Globus Pallidus Internus Deep Brain Research Articles

Long-Term Globus Pallidus Internus Deep Brain Stimulation in Pediatric Non-Degenerative Dystonia: A Cohort Study and a Meta-Analysis.

The evidence in the effectiveness of deep brain stimulation in children with medication-refractory non-degenerative monogenic dystonia is heterogeneous and long-term results are sparse. The objective is to describe long-term outcomes in a single-center cohort and compare our results with a meta-analysis cohort form literature. We performed a retrospective single-center cohort study including consecutive pediatric patients with non-degenerative genetic or idiopathic dystonia treated with globus pallidus internus deep brain stimulation at our center and a systematic review and individual-patient data meta-analysis with the same inclusion criteria. The primary outcome was the change from baseline in the Burke-Fahn-Marsden Dystonia Rating Scale-movement (BFMDRS-M) score. The clinical cohort included 25 patients with a mean study follow-up of 11.4 years. The meta-analysis cohort included 224 patients with a mean follow-up of 3 years. Overall, the BFMDRS-M mean improvements at 1 year and at last follow-up were 41% and 33% in the clinical cohort and 58.9% and 57.2% in the meta-analysis cohort, respectively. TOR1A-dystonia showed the greatest and most stable BFMDRS-M improvement in both cohorts at 1 year and at last follow-up (76.3% and 74.3% in the clinical cohort; 69.6% and 67.3% in the meta-analysis cohort), followed by SGCE-dystonia (63% and 63.9% in the meta-analysis cohort). THAP1-dystonia (70.1% and 29.8% in the clinical cohort; 52.3% and 42.0% in the meta-analysis cohort) and KMT2B-dystonia (33.3% and 41.3% in the clinical cohort; 38.0% and 26.7% in the meta-analysis cohort) showed a less pronounced or sustained response. Globus pallidus deep brain stimulation long-term treatment seems effective with a possible gene-specific differential effect. © 2024 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.

Stimulation-induced Sensory Side Effects from Globus Pallidus Internus Deep Brain Stimulation? (P2-3.013)

Stimulation-induced Sensory Side Effects from Globus Pallidus Internus Deep Brain Stimulation? (P2-3.013)

Electrode position and cognitive outcome following deep brain stimulation surgery

OBJECTIVE Subthalamic nucleus (STN) and globus pallidus internus (GPI) deep brain stimulation (DBS) effectively treat motor symptoms in Parkinson’s disease (PD) but may be associated with cognitive and psychiatric changes in some patients. Evaluation of changes in cognitive and psychiatric symptoms following DBS is complicated by changes in these symptoms that occur as part of the natural disease course. The aim of this study was to evaluate whether electrode position was associated with changes in neurocognitive symptoms in patients who underwent STN and GPI DBS. METHODS A single-institution retrospective cohort study was conducted on patients with PD who underwent DBS from 2008 to 2019. Cognitive and psychiatric outcomes included Beck Depression Inventory II (BDI-II) score, presence of impulsive-compulsive behavior (ICB), Mini-Mental State Examination (MMSE) score, and overall cognitive status grade determined by comprehensive neuropsychology testing (normal, mild impairment, moderate impairment, and dementia). Pre- and postoperative comparisons were performed using a Wilcoxon signed-rank test or paired t-test. Patients with and without cognitive decline were compared using a Mann-Whitney U-test or unpaired t-test. A chi-square test was used for categorical comparisons. RESULTS One hundred thirty patients were included (mean age 62.5 ± 7.9 years). At a mean postoperative follow-up from DBS of 13.0 ± 12.7 (range 6–66) months, there was an improvement in ICB (26.3% preoperatively vs 15.0% postoperatively, p = 0.017), but a decline in MMSE score (28.6 ± 1.6 vs 27.6 ± 2.0, p < 0.001) and overall cognitive status (normal: 66.2% vs 39.2%; mild: 12.3% vs 17.7%; moderate: 21.5% vs 33.1%; dementia: 0.0% vs 10.0%; p < 0.001). Patients undergoing STN DBS had a worse decline in overall cognitive status than patients who underwent GPI DBS (p = 0.006). Postoperative cognitive decline was associated with a more medial electrode position only for patients who underwent STN DBS. CONCLUSIONS Cognitive change was observed in some patients with PD who underwent both GPI and STN DBS, likely due partly to underlying disease progression. Compared with GPI DBS, STN DBS was associated with a greater likelihood of cognitive decline. In STN but not GPI DBS, cognitive decline was associated with medialized electrode position, suggesting modulation of nonmotor STN divisions may contribute to cognitive changes following STN DBS.

