Bilateral Posteroventral GPi-DBS in a Patient with Tourette's Syndrome - A Rapidly Effective But Under-utilized Therapy.
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ABSTRACT:
SUBMITTER: Onder H
PROVIDER: S-EPMC10645202 | biostudies-literature | 2023
REPOSITORIES: biostudies-literature
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Bilateral Posteroventral GPi-DBS in a Patient with Tourette's Syndrome - A Rapidly Effective But Under-utilized Therapy.
Onder Halil H Kertmen Hayri H Kocer Bilge B Ercan Elif E Comoglu Selcuk S
Annals of Indian Academy of Neurology 20230701 4
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Project description:Treatment outcomes from pallidal deep brain stimulation are highly heterogeneous reflecting the phenotypic and etiologic spectrum of dystonia. Treatment stratification to neurostimulation therapy primarily relies on the phenotypic motor presentation; however, etiology including genetic factors are increasingly recognized as modifiers of treatment outcomes. Here, we describe a 53 year-old female patient with a progressive generalized dystonia since age 25. The patient underwent deep brain stimulation of the globus pallidus internus (GPi-DBS) at age 44. Since the clinical phenotype included mobile choreo-dystonic features, we expected favorable therapeutic outcome from GPi-DBS. Although mobile dystonia components were slightly improved in the long-term outcome from GPi-DBS the overall therapeutic response 9 years from implantation was limited when comparing "stimulation off" and "stimulation on" despite of proper electrode localization and sufficient stimulation programming. In order to further understand the reason for this limited motor symptom response, we aimed to clarify the etiology of generalized dystonia in this patient. Genetic testing identified a novel heterozygous pathogenic SLC2A1 mutation as cause of glucose transporter type 1 deficiency syndrome (GLUT1-DS). This case report presents the first outcome of GPi-DBS in a patient with GLUT1-DS, and suggests that genotype relations may increasingly complement phenotype-based therapy stratification of GPi-DBS in dystonia.
| S-EPMC5988881 | biostudies-literature
Project description: Not available
| S-EPMC10941891 | biostudies-literature
Project description:IntroductionDeep brain stimulation (DBS) is an established and effective therapy for movement disorders. Here, we present a case of secondary myoclonus-dystonia syndrome following acute disseminated encephalomyelitis (ADEM) in childhood, which was alleviated by DBS. Using a patient-specific connectome analysis, we sought to characterise the fibres and circuits affected by stimulation.Case reportWe report a case of a 20-year-old man with progressive dystonia, myoclonic jerks, and impaired concentration following childhood ADEM. Motor assessments utilising the Unified Myoclonus Rating Scale (UMRS) and the Burke-Fahn-Marsden Dystonia Rating Scale (BFMDRS) revealed a greater improvement in dystonia compared to myoclonus following adjustments of DBS parameters. These adjustments were based on visualisation of electrode position and volume of tissue activated (VTA) 3 years after surgery. A patient-specific connectome analysis using the VTA as a region of interest revealed fibre tracts connecting to the cerebello-thalamo-cortical network and the superior frontal gyrus in addition to basal ganglia circuits as particularly effective.ConclusionGlobus pallidus internus (GPi) DBS shows promise as a treatment for secondary myoclonus-dystonia syndromes. Personalised structural considerations, tailored to individual symptoms and clinical characteristics, can provide significant benefits. Patient-specific connectome analysis, specifically, offers insights into the structures involved and may enable a favourable treatment response.
| S-EPMC10562570 | biostudies-literature
Project description:ObjectiveTo compare the efficacy in patients with different genotypes, identify the potential predictive factors, and summarize the complications of globus pallidus deep brain stimulation (GPi-DBS) treating early-onset dystonia.MethodsThree electronic databases (PubMed, Embase, and Cochrane databases) were searched with no publication data restriction. The primary outcomes were the improvements in Burke-Fahn-Marsden Dystonia Rating Scale motor (BFMDRS-M) and disability (BFMDRS-D) score. Pearson's correlation coefficients and a metaregression analysis were used to identify the potential predictive factors. This article was registered in Prospero (CRD42020188527).ResultsFifty-four studies (231 patients) were included. Patients showed significant improvement rate in BFMDRS-M (60.6%, p < 0.001) and BFMDRS-D (57.5%, p < 0.001) scores after treatment with GPi-DBS. BFMDRS-M score improved greater in the DYT-1-positive (p = 0.001) and DYT-11-positive (p = 0.008) patients compared to DYT-6-positive patients. BFMDRS-D score improved greater in the DYT-11 (+) compared to DYT-6 (+) patients (p = 0.010). The relative change of BFMDRS-M (p = 0.002) and BFMDRS-D (p = 0.010) scores was negatively correlated with preoperative BFMDRS-M score. In the metaregression analysis, the best predictive model showed that preoperative BFMDRS-M, disease duration (p = 0.047), and the age at symptom onset (p = 0.027) were important.ConclusionPatients with early-onset dystonia have a significant effect after GPi-DBS treatment, and DYT-1 (+) and DYT-11 (+) patients are better candidates for GPi-DBS. Lower preoperative score, later age of onset, and an earlier age at surgery probably predict better clinical outcomes.
