Artificial Intelligence Predicts <scp> <i>GBA1</i> </scp> Mutated Status in Parkinson's Disease Patients
This study underlies the potential of AI in enhancing targeted genetic screening in PD, especially in clinical settings where resources are limited. Main limitations of this study are the modest sample size and lack of external validation. Further studies on larger, independent cohorts are needed to refine the predictive model.
Authors
- Giulia Di Rauso (ORCID: https://orcid.org/0000-0001-7159-9311)
- Andrea Melpignano
- Ruggero Bacchin
- Giulia Toschi (ORCID: https://orcid.org/0009-0003-1987-0495)
- Francesco Cavallieri (ORCID: https://orcid.org/0000-0001-5836-1982)
- Chiara Lucchi (ORCID: https://orcid.org/0000-0003-0965-2948)
- Maria I. Scarano
- Alessandro Ghibellini
- Franco Valzania (ORCID: https://orcid.org/0000-0003-4887-1692)
- Andrea Castellucci (ORCID: https://orcid.org/0000-0003-2874-5672)
- Maurizio Gabbrielli (ORCID: https://orcid.org/0000-0003-0609-8662)
- S. Grisanti (ORCID: https://orcid.org/0000-0002-7892-1788)
- Luca Gherardini (ORCID: https://orcid.org/0000-0002-7147-0734)
- Valentina Fioravanti (ORCID: https://orcid.org/0009-0003-4631-8591)
- Annibale Versari (ORCID: https://orcid.org/0000-0002-8675-2435)
- Sara Montepietra
- Angelo Ghidini (ORCID: https://orcid.org/0000-0002-4117-1901)
- Isabella Campanini (ORCID: https://orcid.org/0000-0002-9286-6711)
- Edoardo Monfrini (ORCID: https://orcid.org/0000-0003-4720-9234)
- Giuseppe Biagini (ORCID: https://orcid.org/0000-0002-7130-2511)
- Jessica Rossi (ORCID: https://orcid.org/0000-0002-1856-7422)
- Valeria Ferrari (ORCID: https://orcid.org/0000-0002-6309-9613)
- Alessio Di Fonzo (ORCID: https://orcid.org/0000-0001-6478-026X)
- Alessandro Fraternali
- Luciano Bononi (ORCID: https://orcid.org/0000-0002-3460-6452)
- Giacomo Argenziano (ORCID: https://orcid.org/0000-0002-4491-7318)
- Francesca Pacillo
- Rossella Sabadini
- Andrea Merlo (ORCID: https://orcid.org/0000-0002-5587-5686)
- Maria Chiara Malaguti (ORCID: https://orcid.org/0000-0002-4807-4063)
- Peter Bauer (ORCID: https://orcid.org/0000-0001-9414-4555)
- Giacomo Portaro (ORCID: https://orcid.org/0009-0005-7594-7826)
- Jefri J Paul
- Augusto Scaglioni
- Anna Groppi
Institutions
- University of Modena and Reggio Emilia (IT)
- University of Milan (IT)
- Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico (IT)
- Ospedale Maggiore (IT)
- Ospedale Santa Chiara (IT)
- Azienda Unita' Sanitaria Locale Di Modena (IT)
- Azienda Sanitaria Unità Locale di Reggio Emilia (IT)
- Don Carlo Gnocchi Foundation (IT)
- Presidio Ospedaliero (IT)
- Centogene (Germany) (DE)
- Istituti di Ricovero e Cura a Carattere Scientifico (IT)
- Pro Persona (NL)
- Ferrari (Italy) (IT)
- University of Bologna (IT)
Publication Details
- Journal
- Movement Disorders Clinical Practice
- Published
- 2025-09-08
- DOI
- https://doi.org/10.1002/mdc3.70334
- Citations
- 2
- Primary Topic
- Lysosomal Storage Disorders Research
- Type
- article
- Field-Weighted Citation Impact
- 2.33
Funders
- Ministero della Salute