Case report: Lingual dystonia symptoms treated with botulinum toxin in patients with THAP1 mutation

Background: THAP1 mutation dystonia is a known genetic cause of generalized dystonia. THAP1 mutation frequently presents with clinical features of bulbar dysfunction, including oromandibular and lingual dystonia. Patients complain of significant speech, chewing, and swallowing difficulties leading to major occupational and social disabilities. While bilateral globus pallidus internus deep brain stimulation (DBS) is powerful therapy for generalized dystonia and improves dystonia symptoms in the cervical and limb region, it may not improve speech despite multiple adjustments to the stimulation parameters. Treating lingual dystonia symptoms with oral medications is commonly unsatisfactory. Botulinum toxin injection, a potent therapy for focal forms of dystonia is currently underutilized in clinical practice for treating lingual dystonia.Cases: We present two patients with THAP1 mutation reporting lingual dystonia symptoms. The first patient did not meet the eligibility criteria for DBS therapy due to significant psychiatric symptoms. The second patient received DBS with improvements in cervical, limb, and trunk symptoms but complained of severe speech difficulties that did not improve despite multiple programming sessions. These patients were treated with botulinum toxin injections every 12 weeks for more than 3 years, with speech improvements lasting most of the cycle. For the most part they tolerated botulinum toxin without bothersome side effects. Along with the clinical histories, we present objective perceptual analysis of speech samples collected before and after botulinum toxin injections in one of the treatment cycles.Conclusion: Botulinum toxin injections that are clinically beneficial for mitigating lingual dystonia symptoms should be utilized to address symptoms of THAP1 mutation dystonia that may not be amenable to other therapies, such as the DBS.

Bilateral globus pallidus internus (GPi) deep brain stimulation for cervical dystonia: Effects on motor and non-motor symptoms within 5 years follow

BackgroundCervical Dystonia (“CD”) is a movement disorder characterised by sustained muscle contractions in the neck, causing involuntary posturing. Deep brain stimulation (“DBS”) of the globus pallidal internus (GPi) is advanced treatment for pharmaco-refractory patients. As CD is a rare disease, cohort studies are often limited to patients of heterogenous disease profile, small sample size or short follow-up. This study firstly aimed to measure the efficacy of GPi-DBS on motor and non-motor symptoms of CD. A secondary aim was to evaluate if clinical factors – such as age, disease duration and baseline disease severity – influence variability of motor outcomes. Methods37 idiopathic CD patients were recruited from movement disorders clinics at The Walton NHS Foundation Trust, Liverpool, UK. Patients were assessed pre-operatively, and 1 year, 3 years and 5 years post-operatively with the following clinical scales: Toronto Western Spasmodic Torticollis Rating Scale (“TWSTRS”), Hospital Anxiety and Depression Scale and EuroQuol-5D. ResultsGPI-DBS significantly improved overall TWSTRS scores by 57% from baseline to 5Y FU (p < 0.001). It also significantly improved TWSTRS severity, disability, and pain sub-scores by 72%, 59% and 46% respectively. We did not find a significant improvement in mood or quality of life scores at 5 years. Similarly, clinical factors at baseline did not correlate with variability in motor outcome. ConclusionWe concluded that GPi-DBS is an effective treatment for motor symptoms and pain in CD. There was limited effect on mood and QoL, and no clinical predictive factors of outcome were identified.

