Hand Dystonia after Focused Ultrasound Thalamotomy in Essential Tremor.

INTRODUCTION: Magnetic resonance guided focused ultrasound (MRgFUS) thalamotomy is an effective treatment for drug-resistant tremor. The most frequent side effects are ataxia, gait disturbance, paresthesias, dysgeusia, and hemiparesis. Here, we report the first case of thalamic hand dystonia rapidly occurring after MRgFUS thalamotomy of the ventral intermediate nucleus (V.im). CASE PRESENTATION: MRgFUS thalamotomy was performed in a 60-year-old left-handed patient for his disabling medically refractory essential tremor. The intervention resulted in a marked reduction of his action tremor. However, the patient developed an unvoluntary abnormal posture in his left hand a few days after the procedure with difficulty holding a cigarette between his fingers. Brain MRI revealed the expected MRgFUS lesion within the right V.im as well as an extension of the lesion anteriorly to the V.im in the ventro-oralis nucleus. Tractography showed that the lesion disrupted the dentato-rubro-thalamic tract as expected with a lesion suppressing tremor. However, the lesion also was interrupted fibers connecting to the superior frontal and pre-central cortices (primary motor cortex, premotor cortex, and supplementary area). We hypothesized that the interventional MRgFUS thalamotomy was slightly off target, which induced a dysfunction within the cortico-striato-thalamo-cortical network and the cerebello-thalamo-cortical pathway reaching a sufficient threshold of basal ganglia/cerebellum circuitry interference to induce dystonia. CONCLUSION: This rare side effect emphasizes the risk of imbalance within the dystonia network (i.e., basal ganglia-cerebello-thalamo-cortical circuit) secondary to V.im thalamotomy.

Bilateral Simultaneous Magnetic Resonance-Guided Focused Ultrasound Pallidotomy for Life-Threatening Status Dystonicus.

BACKGROUND: Invasive treatments like radiofrequency stereotactic lesioning or deep brain stimulation of the globus pallidus internus can resolve drug-resistant status dystonicus (SD). However, these open procedures are not always feasible in patients with SD. OBJECTIVE: The aim was to report the safety and efficacy of simultaneous asleep bilateral transcranial magnetic resonance-guided focused ultrasound (MRgFUS) pallidotomy for life-threatening SD. METHODS: We performed bilateral simultaneous MRgFUS pallidotomy under general anesthesia in 2 young patients with pantothenate kinase-associated neurodegeneration and GNAO1 encephalopathy. Both patients had medically refractory SD and severe comorbidities contraindicating open surgery. RESULTS: SD resolved at 4 and 12 days after MRgFUS, respectively. Adverse events (intraoperative hypothermia and postoperative facial paralysis) were mild and transient. CONCLUSION: Bilateral simultaneous MRgFUS pallidotomy under general anesthesia is safe and may be a valid alternative therapeutic option for fragile patients. Further studies are needed to assess long-term efficacy of the procedure.

Outcomes of Unilateral Pallidotomy in Focal and Hemidystonia Cases: A Single-Blind Cohort Study.

BACKGROUND: The role of deep brain stimulation in the treatment of dystonia has been widely documented. However, there is limited literature on the outcome of lesioning surgery in unilateral dystonia. OBJECTIVE: We restrospectively reviewed our cases of focal and hemidystonia undergoing unilateral Pallidotomy at our institute to evaluate the short-term and long-term outcome. METHODS: Patients who underwent radiofrequency lesioning of GPi for unilateral dystonia between 1999 and 2019 were retrospectively reviewed. All patients were evaluated using the Burke-Fahn-Marsden Dystonia Rating Scale (BFMDRS) and Dystonia Disability Scale (DDS) preoperatively at the short term follow-up (<1 year) and at long-term follow-up (2-7.5 years). Video recordings performed at these time points were independently reviewed by a blinded movement disorders specialist. RESULTS: Eleven patients were included for analysis. The preoperative, short-term, and long-term follow-up motor BFMDRS and DDS scores were 15.5 (IQR [interquartile range]: 10.5, 23.75) and 10.5 (IQR: 6.0, 14.5); 3.0 (IQR: 1.0, 6.0, P = 0.02) and 3.0 (IQR: 3.0, 8.0, P = 0.016); and 14.25 (IQR: 4.0, 20.0, P = 0.20) and 10.5 (IQR: 2.0, 15.0, P = 0.71) respectively. For observers B, the BFMDRS scores at the same time points were 19 (IQR: 12.5, 27.0), 7.5 (IQR: 6.0, 15.0, P = 0.002), and 21 (IQR: 7.0, 22.0, P = 0.65) respectively. The improvement was statistically significant for all observations at short-term follow-up but not at long-term follow-up. CONCLUSION: Pallidotomy is effective for hemidystonia or focal dystonia in the short term. Continued benefit was seen in the longer term in some patients, whereas others worsened. Larger studies may be able to explain this in future.

