丘脑底核电刺激术治疗原发性肌张力障碍

目的观察双侧丘脑底核(STN)脑深部电刺激(DBS)治疗原发性肌张力障碍的疗效。方法回顾性分析8例接受双侧STN-DBS的原发性肌张力障碍病人的临床资料。分别在术前和术后1、3、6个月进行Burke-Fahn-Marsden肌张力障碍评分(BFMDRS)和帕金森病综合评分量表(UPDRS),计算两项评分改善率,评价治疗效果。结果 BFMDRS和UPDRS评分的改善率:术后1个月其均值分别为47%和48%,术后3个月为69%和73%,术后6个月为75%和79%。结论 STN-DBS可有效改善原发性肌张力障碍病人的症状,术后疗效稳定。STN是DBS治疗原发性肌张力障碍的理想靶点。     

Deep brain stimulation treated dystonia‐trajectory via status dystonicus

Background : Status dystonicus (SD) is a life‐threatening condition. Objective and Methods : In a dystonia cohort who developed status dystonicus, we analyzed demographics, background dystonia phenomenology and complexity, trajectory previous to‐, via status dystonicus episodes, and evolution following them. Results : Over 20 years, 40 of 328 dystonia patients who were receiving DBS developed 58 status dystonicus episodes. Dystonia was of pediatric onset (95%), frequently complex, and had additional cognitive and pyramidal impairment (62%) and MRI alterations (82.5%); 40% of episodes occured in adults. Mean disease duration preceding status dystonicus was 10.3 ± 8 years. Evolution time to status dystonicus varied from days to weeks; however, 37.5% of patients exhibited progressive worsening over years. Overall, DBS was efficient in resolving 90% of episodes. Conclusion : Status dystonicus is potentially reversible and a result of heterogeneous conditions with nonuniform underlying physiology. Recognition of the complex phenomenology, morphological alterations, and distinct patterns of evolution, before and after status dystonicus, will help our understanding of these conditions. © 2018 International Parkinson and Movement Disorder Society     

Sustained quality‐of‐life improvements over 10 years after deep brain stimulation for dystonia

Background : Little is known about the quality of life of people with dystonia and DBS beyond 5 years. The objectives of this study were (1) to examine the long‐term quality‐of‐life outcomes in a large cohort of people with dystonia and DBS, (2) to determine the incidence of stimulation‐induced parkinsonism, and (3) to elucidate the potential long‐term cognitive impact of DBS in this cohort. Methods : Fifty‐four subjects with dystonia and DBS for more than 5 years were contacted via social media and were offered to complete a quality‐of‐life survey comparing current‐day life and life prior to DBS. The primary study outcomes were the Short Form survey, a parkinsonian symptoms questionnaire, the Telephone Montreal Cognitive Assessment, and the Measurement of Every Day Cognition. Results : Thirty‐seven of 54 subjects consented to the study. Average age was 39.7 ± 16.6 years, 16 were female, and 23 were DYT1+. Average time from implantation was 10.5 years. Average total Short Form survey scores improved, from 43.7 pre‐DBS to 69.5 current day (P < 0.0005). Mean total self‐reported parkinsonian symptom score was 13.8 ± 14.7, with worsening balance and hypophonia the most common. Average Telephone Montreal Cognitive Assessment was 20.1 ± 1.6, with 3 of 29 scores (10.3%) in the impaired range (score of 18 or less). Average total Every Day Cognition score was 1.25 ± 0.35, with 3 subjects (10.3%) scoring in the range of impaired cognition (>1.81). Conclusions : DBS for dystonia results in long‐term quality‐of‐life improvements that persist on average 10 years or more after surgery. The prevalence of stimulation‐induced parkinsonism and cognitive impairment is low. © 2018 International Parkinson and Movement Disorder Society     

A pilot trial of square biphasic pulse deep brain stimulation for dystonia: The BIP dystonia study