A convergent subcortical signature to explain the common efficacy of subthalamic and pallidal deep brain stimulation.

This scientific commentary refers to 'Globus pallidus internus deep brain stimulation evokes resonant neural activity in Parkinson's disease', by Johnson et al. (https://doi.org/10.1093/braincomms/fcad025).

Globus pallidus internus deep brain stimulation evokes resonant neural activity in Parkinson's disease.

Globus pallidus internus deep brain stimulation is an established therapy for patients with medication-refractory Parkinson's disease. Clinical outcomes are highly dependent on applying stimulation to precise locations in the brain. However, robust neurophysiological markers are needed to determine the optimal electrode location and to guide postoperative stimulation parameter selection. In this study, we evaluated evoked resonant neural activity in the pallidum as a potential intraoperative marker to optimize targeting and stimulation parameter selection to improve outcomes of deep brain stimulation for Parkinson's disease. Intraoperative local field potential recordings were acquired in 22 patients with Parkinson's disease undergoing globus pallidus internus deep brain stimulation implantation (N = 27 hemispheres). A control group of patients undergoing implantation in the subthalamic nucleus (N = 4 hemispheres) for Parkinson's disease or the thalamus for essential tremor (N = 9 patients) were included for comparison. High-frequency (135 Hz) stimulation was delivered from each electrode contact sequentially while recording the evoked response from the other contacts. Low-frequency stimulation (10 Hz) was also applied as a comparison. Evoked resonant neural activity features, including amplitude, frequency and localization were measured and analysed for correlation with empirically derived postoperative therapeutic stimulation parameters. Pallidal evoked resonant neural activity elicited by stimulation in the globus pallidus internus or externus was detected in 26 of 27 hemispheres and varied across hemispheres and across stimulating contacts within individual hemispheres. Bursts of high-frequency stimulation elicited evoked resonant neural activity with similar amplitudes (P = 0.9) but a higher frequency (P = 0.009) and a higher number of peaks (P = 0.004) than low-frequency stimulation. We identified a 'hotspot' in the postero-dorsal pallidum where stimulation elicited higher evoked resonant neural activity amplitudes (P < 0.001). In 69.6% of hemispheres, the contact that elicited the maximum amplitude intraoperatively matched the contact empirically selected for chronic therapeutic stimulation by an expert clinician after 4 months of programming sessions. Pallidal and subthalamic nucleus evoked resonant neural activity were similar except for lower pallidal amplitudes. No evoked resonant neural activity was detected in the essential tremor control group. Given its spatial topography and correlation with postoperative stimulation parameters empirically selected by expert clinicians, pallidal evoked resonant neural activity shows promise as a potential marker to guide intraoperative targeting and to assist the clinician with postoperative stimulation programming. Importantly, evoked resonant neural activity may also have the potential to guide directional and closed-loop deep brain stimulation programming for Parkinson's disease.

Theta/Alpha Band Suppression and Clinical Outcomes During Globus Pallidus Internus Deep Brain Stimulation in Huntington's Disease.

Theta/Alpha Band Suppression and Clinical Outcomes During Globus Pallidus Internus Deep Brain Stimulation in Huntington's Disease.

Bilateral globus pallidus interna deep brain stimulation in Parkinson's disease: Therapeutic effects and motor outcomes prediction in a short-term follow up.

