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

doi:10.1002/mdc3.70334

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Article

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

Movement disorders clinical practice - 1 Feb 2026

Di Rauso Giulia, Ghibellini Alessandro, Grisanti Sara, Fioravanti Valentina, Monfrini Edoardo, Toschi Giulia, Portaro Giacomo, Argenziano Giacomo, Bacchin Ruggero, Rossi Jessica, Sabadini Rossella, Ferrari Valeria, Melpignano Andrea, Pacillo Francesca, Scarano Maria, Groppi Anna, Gherardini Luca, Lucchi Chiara, Biagini Giuseppe, Montepietra Sara, Malaguti Maria Chiara, Campanini Isabella, Merlo Andrea, Castellucci Andrea, Ghidini Angelo, Fraternali Alessandro, Versari Annibale, Scaglioni Augusto, Paul Jefri J, Bononi Luciano, Gabbrielli Maurizio, Di Fonzo Alessio, Bauer Peter, Cavallieri Francesco, Valzania Franco

Abstract excerpt

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) model capable of...

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PMID: 40922551
DOI: 10.1002/mdc3.70334
PMCID: PMC12911450

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GBA1

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