Italy) were invited to participate by the Carlo Besta Neurologic Institute IRCCS Foundation. Three workshops were organized during which a multidisciplinary group called Neurosurgical Outcome Network (NEON) was created and the methodology to select outcome measures, predictors, and timing of outcome assessment was established. Eight working groups were created for the different neurosurgical diseases (neuro-oncological, skull base, vascular, traumatic, spinal, peripheral nervous system, malformation, functional) and 8 workshops were organized to identify the outcome measures and predictors specific for each of the neurosurgical diseases based on the experts' clinical practice and the existing literature. Results: A total of 20 neurosurgical departments participated in this study. Specific outcome measures, predictors and the timing of outcome assessment were identified for each of the 8 neurosurgical diseases. Moreover, a list of variables common to all pathologies were identified by the NEON group as further data to be collected. Conclusions: A consensus on the minimum set of outcome measures and predictors and the timing of outcome assessments for 8 neurosurgical diseases was achieved by a group of neurosurgeons of the Lombardy region, called NEON. These sets could be used in future studies for a more homogeneous data collection and as a starting point to reach further agreement also at national and international level.

Published
2023

3. Limb girdle muscular dystrophy due to LAMA2 gene mutations: new mutations expand the clinical spectrum of a still challenging diagnosis

Author

Magri, Francesca, Brusa, Roberta, Bello, Luca, Peverelli, Lorenzo, Del Bo, Roberto, Govoni, Alessandra, Cinnante, Claudia, Colombo, Irene, Fortunato, Francesco, Tironi, Roberto, Corti, Stefania, Grimoldi, Nadia, Sciacco, Monica, Bresolin, Nereo, Pegoraro, Elena, Moggio, Maurizio, and Comi, Giacomo Pietro

Subjects
leukoencephalopathy, brain MRI, LAMA2 gene, limb girdle muscular dystrophy, merosin, muscle MRI
Published
2020

4. MYH2 myopathy, a new case expands the clinical and pathological spectrum of the recessive form

Author

Telese, Roberta, primary, Pagliarani, Serena, additional, Lerario, Alberto, additional, Ciscato, Patrizia, additional, Fagiolari, Gigliola, additional, Cassandrini, Denise, additional, Grimoldi, Nadia, additional, Conte, Giorgio, additional, Cinnante, Claudia, additional, Santorelli, Filippo M., additional, Comi, Giacomo P., additional, Sciacco, Monica, additional, and Peverelli, Lorenzo, additional

Published
2020
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5. Mitochondrial Changes in Platelets Are Not Related to Those in Skeletal Muscle during Human Septic Shock

Author

Protti, Alessandro, primary, Fortunato, Francesco, additional, Caspani, Maria L., additional, Pluderi, Mauro, additional, Lucchini, Valeria, additional, Grimoldi, Nadia, additional, Solimeno, Luigi P., additional, Fagiolari, Gigliola, additional, Ciscato, Patrizia, additional, Zella, Samis M. A., additional, Moggio, Maurizio, additional, Comi, Giacomo P., additional, and Gattinoni, Luciano, additional

Published
2014
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6. Giant intracranial aneurysm following radiation therapy: literature review with a novel case discussion.

Author

Paolucci A, Schisano L, Pluderi M, Grimoldi N, Caranci F, Angileri A, Arrichiello A, and Costa A

Subjects
Humans, Intracranial Aneurysm etiology
Abstract

Background: The aim of this paper is to report the results of our review of the literature of published cases of intracranial aneurysms appearing after radiotherapy, and to present our case to add it to the current literature, in order to discuss the role of inflammation., Methods: We searched the PubMed database using combinations of the following MeSH terms: intracranial aneurysm, radiosurgery, radiotherapy, inflammatory changes in aneurysmal walls from 1967 to 2019., Results: 51 studies, for a total cohort of 60 patients, are described. The median latency between the radiation treatment and the diagnosis was 9,83 years, ranging from a minimum of 0,33 to a maximum of 33. The modality of rays' administration was variable, and the dosage ranged from a minimum of 12 grays to a maximum of 177,2 grays. The anterior circulation appeared to be more frequently involved, and the most compromised vessel was the internal carotid artery. Radiation-induced vascular diseases have already been described in literature as well as RT-induced cellular and structural changes such as necrosis, macrophage or mononuclear cell infiltration, and several data support the role of inflammation in the development and remodelling of intracranial aneurysms, that, on one hand, favours them and, on the other, is necessary to their healing after endovascular treatment., Conclusions: Our team suggested a new insight in the management of these vascular lesions, which corresponds to a lower threshold when deciding whether or not to treat, and a longer and stricter follow-up.

Published
2020
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7. Limb girdle muscular dystrophy due to LAMA2 gene mutations: new mutations expand the clinical spectrum of a still challenging diagnosis.

Author

Magri F, Brusa R, Bello L, Peverelli L, Del Bo R, Govoni A, Cinnante C, Colombo I, Fortunato F, Tironi R, Corti S, Grimoldi N, Sciacco M, Bresolin N, Pegoraro E, Moggio M, and Comi GP

Subjects
Adult, Aged, Female, Humans, Italy, Male, Middle Aged, Muscular Dystrophies, Limb-Girdle complications, Pedigree, Laminin genetics, Muscular Dystrophies, Limb-Girdle diagnosis, Muscular Dystrophies, Limb-Girdle genetics, Mutation genetics
Abstract

Mutations in LAMA2 gene, encoding merosin, are generally responsible of a severe congenital-onset muscular dystrophy (CMD type 1A) characterized by severe weakness, merosin absence at muscle analysis and white matter alterations at brain Magnetic Resonance Imaging (MRI). Recently, LAMA2 mutations have been acknowledged as responsible of LGMD R23, despite only few cases with slowly progressive adult-onset and partial merosin deficiency have been reported. We describe 5 independent Italian subjects presenting with progressive limb girdle muscular weakness, brain white matter abnormalities, merosin deficiency and LAMA2 gene mutations. We detected 7 different mutations, 6 of which are new. All patients showed normal psicomotor development and slowly progressive weakness with onset spanning from childhood to forties. Creatin-kinase levels were moderately elevated. One patient showed dilated cardiomyopathy. Muscle MRI allowed to evaluate the degree and pattern of muscular involvement in all patients. Brain MRI was fundamental in order to address and/or support the molecular diagnosis, showing typical widespread white matter hyperintensity in T2-weighted sequences. Interestingly these alterations were associated with central nervous system involvement in 3 patients who presented epilepsy and migraine. Muscle biopsy commonly but not necessarily revealed dystrophic features. Western-blot was usually more accurate than immunohystochemical analysis in detecting merosin deficiency. The description of these cases further enlarges the clinical spectrum of LAMA2 -related disorders. Moreover, it supports the inclusion of LGMD R23 in the new classification of LGMD. The central nervous system involvement was fundamental to address the diagnosis and should be always included in the diagnostic work-up of undiagnosed LGMD., (©2020 Gaetano Conte Academy - Mediterranean Society of Myology, Naples, Italy.)

Published
2020
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