We aimed to compare the motor effect of bilateral globus pallidus interna (GPi) deep brain stimulation (DBS) on motor subtypes of Parkinson's disease (PD) patients and identify preoperative predictive factors of short-term motor outcome. We retrospectively investigated bilateral GPi DBS clinical outcomes in 55 PD patients in 1 year follow up. Motor outcome was measured by the Movement Disorder Society Unified Parkinson's Disease Rating Scale (MDS-UPDRS) part III before and 1 year after surgery. Clinical outcomes were compared among different motor subtypes. Preoperative predictors of motor outcome were assessed by performing univariate and multivariate linear regression and logistic regression analyses. At 1 year following implantation, GPi DBS significantly improved the off-medication MDS-UPDRS III scores in all motor subtype cohorts, with prominent improvement in tremor. No significant difference of postoperative motor symptoms changes was found except greater tremor improvement achieved in both the tremor-dominant (TD) and indeterminate (IND) patients compared to the postural instability and gait difficulty (PIGD) patients. High percentage of PIGD patients were weak responders to DBS. Better levodopa responsiveness and more severe tremor predicted greater overall improvement of motor function in the entire cohort. Similarly, both levodopa responsiveness and tremor improvement were confirmed as predictors for motor improvement in PIGD patients. Bilateral GPi DBS could effectively improve motor outcomes in PD patients regardless of motor subtypes. Both TD and IND patients obtained larger tremor improvement. The intensity of levodopa responsiveness and the severity of tremor could serve as predictors of motor improvement 1 year after GPi DBS.

Efficacy of Deep Brain Stimulation for Camptocormia in Parkinson's Disease: A Systematic Review and Meta-Analysis.

Camptocormia is one of the most common postural disorders of Parkinson's disease (PD) which has limited treatment options. In this review, we summarize the efficacy of deep brain stimulation (DBS) for camptocormia in PD. The PubMed (https://pubmed.ncbi.nlm.nih.gov/) and EMBASE databases (https://www.embase.com/) were searched for the terms "Parkinson Disease" and "camptocormia" in combination with "deep brain stimulation". We then explored the efficacy of DBS for camptocormia by statistical analysis of the bending angle, the Unified Parkinson's Disease Rating Scale III (UPDRS-III) and L-dopa equivalent daily dose (LEDD), and by evaluating the prognosis after DBS. Twenty articles that reported results for 152 patients were included in this review. These comprised 136 patients from 16 studies who underwent subthalamic nucleus deep brain stimulation (STN-DBS), and 13 patients from 3 studies who underwent globus pallidus internus deep brain stimulation (GPi-DBS). One study used both STN-DBS (2 patients) and GPi-DBS (one patient). After 3-21 months of follow-up, the mean bending angle during the Off-period was significantly reduced compared to pre-DBS (31.5 ± 21.4 vs. 53.6 ± 22.7, respectively; p < 0.0001). For the STN-DBS trials, the mean post-operative bending angles during both Off- and On-periods were significantly reduced compared to pre-operative (32.1 ± 22.7 vs. 55.4 ± 24.1, p = 0.0003; and 33.1 ± 21.5 vs. 43.7 ± 20.6, p = 0.0003, respectively). For GPi-DBS, the mean bending angle post-DBS during the Off-period was considerably lower than pre-DBS (28.5 ± 10.7 vs. 42.9 ± 9.9, p < 0.001). The decrease in bending angle after DBS was negatively correlated with the duration of camptocormia (R = - 0.433, p = 0.013), whereas positively associated with the pre-bending angle (R = 0.352, p = 0.03). DBS is an effective treatment for camptocormia in PD. Patients in the early stage of camptocormia with more significant bending angle may benefit more from DBS.