| S-EPMC8121596 | biostudies-literature
Project description:Introduction: The clinical efficacy of deep brain stimulation (DBS) for midline tremor has been heterogenous. Here, we present an atypical case with facial and palatal tremor treated with DBS. We aimed to show the difference between the fibers affected by stimulation of the two targets [globus pallidus interna (GPi) and ventral intermediate (Vim) thalamic nucleus] using a normative connectome analysis. Case Report: A 76-year-old woman with a 4-year history of severe facial and palatal tremor due to craniofacial dystonia. Following a failed bilateral Vim DBS, explantation of preexisting leads and implantation of bilateral GPi leads resulted in the resolution of tremor symptoms following a failed bilateral Vim DBS. We performed a normative connectome analysis using the volume of tissue activated (VTA) as a region of interest. The results revealed that the fiber tracts associated with VTA of GPi DBS had connections with the facial area of the motor cortex while the Vim DBS did not. Conclusion: This case study suggests the possibility that GPi DBS may be considered for midline tremor, and that the normative connectome analysis may possibly offer clues as to the structures underpinning a positive response. We may refine targets for some of the more difficult to control symptoms such as the midline tremor in this case.
| S-EPMC8369152 | biostudies-literature
Project description:BackgroundEarly evidence suggests good response to pallidal deep brain stimulation (DBS) in DYT-KMT2B.ObjectivesWe aimed to conduct a systematic review and meta-analysis to assess outcomes and identify predictors of good outcome following GPi-DBS in DYT-KMT2B.MethodsWe searched MEDLINE, Cochrane and MDS-abstracts databases using the MeSH terms "KMT2B and DYT28". We included studies that reported objective outcomes following GPi-DBS in DYT-KMT2B. The BFMDRS-M (Burke-Fahn-Marsden Dystonia Rating Scale- Movement) total scores pre- and post-surgery were used to quantify outcomes. We calculated pooled effects using a random effects meta-analysis and used meta-regression to identify potential effect modifiers. Multiple linear regression using individual patient data was used to identify predictors of good outcome (>50% improvement from baseline on BFMDRS-M).ResultsInitial searches screened 132 abstracts of which 34 full-text articles were identified to be of potential interest. Ten studies reporting 42 individual patients, met the inclusion/exclusion criteria and were included in the final review. The mean age at onset was 6.4 ± 5.7 years and 40% were male. The median follow-up was 12 months (range: 1-264 months). GPi-DBS resulted in median BFMDRS-M improvement of 42.7% (range: -103.5% to 95.9%) postoperatively. Pooled proportion of patients experiencing clinical improvement >50% on BFMDRS-M was 41% (95% CI: 27%-57%). Male gender [β: 22.6, 95% CI: 8.0-37.3, P = 0.004), and higher pre-operative BFMDRS-M score [β: 0.62, 95% CI: 0.36-0.87, P < 0.001) were independently associated with better outcome.ConclusionKMT2B-associated dystonia responds effectively to pallidal stimulation. The outcome is better in males and those with more severe dystonia at baseline.
