Are patients with GBA-Parkinson disease good candidates for deep brain stimulation? A longitudinal multicentric study on a large Italian cohort
© 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..
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.
| Medienart: |
E-Artikel |
|---|
| Erscheinungsjahr: |
2024 |
|---|---|
| Erschienen: |
2024 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:95 |
|---|---|
| Enthalten in: |
Journal of neurology, neurosurgery, and psychiatry - 95(2024), 4 vom: 13. März, Seite 309-315 |
| Sprache: |
Englisch |
|---|
| Links: |
|---|
| Themen: |
COGNITION |
|---|
| Anmerkungen: |
Date Completed 15.03.2024 Date Revised 24.03.2024 published: Electronic Citation Status MEDLINE |
|---|
| doi: |
10.1136/jnnp-2023-332387 |
|---|
| funding: |
|
|---|---|
| Förderinstitution / Projekttitel: |
|
| PPN (Katalog-ID): |
NLM363721061 |
|---|
| LEADER | 01000caa a22002652 4500 | ||
|---|---|---|---|
| 001 | NLM363721061 | ||
| 003 | DE-627 | ||
| 005 | 20240324234833.0 | ||
| 007 | cr uuu---uuuuu | ||
| 008 | 231226s2024 xx |||||o 00| ||eng c | ||
| 024 | 7 | |a 10.1136/jnnp-2023-332387 |2 doi | |
| 028 | 5 | 2 | |a pubmed24n1344.xml |
| 035 | |a (DE-627)NLM363721061 | ||
| 035 | |a (NLM)37879897 | ||
| 040 | |a DE-627 |b ger |c DE-627 |e rakwb | ||
| 041 | |a eng | ||
| 100 | 1 | |a Avenali, Micol |e verfasserin |4 aut | |
| 245 | 1 | 0 | |a Are patients with GBA-Parkinson disease good candidates for deep brain stimulation? A longitudinal multicentric study on a large Italian cohort |
| 264 | 1 | |c 2024 | |
| 336 | |a Text |b txt |2 rdacontent | ||
| 337 | |a ƒaComputermedien |b c |2 rdamedia | ||
| 338 | |a ƒa Online-Ressource |b cr |2 rdacarrier | ||
| 500 | |a Date Completed 15.03.2024 | ||
| 500 | |a Date Revised 24.03.2024 | ||
| 500 | |a published: Electronic | ||
| 500 | |a Citation Status MEDLINE | ||
| 520 | |a © 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. | ||
| 520 | |a 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 | ||
| 520 | |a OBJECTIVE: To elucidate the impact of GBA variants on long-term DBS outcome in a large Italian cohort | ||
| 520 | |a 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 | ||
| 520 | |a 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 | ||
| 520 | |a 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 | ||
| 650 | 4 | |a Multicenter Study | |
| 650 | 4 | |a Journal Article | |
| 650 | 4 | |a COGNITION | |
| 650 | 4 | |a ELECTRICAL STIMULATION | |
| 650 | 4 | |a NEUROGENETICS | |
| 650 | 4 | |a NEUROSURGERY | |
| 650 | 4 | |a PARKINSON'S DISEASE | |
| 700 | 1 | |a Zangaglia, Roberta |e verfasserin |4 aut | |
| 700 | 1 | |a Cuconato, Giada |e verfasserin |4 aut | |
| 700 | 1 | |a Palmieri, Ilaria |e verfasserin |4 aut | |
| 700 | 1 | |a Albanese, Alberto |e verfasserin |4 aut | |
| 700 | 1 | |a Artusi, Carlo Alberto |e verfasserin |4 aut | |
| 700 | 1 | |a Bozzali, Marco |e verfasserin |4 aut | |
| 700 | 1 | |a Calandra-Buonaura, Giovanna |e verfasserin |4 aut | |
| 700 | 1 | |a Cavallieri, Francesco |e verfasserin |4 aut | |
| 700 | 1 | |a Cilia, Roberto |e verfasserin |4 aut | |
| 700 | 1 | |a Cocco, Antoniangela |e verfasserin |4 aut | |
| 700 | 1 | |a Cogiamanian, Filippo |e verfasserin |4 aut | |
| 700 | 1 | |a Colucci, Fabiana |e verfasserin |4 aut | |
| 700 | 1 | |a Cortelli, Pietro |e verfasserin |4 aut | |
| 700 | 1 | |a Di Fonzo, Alessio |e verfasserin |4 aut | |
| 700 | 1 | |a Eleopra, Roberto |e verfasserin |4 aut | |
| 700 | 1 | |a Giannini, Giulia |e verfasserin |4 aut | |
| 700 | 1 | |a Imarisio, Alberto |e verfasserin |4 aut | |
| 700 | 1 | |a Imbalzano, Gabriele |e verfasserin |4 aut | |
| 700 | 1 | |a Ledda, Claudia |e verfasserin |4 aut | |
| 700 | 1 | |a Lopiano, Leonardo |e verfasserin |4 aut | |
| 700 | 1 | |a Malaguti, Maria Chiara |e verfasserin |4 aut | |
| 700 | 1 | |a Mameli, Francesca |e verfasserin |4 aut | |
| 700 | 1 | |a Minardi, Raffaella |e verfasserin |4 aut | |
| 700 | 1 | |a Mitrotti, Pierfrancesco |e verfasserin |4 aut | |
| 700 | 1 | |a Monfrini, Edoardo |e verfasserin |4 aut | |
| 700 | 1 | |a Spagnolo, Francesca |e verfasserin |4 aut | |
| 700 | 1 | |a Tassorelli, Cristina |e verfasserin |4 aut | |
| 700 | 1 | |a Valentino, Francesca |e verfasserin |4 aut | |
| 700 | 1 | |a Valzania, Franco |e verfasserin |4 aut | |
| 700 | 1 | |a Pacchetti, Claudio |e verfasserin |4 aut | |
| 700 | 1 | |a Valente, Enza Maria |e verfasserin |4 aut | |
| 700 | 0 | |a PARKNET Study Group |e verfasserin |4 aut | |
| 773 | 0 | 8 | |i Enthalten in |t Journal of neurology, neurosurgery, and psychiatry |d 1944 |g 95(2024), 4 vom: 13. März, Seite 309-315 |w (DE-627)NLM00005190X |x 1468-330X |7 nnns |
| 773 | 1 | 8 | |g volume:95 |g year:2024 |g number:4 |g day:13 |g month:03 |g pages:309-315 |
| 856 | 4 | 0 | |u http://dx.doi.org/10.1136/jnnp-2023-332387 |3 Volltext |
| 912 | |a GBV_USEFLAG_A | ||
| 912 | |a GBV_NLM | ||
| 951 | |a AR | ||
| 952 | |d 95 |j 2024 |e 4 |b 13 |c 03 |h 309-315 | ||