THE EFFECT OF DEEP BRAIN STIMULATION ON MOTOR FUNCTIONS AND QUALITY OF LIFE IN THE TREATMENT OF DYSTONIA

Background/Aims: The present study aims to evaluate the levels of depression and health-related quality of life (HRQoL) after surgical globus pallidus internus deep brain stimulation (Gpi-DBS) treatment in patients with generalized and segmental dystonia refractory to medical treatment. Methods: Seventeen patients diagnosed with primary and secondary dystonia who were selected for GPi-DBS by the neurology, neurosurgery, and psychiatry council were included in the study. The patients were divided into two groups: primary dystonia and secondary dystonia. All patients were evaluated using the Burke-Fahn-Marsden Dystonia Rating Scale (BFMDRS) to assess dystonia-related loss of function and disability, the Short Form 36 (SF-36) to assess HRQoL levels, and the Beck Depression Inventory (BDI) to assess depression levels before Gpi-DBS and 1 year after Gpi-DBS, retrospectively. Results: In this study, significant improvement in BFMDRS scores and significant improvement in HRQoL levels were observed after 1 year of Gpi-DBS treatment in all dystonia types. Moreover, significant improvement was found in dystonia severity and disability levels, and HRQoL levels in primary dystonia and secondary dystonia subgroups. Conclusions: We suggest that Gpi-DBS improves dystonia symptoms, and increases HRQoL levels in dystonia. In addition, this study is the first in Turkey to evaluate the effect of Gpi-DBS on HRQoL levels in dystonia. However, we believe that further research with more participants is also needed in Turkey in this regard.

Successful Treatment of Biphasic and Peak-dose Dyskinesia With Combined Unilateral Subthalamic Nucleus and Contralateral Globus Pallidus Interna Deep Brain Stimulation.

Successful Treatment of Biphasic and Peak-dose Dyskinesia With Combined Unilateral Subthalamic Nucleus and Contralateral Globus Pallidus Interna Deep Brain Stimulation.

Long-Term Outcomes of Idiopathic and Acquired Dystonia After Pallidal Deep Brain Stimulation: A Case Series.

Among dystonia patients receiving globus pallidus internus (GPi) deep brain stimulation (DBS), long-term outcomes remain to be established. To report the long-term outcomes of GPi DBS in a patient cohort with idiopathic and acquired dystonia. In this long-term follow-up cohort, there were 4 patients with idiopathic dystonia and 2 patients with acquired dystonia. The Burke-Fahn-Marsden Dystonia Rating Scale was used to evaluate 6 consecutive patients preoperatively and at 6months, 12months, and the last follow-up. The relationship between etiology and clinical improvement was analyzed. Stimulation parameters were evaluated for similarities and differences among these patients. The mean follow-up of our cohort was 65.3months (median 40.5months). The average improvement in the Burke-Fahn-Marsden Dystonia Rating Scale (mean±SEM) were 56%±7.6, 67%±6.8 and 66%±9.7 at 6months, 12months, and the last follow-up, respectively. There was greater improvement during the long-term follow-up in the 4 patients with idiopathic dystonia than in the 2 patients with acquired dystonia. The 2 most ventral electrodes (contact 0 and 1) were activated in all 11 leads in this cohort. The average stimulation intensity, pulse width and frequency were 2.0±0.24mA, 252±43μs, and 99±6.0Hz, respectively. Isolated dystonia, either monogenic or idiopathic, usually responds better to GPi DBS than to acquired dystonia. Selection of patients by dystonia etiology, accurate placement of DBS leads in GPi targets, and proper stimulation programming are crucial to achieve better long-term outcomes.

Rescue procedure for isolated dystonia after the secondary failure of globus pallidus internus deep brain stimulation.

