Health AI Central
Peer-Reviewed Publication
Mov Disord Clin Pract2026;13(2):482-493.February 1, 2026Journal Article

Artificial Intelligence Predicts GBA1 Mutated Status in Parkinson's Disease Patients.

Giulia Di Rauso1,2, Alessandro Ghibellini3, Sara Grisanti2, Valentina Fioravanti1, Edoardo Monfrini4,5, Giulia Toschi1, Giacomo Portaro1, Giacomo Argenziano1, Ruggero Bacchin6, Jessica Rossi1,2, Rossella Sabadini1, Valeria Ferrari1, Andrea Melpignano7, Francesca Pacillo7, Maria Scarano8, Anna Groppi1, Luca Gherardini9, Chiara Lucchi10, Giuseppe Biagini10, Sara Montepietra1, Maria Chiara Malaguti6, Isabella Campanini11, Andrea Merlo11, Andrea Castellucci12, Angelo Ghidini12, Alessandro Fraternali13, Annibale Versari13, Augusto Scaglioni14, Jefri J Paul15, Luciano Bononi3, Maurizio Gabbrielli3, Alessio Di Fonzo4, Peter Bauer15, Francesco Cavallieri1, Franco Valzania1
1Neurology Unit, Neuromotor and Rehabilitation Department, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy.
2Clinical and Experimental Medicine PhD Program, University of Modena and Reggio Emilia, Modena, Italy.
3Department of Computer Science and Engineering, Alma Mater Studiorum-University of Bologna, Italy.
4Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, Neurology Unit, Milan, Italy.
5Dino Ferrari Center, Neuroscience Section, Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy.
6Neurology Unit, Santa Chiara Hospital, Trento, Italy.
7Presidio Ospedaliero Fidenza AUSL Parma, Fidenza, Italy.
8Dipartimento di Cure Primarie, Azienda Unità Sanitaria Locale (AUSL) Modena, Modena, Italy.
9Sano centre for computational personalised medicine, Personal Health Data Science Team, Krakow, Poland.
10Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, Modena, Italy.
11LAM-Motion Analysis Laboratory, Neuromotor and Rehabilitation Department, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy.
12Otolaryngology Unit, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy.
13Nuclear Medicine Unit, Azienda Unità Sanitaria Locale-IRCCS of Reggio Emilia, Reggio Emilia, Italy.
14Centro S. Maria ai Servi, Fondazione Don Gnocchi, Parma, Italy.
15CENTOGENE GmbH, Rostock, Germany.
PubMed PMC DOI PDF

Abstract

BACKGROUND: GBA1 variants are the major genetic risk factor for Parkinson's Disease (PD) and account for 5-30% of PD cases depending on the population and age at onset of the disease. OBJECTIVES: The aim of this study was to assess whether Artificial Intelligence (AI) could predict GBA1-mutated genotype in PD (GBA1-PD). Particularly, the main objective was to identify a Machine Learning (ML) mode…

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