Pistol Shooting Dystonia Treated with Thalamotomy.

Background: Neurosurgical treatment for pistol shooting dystonia has not been studied. Case report: The patient was a 41-year-old woman who participated in the Olympic Games four times as a shooting player. Five months after the final Tokyo Olympic trials, she developed dystonia of the right index finger when shooting. Stereotactic thalamotomy was performed, and a complete resolution of dystonia was achieved. She garnered her personal best score and placed fifth in the Tokyo Olympics. Discussion: Thalamotomy along with deep brain stimulation can be a surgical modality for patients with task-specific dystonia who fail oral medications or botulinum toxin therapy.

Neurosurgical management of non-spastic movement disorders.

BACKGROUND: Non-spastic movement disorders in children are common, although true epidemiologic data is difficult to ascertain. Children are more likely than adults to have hyperkinetic movement disorders defined as tics, dystonia, chorea/athetosis, or tremor. These conditions manifest from acquired or heredodegenerative etiologies and often severely limit function despite medical and surgical management paradigms. Neurosurgical management for these conditions is highlighted. METHODS: We performed a focused review of the literature by searching PubMed on 16 May 2023 using key terms related to our review. No temporal filter was applied, but only English articles were considered. We searched for the terms (("Pallidotomy"[Mesh]) OR "Rhizotomy"[Mesh]) OR "Deep Brain Stimulation"[Mesh], dystonia, children, adolescent, pediatric, globus pallidus, in combination. All articles were reviewed for inclusion in the final reference list. RESULTS: Our search terms returned 37 articles from 2004 to 2023. Articles covering deep brain stimulation were the most common (n = 34) followed by pallidotomy (n = 3); there were no articles on rhizotomy. DISCUSSION: Non-spastic movement disorders are common in children and difficult to treat. Most of these patients are referred to neurosurgery for the management of dystonia, with modern neurosurgical management including pallidotomy, rhizotomy, and deep brain stimulation. Historically, pallidotomy has been effective and may still be preferred in subpopulations presenting either in status dystonicus or with high risk for hardware complications. Superiority of DBS over pallidotomy for secondary dystonia has not been determined. Rhizotomy is an underutilized surgical tool and more study characterizing efficacy and risk profile is indicated.

Flexor tendon transfer for focal dystonia with involuntary flexion of the ring finger.

We report a case of task-specific dystonia characterized by involuntary flexion of the ring finger. After resecting the flexor of the ring finger, the flexor digitorum profundus of the middle finger was transferred to the resected site.

Bilateral pallidotomy for acquired or heredodegenerative generalized dystonia in children.