Globus pallidus internus (GPi) deep brain stimulation (DBS) is widely used in patients with dystonia. However, 10-20% of patients receive insufficient benefits. The objectives of this study are to evaluate the effectiveness of bilateral subthalamic nucleus (STN) DBS along with unilateral posteroventral pallidotomy (PVP) in patients with dystonia who experienced unsatisfactory GPi-DBS and to address the reported rescue procedures after suboptimal DBS or lesion surgery in dystonia patients. Six patients with isolated dystonia who had previously undergone bilateral GPi-DBS with suboptimal improvement were included. Standardized assessments of dystonia using the Burke-Fahn-Marsden Dystonia Rating Scale (BFMDRS) and quality of life using SF-36 were evaluated before surgery and 1, 6 months, and last follow-up (LFU) after surgery. STN bilateral OFF (bi-OFF), unilateral ON (uni-ON), and bilateral ON (bi-ON) states were recorded at LFU. Specific items were used to find publications published before 10 April 2022 regarding rescue procedures after suboptimal DBS or lesion surgery in patients with dystonia for reference. Eleven original studies including case reports/series were identified for discussion. Substantial clinical benefits were achieved in all six patients. Significant amelioration was achieved during the 1-month (6.5 ± 7.45; p = 0.0049), 6-month (5.67 ± 6.3; p = 0.0056) follow-ups, and at LFU (4.67 ± 4.72; p = 0.0094) when compared with the baseline (LFU of GPi DBS with on status) (17.33 ± 11.79) assessed by BFMDRS. The percentage of improvement reached 70.6, 74.67, and 77.05%, respectively. At LFU, significant differences were found between the stimulation bi-OFF and uni-ON (11.08 ± 8.38 vs. 9 ± 8.52, p = 0.0191), and between the stimulation bi-OFF and bi-ON (11.08 ± 8.38 vs. 4.67 ± 4.72, p = 0.0164). Trends depicting a better improvement in stimulation bi-ON compared with uni-ON (4.67 ± 4.72 vs. 9 ± 8.52, p = 0.0538) were observed. Our results suggest that bilateral STN-DBS plus unilateral PVP may be an effective rescue procedure for patients with isolated dystonia who experienced suboptimal movement improvement following GPi-DBS. However, given the heterogeneity of patients and the small sample size, these findings should be interpreted with caution.

Pallidus Stimulation for Chorea-Acanthocytosis: A Systematic Review and Meta-Analysis of Individual Data.

A significant proportion of patients with chorea-acanthocytosis (ChAc) fail to respond to standard therapies. Recent evidence suggests that globus pallidus internus (GPi) deep brain stimulation (DBS) is a promising treatment option; however, reports are few and limited by sample sizes. We conducted a systematic literature review to evaluate the clinical outcome of GPi-DBS for ChAc. PubMed, Embase, and Cochrane Library databases were searched for relevant articles published before August 2021. The improvement of multiple motor and nonmotor symptoms was qualitatively presented. Improvements in the Unified Huntington’s Disease Rating Scale motor score (UHDRS-MS) were also analyzed during different follow-up periods. A multivariate linear regression analysis was conducted to identify potential predictors of clinical outcomes. Twenty articles, including 27 patients, were eligible. Ninety-six percent of patients with oromandibular dystonia reported significant improvement. GPi-DBS significantly improved the UHDRS-motor score at < 6 months (p < 0.001) and ≥ 6 months (p < 0.001). The UHDRS-motor score improvement rate was over 25% in 75% (15/20 cases) of patients at long-term follow-up (≥ 6 months). The multiple linear regression analysis showed that sex, age at onset, course of disease, and preoperative movement score had no linear relationship with motor improvement at long-term follow-up (p > 0.05). GPi-DBS is an effective and safe treatment in most patients with ChAc, but no reliable predictor of efficacy has been found. Oromandibular dystonia-dominant patients might be the best candidates for GPi-DBS.

Long-term efficacy, prognostic factors, and safety of deep brain stimulation in patients with refractory Tourette syndrome: A single center, single target, retrospective study

