Successful long-term bilateral subthalamic nucleus deep brain stimulation in VPS35 Parkinson's disease

Fleury, Vanessa; Wider, Christian; Horváth, Judit; Zacharia, André; Bally, Julien; Pollak, Pierre; Pollo, Claudio; Vingerhoets, François; Burkhard, Pierre

doi:10.1016/j.parkreldis.2013.04.002

Cited by 8 publications

(10 citation statements)

References 5 publications

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“…At the shorter follow‐up (n = 2), the improvement was marked (76%) or satisfactory (36%) . Satisfactory improvement was still seen at intermediate and longer term follow‐up: 37.1% at 5 years and 43.8% at 8 years, respectively. LEDD was largely reduced in 1 study by around 70% (including at longer term), and decreased by 30.3% (at 1 year) and 19.2% (at 5 years) in the other study …”

Section: Resultsmentioning

confidence: 94%

“…In 1 study, no side‐effects were observed, and the increased frequency of freezing episodes and falls after surgery were considered likely related to LEDD reduction rather than a deleterious effect of STN‐DBS in gait …”

Section: Resultsmentioning

confidence: 99%

“…The 25 articles included reported 151 patients with PD‐related mutations (2 patients are represented twice in Angeli and colleagues); from which 135 patients were included in the outcome analysis. The selected articles included PRKN , LRRK2 , Phosphatase and tensin homolog ( PTEN )‐induced putative kinase 1 ( PINK1 ), GBA , alpha‐synuclein ( SNCA ) and retromer complex component ( VPS35 ) mutations in addition to chromosome 22q11.2 microdeletion. Age at onset ranged from 10 to 57 years old, and the duration of disease at DBS implant ranged from 4 to 45 years .…”

Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

“…A total of 3 patients with the VPS35 mutation underwent STN‐DBS and were followed for 1 to 8 years . At the shorter follow‐up (n = 2), the improvement was marked (76%) or satisfactory (36%) . Satisfactory improvement was still seen at intermediate and longer term follow‐up: 37.1% at 5 years and 43.8% at 8 years, respectively.…”

Section: Resultsmentioning

confidence: 99%

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Deep Brain Stimulation in Patients With Mutations in Parkinson's Disease–Related Genes: A Systematic Review

Oliveira

Barbosa

Aquino

et al. 2019

Movement Disord Clin Pract

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Background Background: Deep brain stimulation (DBS) is an effective treatment for Parkinson's disease (PD), and careful selection of candidates is a key component of successful therapy. Although it is recognized that factors such as age, disease duration, and levodopa responsiveness can influence outcomes, it is unclear whether genetic background should also serve as a parameter. Objectives Objectives: The aim of this systematic review is to explore studies that have evaluated DBS in patients with mutations in PD-related genes. Methods Methods: We performed a selective literature search for articles regarding the effects of DBS in autosomal dominant or recessive forms of PD or in PD patients with genetic risk factors. Data regarding changes in motor and nonmotor scores and the presence of adverse events after the stimulation were collected. ResultsResults: A total of 25 studies were included in the systematic review, comprising 135 patients. In the shorter term, most patients showed marked or satisfactory response to subthalamic DBS, although leucine rich repeat kinase 2 carriers of R114G mutations had higher rates of unsatisfactory outcome. Longer term follow-up data were scarce but suggested that motor benefit is sustained. Patients with the glucosidase beta acid (GBA) mutation showed higher rates of cognitive decline after surgery. Motor outcome was scarce for pallidal DBS. Few adverse events were reported. Conclusions Conclusions: Subthalamic DBS results in positive outcomes in the short term in patients with Parkin, GBA, and leucine-rich repeat kinase 2 (non-R144G) mutations, although the small sample size limits the interpretation of our findings. Longer and larger cohorts of follow-up, with broader nonmotor symptom evaluations will be necessary to better customize DBS therapy in this population.

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Section: Resultsmentioning

confidence: 94%

Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

See 3 more Smart Citations

Deep Brain Stimulation in Patients With Mutations in Parkinson's Disease–Related Genes: A Systematic Review

Oliveira

Barbosa

Aquino

et al. 2019

Movement Disord Clin Pract

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Motor and Non‐motor Outcomes of Deep Brain Stimulation across the Genetic Panorama of Parkinson's Disease: A Multi‐Scale Meta‐Analysis

Asimakidou,

Xiromerisiou,

Sidiropoulos

2024

Movement Disord Clin Pract

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BackgroundIn the era of modern medicine, where high‐throughput sequencing techniques are readily available, it is desirable to elucidate the role of genetic background in patients with Parkinson's Disease (PD) undergoing Deep Brain Stimulation (DBS). Genetic stratification of PD patients undergoing DBS may assist in patient selection and prediction of clinical outcomes and complement existing selection procedures such as levodopa challenge testing.ObjectiveTo capture a broad spectrum of motor and non‐motor DBS outcomes in genetic PD patients with data from the recently updated literature.MethodsA multi‐scale meta‐analysis with 380 genetic PD cases was conducted using the Cochrane Review Manager, JASP software and R.ResultsThis meta‐analysis revealed that overall, patients with genetic PD are good candidates for DBS but the outcomes might differ depending on the presence of specific mutations. PRKN carriers benefited the most regarding motor function, daily dose medication and motor complications. However, GBA carriers appeared to be more prone to cognitive decline after subthalamic nucleus DBS accompanied by a low quality of life with variable severity depending on genetic variants and concomitant alterations in other genes. Apart from GBA, cognitive worsening was also observed in SNCA carriers. Pre‐operative levodopa responsiveness and a younger age of onset are associated with a favorable motor outcome.ConclusionA personalized approach with a variant‐based risk stratification within the emerging field of surgicogenomics is needed. Integration of polygenic risk scores in clinical‐decision making should be encouraged.

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Deep brain stimulation for monogenic Parkinson’s disease: a systematic review

et al. 2019

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Deep brain stimulation (DBS) is an effective treatment for Parkinson's disease (PD) patients with motor fluctuations and dyskinesias. The key DBS efficacy studies were performed in PD patients with unknown genotypes; however, given the estimated monogenic mutation prevalence of approximately 5-10%, most commonly LRRK2, PRKN, PINK1 and SNCA, and risk-increasing genetic factors such as GBA, proper characterization is becoming increasingly relevant. We performed a systematic review of 46 studies that reported DBS effects in 221 genetic PD patients. The results suggest that monogenic PD patients have variable DBS benefit depending on the mutated gene. Outcome appears excellent in patients with the most common LRRK2 mutation, p.G2019S, and good in patients with PRKN mutations but poor in patients with the more rare LRRK2 p.R1441G mutation. The overall benefit of DBS in SNCA, GBA and LRRK2 p.T2031S mutations may be compromised due to rapid progression of cognitive and neuropsychiatric symptoms. In the presence of other mutations, the motor changes in DBS-treated monogenic PD patients appear comparable to those of the general PD population.

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Successful long-term bilateral subthalamic nucleus deep brain stimulation in VPS35 Parkinson's disease

Cited by 8 publications

References 5 publications

Deep Brain Stimulation in Patients With Mutations in Parkinson's Disease–Related Genes: A Systematic Review

Deep Brain Stimulation in Patients With Mutations in Parkinson's Disease–Related Genes: A Systematic Review

Motor and Non‐motor Outcomes of Deep Brain Stimulation across the Genetic Panorama of Parkinson's Disease: A Multi‐Scale Meta‐Analysis

Deep brain stimulation for monogenic Parkinson’s disease: a systematic review

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