Fabiana Colucci, Micol Avenali, Rosita De Micco, Marco Fusar Poli, Silvia Cerri, Mario Stanziano, Ana Bacila, Giada Cuconato, Valentina Franco, Diego Franciotta, Cristina Ghezzi, Matteo Gastaldi, Antonio Emanuele Elia, Luigi Romito, Grazia Devigili, Valentina Leta, Barbara Garavaglia, Nico Golfrè Andreasi, Federico Cazzaniga, Chiara Reale, Caterina Galandra, Giancarlo Germani, Pierfrancesco Mitrotti, Gerardo Ongari, Ilaria Palmieri, Marta Picascia, Anna Pichiecchio, Mattia Verri, Fabrizio Esposito, Mario Cirillo, Federica Di Nardo, Simone Aloisio, Mattia Siciliano, Sara Prioni, Paolo Amami, Sylvie Piacentini, Maria Grazia Bruzzone, Marina Grisoli, Fabio Moda, Roberto Eleopra, Alessandro Tessitore, Enza Maria Valente, Roberto Cilia
BACKGROUND: Heterozygous mutations in the GBA gene, encoding the lysosomal enzyme β-glucocerebrosidase (GCase), are the most frequent genetic risk factor for Parkinson's disease (PD). GBA -related PD (GBA-PD) patients have higher risk of dementia and reduced survival than non-carriers. Preclinical studies and one open-label trial in humans demonstrated that the chaperone ambroxol (ABX) increases GCase levels and modulates α-synuclein levels in the blood and cerebrospinal fluid (CSF)...
2023: BMJ neurology open