BackgroundTo evaluate the long-term efficacy, prognostic factors, and safety of posteroventral globus pallidus internus deep brain stimulation (DBS) in patients with refractory Tourette syndrome (RTS). MethodsThis retrospective study recruited 61 patients with RTS who underwent posteroventral globus pallidus internus (GPi) DBS from January 2010 to December 2020 at the Chinese People's Liberation Army General Hospital. The Yale Global Tic Severity Scale (YGTSS), Yale-Brown Obsessive-Compulsive Scale (YBOCS), Beck Depression Inventory (BDI), Gilles de la Tourette Syndrome Quality-of-Life Scale (GTS-QOL) were used to evaluate the preoperative and postoperative clinical condition in all patients. Prognostic factors and adverse events following surgery were analyzed. ResultsPatient follow up was conducted for an average of 73.33 ± 28.44 months. The final postoperative YGTSS (32.39 ± 22.34 vs 76.61 ± 17.07), YBOCS (11.26 ± 5.57 vs 18.31 ± 8.55), BDI (14.36 ± 8.16 vs 24.79 ± 11.03) and GTS-QOL (39.69 ± 18.29 vs 78.08 ± 14.52) scores at the end of the follow-up period were significantly lower than those before the surgery (p < 0.05). While age and the duration of follow-up were closely related to prognosis, the disease duration and gender were not. No serious adverse events were observed and only one patient exhibited symptomatic deterioration. ConclusionsPosteroventral-GPI DBS provides long-term effectiveness, acceptable safety and can improve the quality of life in RTS patients. Moreover, DBS is more successful among younger patients and with longer treatment duration.

Evaluation of outcome of different neurosurgical modalities in management of cervical dystonia

BackgroundCervical dystonia is the most common form of focal dystonia and is managed by multiple modalities including repeated botulinum toxin injections, in addition to medical treatment with anticholinergics, muscle relaxants, and physiotherapy. However, surgical interventions could be beneficial in otherwise refractory patients. This study aims to report our experience in the neurosurgical management of cervical dystonia and evaluate patient outcomes using reliable outcome scores for the assessment of patients with cervical dystonia and possible complications. This case series study was conducted on 19 patients with cervical dystonia of different etiologies who underwent surgical management [ten patients underwent selective peripheral denervation, five patients underwent pallidotomy, and four patients underwent bilateral globus pallidus internus (GPi) deep brain stimulation (DBS)] in the period between July 2018 and June 2021 at Ain Shams University Hospitals, Cairo, Egypt. With the assessment of surgical outcomes using the Toronto Western Spasmodic Torticollis Rating Scale (TWSTRS) and the Tsui scale 6 months postoperatively.ResultsSurgical management of patients with cervical dystonia of either primary or secondary etiology was associated with significant improvement in head and neck postures after 6 months without major complications associated with the different surgical procedures. The mean improvement in total TWSTRS and Tsui scores were 51.2% and 64.8%, respectively, compared with preoperative scores, while the mean improvement in the TWSTRS subscales (severity, disability, and pain) were 40.2%, 66.9%, and 58.3%, respectively.ConclusionCervical dystonia patients in whom non-surgical options have failed to alleviate their symptoms can be managed surgically leading to significant improvements with minimal adverse effects. However, surgical treatment should be tailored according to several factors including but not limited to the etiology, pattern of dystonic activity, and comorbidities. Therefore, management should be tailored to achieve long-term improvement with minimal risk of complications.

Differential Effects of Subthalamic Nucleus and Globus Pallidus Internus Deep Brain Stimulation on Motor Subtypes in Parkinson's Disease

To investigate differences in motor symptom change outcomes following bilateral subthalamic nucleus (STN) and globus pallidus internus (GPi) deep brain stimulation (DBS) in well-defined motor subtypes of Parkinson's disease (PD) to improve clinical decision making. We included 114 patients undergoing STN-DBS and 65 patients undergoing GPi-DBS. The patients were classified as akinetic-rigid type (ART), tremor-dominant type (TD), and mixed type (MT) based on the preoperative the Movement Disorder Society Unified Parkinson's Disease Rating Scale Part-Ⅲ (MDS-UPDRS-III) scores in the medication-off state. Outcome measures included the med-off MDS-UPDRS-III and its subscores changes at the last follow-up after surgery. Outcomes were compared among different motor subtypes and between STN-DBS and GPi-DBS. At the last follow-up (14.92 ± 8.35 months), TD patients had greater median overall motor improvement in med-off MDS-UPDRS-III scores compared with ART patients (62.90% vs 46.67%, P < 0.001), regardless of stimulation target. ART patients showed greater improvement after STN-DBS compared with GPi-DBS (54.44% vs 37.21%, P < 0.001), with improvement in rigidity, akinesia, and posture and gait disorders accounting for this difference. Our results suggest that the different PD motor subtypes show differential responses to STN-DBS and GPi-DBS, that TD patients have greater improvement than ART patients, and STN-DBS has a better effect in ART patients than GPi-DBS. Besides, different motor symptoms among different motor subtypes may respond differently to STN-DBS vs GPi-DBS. All above may reflect the heterogeneity of PD. Longer-term outcomes across different motor subtypes and stimulation targets should be further studied.