Background : Dystonia often has inconsistent benefits and requires more energy‐demanding DBS settings. Studies suggest that squared biphasic pulses could provide significant clinical benefit; however, dystonia patients have not been explored. Objectives : To assess safety and tolerability of square biphasic DBS in dystonia patients. Methods : This study included primary generalized or cervical dystonia patients with bilateral GPi DBS. Square biphasic pulses were implemented and patients were assessed at baseline, immediately postwashout, post–30‐minute washout, 1 hour post‐ and 2 hours postinitiation of investigational settings. Results : Ten participants completed the study. There were no patient‐reported or clinician‐observed side effects. There was improvement across time on the Toronto Western Spasmodic Torticollis Rating Scale (χ² = 10.7; P = 0.031). Similar improvement was detected in objective gait measurements. Conclusions : Square biphasic stimulation appears safe and feasible in dystonia patients with GPi DBS. Further studies are needed to evaluate possible effectiveness particularly in cervical and gait features. © 2016 International Parkinson and Movement Disorder Society     

The effects of frequency in pallidal deep brain stimulation for primary dystonia

Abstract. The effect of stimulation frequency for pallidal deep brain stimulation in five patients with either generalized or segmental dystonia was evaluated three to twelve months postoperatively via a randomized, double-blind paradigm. The quality of life and the severity of dystonic symptoms improved by approximately 60% and 43% respectively using a frequency of 130 Hz. Compared with 130 Hz a significant further clinical improvement was observed at frequencies of 180 and 250 Hz, which contrasted with a significant deterioration at lower frequencies (5, 50 Hz) compared to 130 Hz.     

Factors predicting improvement in primary generalized dystonia treated by pallidal deep brain stimulation

Despite the beneficial effects of Globus Pallidus internus (GPi) deep brain stimulation (DBS) in patients with primary generalized dystonia (PGD), the degree of improvement varies from one patient to another. The objective of this study was to examine the effects of clinical, anatomical (volume of the GPi), and electrical variables on the postoperative Burke‐Fahn‐Marsden Dystonia rating scale (BFMDRS) motor score to identify which factors may be predictive of the degree of improvement. We reviewed retrospectively the clinical records of 40 steady‐state patients with PGD who had been treated by bilateral GPi lead implantation. The follow‐up period was 2 to 8 years. The correlation between the electrical parameters (voltage, impedance, and current) and the clinical outcome was studied. An analysis of covariance was performed to identify factors predictive of the magnitude of improvement. The most influential factors according to the model are as follows: the preoperative BFMDRS score (P < 0.0001); age at surgery (P < 0.0001); the right GPi volume (P = 0.002); the left stimulated GPi volume (P = 0.005). No significant correlation was found between the electrical parameters used and the mean motor scores in steady state. © 2009 Movement Disorder Society     

Focal childhood‐onset,action induced primary hip dystonia treated with pallidal deep brain stimulation

Focal proximal lower limb dystonias are rare. Unlike the adult form, focal lower limb dystonias in children usually become generalized. The condition is often unrecognized and the patient often receives orthopedic or psychiatric treatment for years before the diagnosis eventually made. Previously reported cases of isolated lower limb dystonias have been managed nonsurgically. We present a case of a childhood‐onset action‐induced primary hip dystonia that has remained focal even in adulthood and which responded successfully to pallidal deep brain stimulation. Additionally, our results suggest that neurons representing the leg lie within the most ventral aspect of the globus pallidus interna. © 2008 Movement Disorder Society     

