• Micol Avenali, Roberta Zangaglia, Giada Cuconato, Ilaria Palmieri, Alberto Albanese, Carlo Alberto Artusi, Marco Bozzali, Giovanna Calandra-Buonaura, Francesco Cavallieri, Roberto Cilia, Antoniangela Cocco, Filippo Cogiamanian, Fabiana Colucci, Pietro Cortelli, Alessio Di Fonzo, Roberto Eleopra, Giulia Giannini, Alberto Imarisio, Gabriele Imbalzano, Claudia Ledda, Leonardo Lopiano, Maria Chiara Malaguti, Francesca Mameli, Raffaella Minardi, Pierfrancesco Mitrotti, Edoardo Monfrini, Francesca Spagnolo, Cristina Tassorelli, Francesca Valentino, Franco Valzania, Claudio Pacchetti, Enza Maria Valente, and PARKNET Study Group.
• Department of Brain and Behavioural Sciences, University of Pavia, Pavia, Italy.
• J. Neurol. Neurosurg. Psychiatr. 2024 Mar 13; 95 (4): 309315309-315.

BackgroundGBA variants increase the risk of developing Parkinson disease (PD) and influence its outcome. Deep brain stimulation (DBS) is a recognised therapeutic option for advanced PD. Data on DBS long-term outcome in GBA carriers are scarce.ObjectiveTo elucidate the impact of GBA variants on long-term DBS outcome in a large Italian cohort.MethodsWe retrospectively recruited a multicentric Italian DBS-PD cohort and assessed: (1) GBA prevalence; (2) pre-DBS clinical features; and (3) outcomes of motor, cognitive and other non-motor features up to 5 years post-DBS.ResultsWe included 365 patients with PD, of whom 73 (20%) carried GBA variants. 5-year follow-up data were available for 173 PD, including 32 mutated subjects. GBA-PD had an earlier onset and were younger at DBS than non-GBA-PD. They also had shorter disease duration, higher occurrence of dyskinesias and orthostatic hypotension symptoms.At post-DBS, both groups showed marked motor improvement, a significant reduction of fluctuations, dyskinesias and impulsive-compulsive disorders (ICD) and low occurrence of most complications. Only cognitive scores worsened significantly faster in GBA-PD after 3 years. Overt dementia was diagnosed in 11% non-GBA-PD and 25% GBA-PD at 5-year follow-up.ConclusionsEvaluation of long-term impact of GBA variants in a large Italian DBS-PD cohort supported the role of DBS surgery as a valid therapeutic strategy in GBA-PD, with long-term benefit on motor performance and ICD. Despite the selective worsening of cognitive scores since 3 years post-DBS, the majority of GBA-PD had not developed dementia at 5-year follow-up.© Author(s) (or their employer(s)) 2024. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ.

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