OBJECTIVE: Dystonias are relatively rare disorders characterized by sustained or intermittent muscle contractions causing abnormal movements or postures. Generalized dystonia is a therapeutic challenge because medications are unable to control dystonia adequately in most patients. These patients may be candidates for surgical therapy. The commonly used surgical procedures in these patients are pallidotomy and deep brain stimulation. Limited studies are available on the role of pallidotomy in children with acquired/heredodegenerative generalized dystonia. The objective of this study was to describe the authors' experience with bilateral pallidotomy in this group of patients. METHODS: The authors retrospectively reviewed all pediatric patients (less than 18 years of age) with acquired/heredodegenerative generalized dystonia who underwent bilateral simultaneous pallidotomy at their center between January 2014 and January 2021. Burke-Fahn-Marsden Dystonia Rating Scale (BFMDRS) scores before and after surgery were recorded. Complications arising after the procedure were recorded as well. RESULTS: Ten patients (8 male and 2 female) with a mean (range) age of 11.1 (5-17) years were included in this study. The mean duration between disease onset and surgical intervention was 3.9 years. Two patients presented in status dystonicus. The mean ± SD (range) preoperative BFMDRS score of the patients without status dystonicus (n = 8) was 80 ± 18.9 (59.5-108). The mean ± SD BFMDRS score at the time of discharge from the hospital after surgery was 58.8 ± 37.9. Three patients had more than 20% change in BFMDRS score at the time of discharge from the hospital. The mean improvement was 25.5% at the end of 1 year. Of 5 surviving patients in the non-status dystonicus group, 3 patients had more than 40% change in BFMDRS score while the other 2 patients developed recurrence at the last follow-up (4.5 years). Status dystonicus abated after bilateral pallidotomy in both patients. Permanent bulbar complications were seen in 2 patients. CONCLUSIONS: Bilateral pallidotomy may result in clinically significant improvement in children with acquired/heredodegenerative generalized dystonia, although the benefits should be closely weighed against the risk of irreversible bulbar dysfunction. It is a viable option for children in resource-limited settings.

Cerebellar Cortex Stimulation for Acquired Dystonia: A Case Report and Review of Its Role in Modern Surgical Practice.

BACKGROUND: Cerebral palsy (CP) is a common cause of acquired dystonia, which can lead to significant interference with quality of life and societal participation. In the last two decades, the surgical treatment of dystonia has primarily focused on deep brain stimulation targeting the basal ganglia and thalamic circuits. However, stimulation of the basal ganglia has generally been less effective in acquired combined forms of dystonia, including dystonic CP. These limitations, along with growing evidence for the role of the cerebellum in the pathophysiology of dystonia, have led to renewed interest in the cerebellum as a target for therapeutic stimulation in dystonia. Nevertheless, there are very few contemporary studies demonstrating its use. We present the case of a patient with generalized dystonia due to dyskinetic CP who was successfully treated with stimulation of the cerebellar cortex in the modern era. We also review the evidence underpinning targeting of the cerebellum in surgical therapy for dystonia and examine the latest reports of this approach in the surgical literature. SUMMARY: The patient derived significant improvement in the control of her dystonic symptoms, with a reduction in her BFMDRS score from 83 to 25. No complications were observed during more than 3 years of postoperative follow-up. Since the turn of the 21st century, there have been only 7 reports of cerebellar stimulation for dystonia, recruiting a total of 18 patients. These studies have exclusively targeted deep brain structures, making the present report of cortical cerebellar stimulation particularly unique. KEY MESSAGES: In the 21st century, cerebellar stimulation has predominantly been a second-line treatment for dystonia, after the failure of DBS targeting more mainstream loci within the thalamus and globus pallidus. However, there is increasing recognition of the role of the cerebellum in movement disorders, with multiple convergent lines of evidence supporting its involvement in dystonia pathophysiology. The cerebellum is worthy of greater consideration as a target for neurostimulation in dystonia, particularly in cases of acquired etiology.

Combined Unilateral Radiofrequency Lesioning of the Motor Thalamus, Field of Forel, and Zona Incerta: A Series of Cases With Dystonia.

