GBA-Related Parkinson's Disease: Dissection of Genotype-Phenotype Correlates in a Large Italian Cohort

Simona Petrucci, Monia Ginevrino, Ilaria Trezzi, Edoardo Monfrini, Lucia Ricciardi, Alberto Albanese, Micol Avenali, Paolo Barone, Anna Rita Bentivoglio, Vincenzo Bonifati, Francesco Bove, Laura Bonanni, Livia Brusa, Cristina Cereda, Giovanni Cossu, Chiara Criscuolo, Giovanna Dati, Anna De Rosa, Roberto Eleopra, Giovanni FabbriniLaura Fadda, Manuela Garbellini, Brigida Minafra, Marco Onofrj, Claudio Pacchetti, Ilaria Palmieri, Maria Teresa Pellecchia, Martina Petracca, Marina Picillo, Antonio Pisani, Annamaria Vallelunga, Roberta Zangaglia, Alessio Di Fonzo, Francesca Morgante, Enza Maria Valente

Research output: Contribution to journalArticlepeer-review


BACKGROUND: Variants in GBA are the most common genetic risk factor for Parkinson's disease (PD). The impact of different variants on the PD clinical spectrum is still unclear.

OBJECTIVES: We determined the frequency of GBA-related PD in Italy and correlated GBA variants with motor and nonmotor features and their occurrence over time.

METHODS: Sanger sequencing of the whole GBA gene was performed. Variants were classified as mild, severe, complex, and risk. β-glucocerebrosidase activity was measured. The Kaplan-Meier method and Cox proportional hazard regression models were performed.

RESULTS: Among 874 patients with PD, 36 variants were detected in 14.3%, including 20.4% early onset. Patients with GBA-PD had earlier and more frequent occurrence of several nonmotor symptoms. Patients with severe and complex GBA-PD had the highest burden of symptoms and a higher risk of hallucinations and cognitive impairment. Complex GBA-PD had the lowest β-glucocerebrosidase activity.

CONCLUSIONS: GBA-PD is highly prevalent in Italy. Different types of mutations underlie distinct phenotypic profiles. © 2020 International Parkinson and Movement Disorder Society.

Original languageEnglish
Pages (from-to)2106-1
Number of pages6
JournalMovement Disorders
Issue number11
Publication statusPublished - Nov 13 2020


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