Accès ouvert déclaré
2025
article
Unraveling the role of GBA1 genotype in axial signs response to subthalamic deep brain stimulation
Francesco Bove, Danilo Genovese, Alessandro De Biase, Alberto Albanese, Angelo Antonini, Carlo Alberto Artusi, Luca Baldelli, Giovanna Calandra-Buonaura, Niccolò Casasoli, Francesco Cavallieri, Antoniangela Cocco, Fabiana Colucci, Francesca Di Biasio, Valentina D’Onofrio, Valentina Fioravanti, Nico Golfrè Andreasi, Andrea Guerra, Gabriele Imbalzano, Alessandro Izzo, Claudia Ledda, Marco Liccari, Leonardo Lopiano, Maria Chiara Malaguti, Luigi Romito, Enza Maria Valente, Franco Valzania, Roberta Zangaglia, Carlo Caltagirone, Alberto Costa, Federica Giardina, Antonella Peppe, Clelia Pellicano, Francesco E. Pontieri, Fabrizio Piras, Francesca Sommaruga, Giulia Maria Sancesario, Silvia Zabberoni, Francesca De Giorgi, Grazia Devigili, Antonio Emanuele Elia, Barbara Garavaglia, Giorgio Giaccone, Marina Grisoli, Valentina Leta, Fabio Moda, B. Reggiori, Irene Tramacere, Roberto Bergamaschi, Roberta Calabrese, Silvia Cerri, Giuseppe Cosentino, Giada Cuconato, Roberto De Icco, Caterina Galandra, Claudio Pacchetti, Ilaria Palmieri, Marta Picascia, A. Pichiecchio, Antonio Pisani, Francesca Valentino, R. Zangaglia, Cristina Agliardi, Francesca Baglio, Antonio Caronni, Fabio Guerini, Roberta Mancuso, Andrea Mannini, Mario Meloni, Francesca Lea Saibene, Sandro Sorbi, Federica Vannetti, Andrea Ciammola, Luca Maderna, Barbara Poletti, Antonia Ratti, Vincenzo Silani, Nicola Ticozzi, Fabio Triulzi, Federico Verde, Giuliano Zebellin, Federica Agosta, Stefano Amadio, Vania Broccoli, Rosalinda Cardamone, M. Filippi, S Galantucci, Luigi Gianolli, Marco J. Morelli, Elisabetta Sarasso, J. Sassone, Mariarosa Terreni, Martina Volonté, Riccardo Bellazzi, Elisa Brigonzi, Mariachiara Buonocore, R. Campini, F. M. Cossa, Ermanno Federici, Michele Gennuso, Ernesto Losavio, Anna Losurdo, Christian Lunetta, G Maggioni, Alberto Malovini, C. Morasso, Maria Nolano, Eugenio Parati, Caterina Pistarini, Denise Martineli Rossi, Michele Terzaghi, G. Bonanno, Luca Boni, Cristina Campi, Elisabetta Capello, Giuseppina Ferrara, Andrea Gaudio, Giovanna Lagravinese, Paola Mandich, Roberta Marchese, Federico Massa, Silvia Morbelli, Flavio Nobili, Paola Origone, Edoardo Pelosin, Luca Roccatagliata, Lucia Trevisan, Antonietta Arcella, Giuseppe Battaglia, Daniele Belvisi, Alfredo Berardelli, Diego Centonze, Rosangela Ferese, Stefano Gambardella, Alessandro Gialluisi, Felice Giangaspero, Cristina Limatola, Nicola Modugno, Patrizia Pantano, L Pavone, Stefano Puglisi‐Allegra, Amelia Brigandì, Giuseppe Di Lorenzo, Viviana Lo Buono, Silvia Marino, Serena Silvestro, Chiara Sorbera, Stefano Bonassi, Francesco Brancati, Maria Francesca De Pandis, Barbara Picconi, P. M. Rossini, Fabrizio Stocchi, Laura Vacca, A. Albanese, Lidija Antunovic, A. Cocco, Tiziana De Santis, Roberto Gatti, Stefania Lalli, Eliana Lauranzano, M. Matteoli, Rossana Mineri, Elvezia Maria Paraboschi, Elena Perdixi, Letterio S. Politi, Paolo Polverino, Davide Pozzi, Giacomo Savini, Anna Rita Bentivoglio, Amelia Cimmino, Andrea De Biase, Giulia Di Lazzaro, Daniela Di Giuda, Maria Rita Lo Monaco, Martina Petracca, Francesco Danilo Tiziano, Maria Grazia Vita, Giorgio Arcara, Rita Barresi, Valeria Camparini, Paola Cudia, Giulio Ferrazzi, Konstantinos Koutsikos, Nicoletta Manzo, F. Pellizzari, Andrea Arighi, Fabio Blandini, Filippo Cogiamanian, Massimo Castellani, Francesco Colucci, M. Cribiù, Alessio Di Fonzo, Giulia Franco, Emanuele Frattini, C. Losa, Francesca Mameli, Edoardo Monfrini, Elisa Scola, Ilaria Trezzi, Maria Giulia Bacalini, Giovanna Calandra–Buonaura, Leonardo Caporali, Valério Carelli, Pietro Cortelli, Pietro Guaraldi, Giovanna Lopane, A. Fiorentino, F. Nonino, R. Pantieri, Piero Parchi, Federica Provini, Caterina Tonon, Luisa Sambati
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1Pays d’affiliation déclarés
Résumé fourni par la source
GBA1 variants represent the most common genetic risk factor for Parkinson's disease (PD) and are associated with higher risk of developing cognitive decline and axial motor impairment. While cognitive outcomes following subthalamic deep brain stimulation (STN-DBS) have recently received growing attention, axial signs progression remains poorly defined in this population. In this retrospective multicentric study, we analyzed a cohort of 353 PD patients who underwent bilateral STN-DBS surgery (75 GBA+ and 253 GBA-). 5-year follow-up data were available for 233 patients, including 43 mutated subjects. Lower off-medication UPDRS III score and levodopa responsiveness at baseline were identified as independent predictors of axial signs worsening after DBS, while GBA1 genotype was not identified as risk factor. The presence of GBA1 variants did not exert a detrimental effect on axial signs in PD patients up to five years following STN-DBS, supporting its consideration as a valid therapeutic option in this genetic subgroup.
Ce résumé expose les affirmations des auteurs. BNTIC ne l’interprète pas comme une validation indépendante des résultats.
Contrôle bibliographique ouvert
DOI retrouvé dans Crossref DOI retrouvé ; titre concordant.
- Titre Crossref
- Unraveling the role of GBA1 genotype in axial signs response to subthalamic deep brain stimulation
- Date Crossref
- 17/10/2025
- Éditeur
- Springer Science and Business Media LLC
- Type
- journal-article
Ce recoupement confirme des métadonnées liées au DOI. Il ne confirme ni la méthode ni les conclusions de l’étude et ne compte pas comme une seconde source scientifique indépendante.
Institutions déclarées
Une affiliation ne permet pas de déduire la nationalité d’un auteur.
Sujets associés
Neurological disorders and treatmentsParkinson's Disease Mechanisms and TreatmentsGenetic Neurodegenerative Diseases