Pallidal and thalamic deep brain stimulation in myoclonus‐dystonia

Deep brain stimulation (DBS) of the internal globus pallidus (GPi) and ventral intermediate thalamic nucleus (VIM) are established treatment options in primary dystonia and tremor syndromes and have been reported anecdotally to be efficacious in myoclonus‐dystonia (MD). We investigated short‐ and long‐term effects on motor function, cognition, affective state, and quality of life (QoL) of GPi‐ and VIM‐DBS in MD. Ten MD‐patients (nine ε‐sarcoglycan‐mutation‐positive) were evaluated pre‐ and post‐surgically following continuous bilateral GPi‐ and VIM‐DBS at four time points: presurgical, 6, 12, and as a last follow‐up at a mean of 62.3 months postsurgically, and in OFF‐, GPi‐, VIM‐, and GPi‐VIM‐DBS conditions by validated motor [unified myoclonus rating scale (UMRS), TSUI Score, Burke‐Fahn‐Marsden dystonia rating scale (BFMDRS)], cognitive, affective, and QoL‐scores. MD‐symptoms significantly improved at 6 months post‐surgery (UMRS: 61.5%, TSUI Score: 36.5%, BFMDRS: 47.3%). Beneficial effects were sustained at long‐term evaluation post‐surgery (UMRS: 65.5%, TSUI Score: 35.1%, BFMDRS: 48.2%). QoL was significantly ameliorated; affective status and cognition remained unchanged postsurgically irrespective of the stimulation conditions. No serious long‐lasting stimulation‐related adverse events (AEs) were observed. Both GPi‐ and VIM‐DBS offer equally effective and safe treatment options for MD. With respect to fewer adverse, stimulation‐induced events of GPi‐DBS in comparison with VIM‐DBS, GPi‐DBS seems to be preferable. Combined GPi‐VIM‐DBS can be useful in cases of incapaciting myoclonus, refractory to GPi‐DBS alone. © 2010 Movement Disorder Society     

Globus pallidus deep brain stimulation in dystonia.

Globus pallidus deep brain stimulation (GPi-DBS) is a useful alternative in the treatment of dystonia. Patients selected for GPi-DBS were prospectively rated with the Unified Dystonia Rating Scale (UDRS). Also, "blinded" videotape assessments were performed. Eleven patients were identified. Compared with pre-DBS scores, there were improvements in mean total UDRS score (15.3%) and in the following subscores: neck (18.18%), trunk (32.9%), arm (17.9%), and leg (19.9%). One patient developed a skin infection and erosion requiring surgical debridement. GPi-DBS is a safe and effective treatment for generalized dystonia in patients who remained impaired, despite optimal medical therapy.     

Battery lifetime in pallidal deep brain stimulation for dystonia

Background and Purpose: The aim of the study was to analyse the lifetime of Soletra implantable pulse generators (IPG) in deep brain stimulation (DBS) of the globus pallidus internus (GPi) for dystonia, depending on stimulation parameters and the total electrical energy delivered (TEED) by the IPG. Methods: In a prospective series of 20 patients with GPi DBS for dystonia, we recorded IPG longevity and stimulation parameters over time. An evaluation of the TEED was performed using the previously suggested equation [(voltage² × pulse width × frequency)/impedance] × 1 s. Results: During median follow‐up of 57 months (range 23–79 months), 64 IPGs were replaced because of battery depletion or end of life signal. We found a mean IPG longevity of 25.1 ± 10.1 (range 16–60) months, which was inversely correlated with the TEED (r = −0.72; P < 0.001). IPG longevity was not different between bipolar and monopolar stimulation (24.9 ± 10.8 vs. 25.4 ± 9.0 months, P = 0.76). Incongruously, the mean TEED applied throughout the lifetime cycle was significantly higher in patients with bipolar compared with monopolar stimulation (584 ± 213 vs. 387 ± 121 Joule; P < 0.01). Conclusions: Battery lifetime in GPi DBS for dystonia is substantially shorter compared with that reported in DBS for Parkinson’s disease, caused by a considerably higher voltage and greater pulse width and therefore a higher TEED applied during the battery lifetime cycle. The commonly used equation to calculate TEED, however, seems to be correct only for monopolar, but not bipolar stimulation.     

Lower stimulation frequency can enhance tolerability and efficacy of pallidal deep brain stimulation for dystonia.