| S-EPMC8721835 | biostudies-literature
Project description: Not available
| S-EPMC10761383 | biostudies-literature
Project description:IntroductionDystonia is the third most common pediatric movement disorder and is often difficult to treat. Deep brain stimulation (DBS) of the internal pallidum (GPi) has been demonstrated as a safe and effective treatment for genetic dystonia in adolescents and adults. The results of DBS in children are limited to individual cases or case series, although it has been proven to be an effective procedure in carefully selected pediatric cohorts. The aim of our study was to present the treatment outcome for 7- to 9-year-old pediatric patients with disabling monogenic isolated generalized DYT-THAP1 and DYT-KMT2B dystonia after bilateral GPi-DBS.Patients and resultsWe present three boys aged <10 years; two siblings with disabling generalized DYT-THAP1 dystonia and a boy with monogenic-complex DYT-KMT2B. Dystonia onset occurred between the ages of 3 and 6. Significantly disabled children were mostly dependent on their parents. Pharmacotherapy was inefficient and patients underwent bilateral GPi-DBS. Clinical signs of dystonia improved significantly in the first month after the implantation and continued to maintain improved motor functions, which were found to have improved further at follow-up. These patients were ambulant without support and included in everyday activities. All patients had significantly lower Burke-Fahn-Marsden Dystonia Rating Scale (BFMDRS) values, indicating >25% improvement over the first 15 months. However, there was a decline in speech and upper limb function, manifesting with bradylalia, bradykinesia, and dysphonia, which decreased after treatment with trihexyphenidyl.ConclusionAlthough reports of patients with monogenic dystonia, particularly DYT-THAP1, treated with DBS are still scarce, DBS should be considered as an efficient treatment approach in children with pharmacoresistent dystonia, especially with generalized monogenic dystonia and to prevent severe and disabling symptoms that reduce the quality of life, including emotional and social aspects. Patients require an individual approach and parents should be properly informed about expectations and possible outcomes, including relapses and impairments, in addition to DBS responsiveness and related improvements. Furthermore, early genetic diagnosis and the provision of appropriate treatments, including DBS, are mandatory for preventing severe neurologic impairments.
| S-EPMC10166204 | biostudies-literature
Project description:ObjectiveTo study mood and behavioral effects of unilateral and staged bilateral subthalamic nucleus (STN) and globus pallidus internus (GPi) deep brain stimulation (DBS) for Parkinson's disease (PD).BackgroundThere are numerous reports of mood changes following DBS, however, most have focused on bilateral simultaneous STN implants with rapid and aggressive post-operative medication reduction.MethodsA standardized evaluation was applied to a subset of patients undergoing STN and GPi DBS and who were also enrolled in the NIH COMPARE study. The Unified Parkinson Disease Rating Scale (UPDRS III), the Hamilton depression (HAM-D) and anxiety rating scales (HAM-A), the Yale-Brown obsessive-compulsive rating scale (YBOCS), the Apathy Scale (AS), and the Young mania rating scale (YMRS) were used. The scales were repeated at acute and chronic intervals. A post-operative strategy of non-aggressive medication reduction was employed.ResultsThirty patients were randomized and underwent unilateral DBS (16 STN, 14 GPi). There were no baseline differences. The GPi group had a higher mean dopaminergic dosage at 1-year, however the between group difference in changes from baseline to 1-year was not significant. There were no differences between groups in mood and motor outcomes. When combining STN and GPi groups, the HAM-A scores worsened at 2-months, 4-months, 6-months and 1-year when compared with baseline; the HAM-D and YMRS scores worsened at 4-months, 6-months and 1-year; and the UPDRS Motor scores improved at 4-months and 1-year. Psychiatric diagnoses (DSM-IV) did not change. No between group differences were observed in the cohort of bilateral cases.ConclusionsThere were few changes in mood and behavior with STN or GPi DBS. The approach of staging STN or GPi DBS without aggressive medication reduction could be a viable option for managing PD surgical candidates. A study of bilateral DBS and of medication reduction will be required to better understand risks and benefits of a bilateral approach.
| S-EPMC4254912 | biostudies-literature
Project description:Larsen syndrome is a rare genetic disorder characterized by weak connective tissues and various musculoskeletal abnormalities. This is a case report of a 39-year-old patient with Larsen syndrome who presented with over a decade of bilateral hip pain and difficulty ambulating. This patient has a prior history of bilateral congenital hip dislocations that were treated with open reduction and spica casting as a child with good result. Years later, she went on to develop bilateral hip osteoarthritis with significant remodeling of the proximal femur. The goal of this case presentation is to demonstrate the utility of total hip arthroplasty for this patient and discuss surgical challenges and considerations.
| S-EPMC10238462 | biostudies-literature