ДИСТОНИЯ DYT6 С ТАРДИВНОЙ ХОРЕЕЙ И ОТЛИЧНЫМ РЕЗУЛЬТАТОМ ЛЕЧЕНИЯ ГЛУБОКОЙ СТИМУЛЯЦИЕЙ МОЗГА В ОБЛАСТИ МЕДИАЛЬНОЙ ЧАСТИ БЛЕДНОГО ШАРА

Dystonia-6 (DYT-THAP1, DYT6) is an autosomal dominant movement disorder characterized by early involvement of craniofacial muscles with secondary generalization. DYT6 is caused by heterozygous variants in the THAP domain-containing protein 1 (THAP1) gene. Currently, more than 90 different pathogenic missense and truncating THAP1 variants have been reported – mainly in people from Europe but also from China and Brazil. However, no cases of genetically confirmed DYT6 have been described in Central Asian countries. Here the first case of genetically confirmed DYT6-dystonia from Central Asia is described. The proband had adolescent-onset focal dystonia with secondary generalization, trihexyphenidyl induced persistent chorea and robust and sustained response to globus pallidus internus deep brain stimulation. Her definitive diagnosis has been made 39 years after the onset of the disease keeping her for almost 4 decades disabled. This paper highlights the urgent need for movement disorders specialists in Central Asia as well as access to free genetic testing and deep brain stimulation surgery. Keywords: Dystonia, genetics, movement disorders, DBS, DYT6.

Both subthalamic and pallidal deep brain stimulation are effective for GNAO1-associated dystonia: three case reports and a literature review.

Background:Mutations in the G-protein subunit alpha o1 (GNAO1) gene have recently been shown to be involved in the pathogenesis of early infantile epileptic encephalopathy and movement disorders. The clinical manifestations of GNAO1-associated movement disorders are highly heterogeneous. However, the genotype–phenotype correlations in this disease remain unclear, and the treatments for GNAO1-associated movement disorders are still limited.Objective:The objective of this study was to explore diagnostic and therapeutic strategies for GNAO1-associated movement disorders.Methods:This study describes the cases of three Chinese patients who had shown severe and progressive dystonia in the absence of epilepsy since early childhood. We performed genetic analyses in these patients. Patients 1 and 2 underwent globus pallidus internus (GPi) deep brain stimulation (DBS) implantation, and Patient 3 underwent subthalamic nucleus (STN) DBS implantation. In addition, on the basis of a literature review, we summarized and discussed the clinical characteristics and outcomes after DBS surgery for all reported patients with GNAO1-associated movement disorders.Results:Whole-exome sequencing (WES) analysis revealed de novo variants in the GNAO1 gene for all three patients, including a splice-site variant (c.724–8G > A) in Patients 1 and 3 and a novel heterozygous missense variant (c.124G > A; p. Gly42Arg) in Patient 2. Both GPi and STN DBS were effective in improving the dystonia symptoms of all three patients.Conclusion:DBS is effective in ameliorating motor symptoms in patients with GNAO1-associated movement disorders, and both STN DBS and GPi DBS should be considered promptly for patients with sustained refractory GNAO1-associated dystonia.