We report the case of a patient with medically refractory primary dystonia who was treated with bilateral pallidal deep brain stimulation. Stimulation at 130 Hz or higher, by means of the more ventral contacts generated capsular side effects, which made their use impractical. Consequently, the patient was treated for 9 months at 130 to 185 Hz, by means of the more dorsal contacts, achieving modest results. By reducing the stimulation frequency to 80 Hz, we were able to activate the ventral contacts without inducing side effects. Within days, the patient experienced a dramatic improvement in function that has persisted for 1 year. A further reduction in stimulation frequency to 60 Hz resulted in a worsening of his symptoms. We conclude that chronic stimulation at frequencies of <100 Hz may be efficacious in dystonia and may enhance the tolerability of stimulation by means of contacts that are positioned posteroventrally within the internal globus pallidus, nearer the internal capsule.     

Pallidal deep brain stimulation is effective, and improves quality of life in primary segmental and generalized dystonia

Background –  Dystonia is one of the most prevalent movement disorders, and may lead to abnormal postures, pain, significant disability and social isolation if not well treated. In widespread segmental or generalized dystonia efficient treatment options were lacking until the recent introduction of deep brain stimulation of the internal globus pallidus (pallidal DBS).
Methods –  The first case series and single-blinded controlled study showed promising results regarding the effect of pallidal DBS on dystonic movements, pain and disability, but the impact of this treatment on health-related quality of life (HRQoL) remained uncertain. Then, as part of the first randomized, and sham stimulation-controlled trial performed by the DBS for Dystonia Study Group, HRQoL was evaluated using the Short Form-36 Health Survey (SF-36) at baseline, after the 3 months sham-controlled phase, and after 6 months of continuous pallidal DBS, in 40 patients with severe primary segmental or generalized dystonia.
Results –  The 3-month sham-stimulation controlled phase resulted in significant improvement of dystonic movements, pain and disability in the active stimulation group, and four of the eight SF-36 domain scores also improved significantly compared with the sham-stimulated group. After 6 months of active stimulation in all patients, significant improvement in all eight SF-36 domains was observed, with comparable improvement in the segmental and generalized dystonia groups.
Conclusion –  Convincing evidence has been obtained that pallidal DBS effectively reduces dystonia-related symptoms, and markedly improves HRQoL in patients suffering from otherwise intractable, primary segmental or generalized dystonia, thus providing new opportunities for this patient group.     

脑深部电刺激双侧苍白球治疗Meige综合征3例并文献回顾

目的： Meige综合征是一种特发性累及头面部的肌张力障碍,有时也会影响到颈部。脑深部电刺激（DBS）双侧苍白球内侧部（GPi）治疗肌张力障碍的报道比较多,但治疗Meige综合征的很少。方法对3例双侧GPi-DBS术后的Meige综合征患者进行随访4、6和60个月。所有患者术前术后均采用国际通用的Burke-Fahn-Marsden Dystonia Rating 量表（BFMDRS）评分,包括BFMDRS-Ⅰ（Movement 量表）和BFMDRS-Ⅱ（Disability量表）两个部分。结果3例Meige综合征患者手术后症状均有明显改善,BFMDRS第一部分和第二部分评分的改善率分别为（78±3．1）％（范围75％～83％）和100％。结论双侧GPi-DBS是治疗原发性Meige综合征的一种有效安全的手术方式。     

Meige syndrome and pallidal deep brain stimulation.

The cause of primary Meige syndrome is unknown, and although gender and age predilections are different from idiopathic torsion dystonia, most investigators consider Meige syndrome a variant of that disorder. Interest in the use of stereotactic brain surgery for refractory forms of dystonia is thus increasing. There is little experience with the use of deep brain stimulation (DBS) in focal dystonias, and reports of its use in Meige syndrome are very rare. We report on a case of Meige syndrome successfully treated with bilateral pallidal DBS.     

Subthalamic deep brain stimulation in lingual dystonia: A case series study

Lingual dystonia is a rare disease, which often interferes with daily activities severely. The efficacy of GPi-DBS on patients with refractory lingual symptoms has been previously reported, while high-level evidence is inadequate. Uniquely, we retrospect six lingual dystonia patients treating with subthalamic DBS, showing its immediate, and long-lasting efficacy.