| Title: |
Are patients with GBA-Parkinson disease good candidates for deep brain stimulation? A longitudinal multicentric study on a large Italian cohort |
| Authors: |
Avenali, M.; Zangaglia, R.; Cuconato, G.; Palmieri, I.; Albanese, A.; Artusi, C. A.; Bozzali, M.; Calandra-Buonaura, G.; Cavallieri, F.; Cilia, R.; Cocco, A.; Cogiamanian, F.; Colucci, F.; Cortelli, P.; Di Fonzo, A.; Eleopra, R.; Giannini, G.; Imarisio, A.; Imbalzano, G.; Ledda, C.; Lopiano, L.; Malaguti, M. C.; Mameli, F.; Minardi, R.; Mitrotti, P.; Monfrini, E.; Spagnolo, F.; Tassorelli, C.; Valentino, F.; Valzania, F.; Pacchetti, C.; Valente, E. M. |
| Contributors: |
Avenali, M.; Zangaglia, R.; Cuconato, G.; Palmieri, I.; Albanese, A.; Artusi, C. A.; Bozzali, M.; Calandra-Buonaura, G.; Cavallieri, F.; Cilia, R.; Cocco, A.; Cogiamanian, F.; Colucci, F.; Cortelli, P.; Di Fonzo, A.; Eleopra, R.; Giannini, G.; Imarisio, A.; Imbalzano, G.; Ledda, C.; Lopiano, L.; Malaguti, M. C.; Mameli, F.; Minardi, R.; Mitrotti, P.; Monfrini, E.; Spagnolo, F.; Tassorelli, C.; Valentino, F.; Valzania, F.; Pacchetti, C.; Valente, E. M. |
| Publication Year: |
2023 |
| Collection: |
Università degli Studi di Verona: Catalogo dei Prodotti della Ricerca (IRIS) |
| Subject Terms: |
COGNITION; ELECTRICAL STIMULATION; NEUROGENETICS; NEUROSURGERY; PARKINSON'S DISEASE |
| Description: |
Background: GBA 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. Objective: To elucidate the impact of GBA variants on long-term DBS outcome in a large Italian cohort. Methods: We 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. Results: We 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. Conclusions: Evaluation 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. |
| Document Type: |
article in journal/newspaper |
| Language: |
English |
| Relation: |
info:eu-repo/semantics/altIdentifier/pmid/37879897; info:eu-repo/semantics/altIdentifier/wos/WOS:001091225700001; volume:95; issue:4; firstpage:309; lastpage:315; numberofpages:7; journal:JOURNAL OF NEUROLOGY, NEUROSURGERY AND PSYCHIATRY; https://hdl.handle.net/11562/1181274 |
| DOI: |
10.1136/jnnp-2023-332387 |
| Availability: |
https://hdl.handle.net/11562/1181274; https://doi.org/10.1136/jnnp-2023-332387 |
| Rights: |
info:eu-repo/semantics/openAccess ; license:Dominio pubblico ; license uri:http://creativecommons.org/publicdomain/zero/1.0/ |
| Accession Number: |
edsbas.3C0F2B31 |
| Database: |
BASE |