BACKGROUND: Dystonia is a group of disorders characterized by involuntary slow repetitive twisting movements and/or abnormal posture. Surgical options such as neuromodulation through deep brain stimulation and neuroablative procedures are available for patients who do not respond to conservative treatment. OBJECTIVE: To present our series of patients with dystonia who were treated with stereotactic combined unilateral radiofrequency lesioning of the motor thalamus, field of Forel, and zona incerta. METHODS: Medical records of 50 patients with dystonia who were treated with unilateral combined lesions were reviewed. Outcomes of the surgical procedure were evaluated using the Burke-Fahn-Marsden Dystonia Rating Scale (with movement and disability subscales) and Unified Parkinson's Disease Rating Scale-tremor items. RESULTS: Based on the symptoms, patients were categorized as having generalized dystonia (34%), hemidystonia (30%), and dystonic tremor (DT) (36%). Primary/idiopathic dystonia, primary genetic/hereditary dystonia, and secondary dystonia accounted for 16%, 4%, and 80% of patients, respectively. The mean follow-up duration was 156.2 ± 88.9 mo. The overall improvement in the Burke-Fahn-Marsden Dystonia Rating Scale scores (movement and disability, respectively) was 57.8% and 36.4% in generalized dystonia, 60.0% and 45.8% in hemidystonia, and 65.6% and 56.8% in DT. Patients with DT showed an 83.3% improvement in mean Unified Parkinson's Disease Rating Scale tremor score. Patients with cerebral palsy showed mean improvements of 66.7% in movement scores and 50.8% in disability scores. No mortality or major morbidity was observed postoperatively. CONCLUSION: Stereotactic radiofrequency unilateral combined thalamotomy, campotomy, and zona incerta lesions may be an effective surgical alternative for patients with dystonia, especially those with secondary dystonia resistant to deep brain stimulation.

Should the Globus Pallidus Targeting Be Refined in Dystonia?

BACKGROUND AND STUDY AIMS: Deep brain stimulation (DBS) of the globus pallidus internus (GPi) is a highly effective therapy for primary generalized and focal dystonias, but therapeutic success is compromised by a nonresponder rate of up to 20%. Variability in electrode placement and in tissue stimulated inside the GPi may explain in part different outcomes among patients. Refinement of the target within the pallidal area could be helpful for surgery planning and clinical outcomes. The objective of this study was to discuss current and potential methodological (somatotopy, neuroimaging, and neurophysiology) aspects that might assist neurosurgical targeting of the GPi, aiming to treat generalized or focal dystonia. METHODS: We selected published studies by searching electronic databases and scanning the reference lists for articles that examined the anatomical and electrophysiologic aspects of the GPi in patients with idiopathic/inherited dystonia who underwent functional neurosurgical procedures. RESULTS: The sensorimotor sector of the GPi was the best target to treat dystonic symptoms, and was localized at its lateral posteroventral portion. The effective volume of tissue activated (VTA) to treat dystonia had a mean volume of 153 mm3 in the posterior GPi area. Initial tractography studies evaluated the close relation between the electrode localization and pallidothalamic tract to control dystonic symptoms.Regarding the somatotopy, the more ventral, lateral, and posterior areas of the GPi are associated with orofacial and cervical representation. In contrast, the more dorsal, medial, and anterior areas are associated with the lower limbs; between those areas, there is the representation of the upper limb. Excessive pallidal synchronization has a peak at the theta band of 3 to 8 Hz, which might be responsible for generating dystonic symptoms. CONCLUSIONS: Somatotopy assessment of posteroventral GPi contributes to target-specific GPi sectors related to segmental body symptoms. Tractography delineates GPi output pathways that might guide electrode implants, and electrophysiology might assist in pointing out areas of excessive theta synchronization. Finally, the identification of oscillatory electrophysiologic features that correlate with symptoms might enable closed-loop approaches in the future.

Specific movement and disability improvements in Burke-Fahn-Marsden Dystonia Rating Scale derived from pallidotomy in refractory patients to medical treatment.

BACKGROUND: Dystonia is a movement disorder associated with significant disability and is usually refractory to medical treatment. Pallidotomy may decrease dystonic movements. The aim of this study was to quantify movement and disability improvements through Burke-Fahn-Marsden Dystonia Rating Scale (BFMDRS). METHODS: We carried out a longitudinal clinical study in patients with refractory primary and secondary dystonia, who underwent radiofrequency (RF) unilateral and bilateral lesions on the postero-ventro-lateral globus pallidus internus (GPi), evaluating the outcomes through BFMDRS and variables as age, time of evolution, etiology, body distribution, planned target coordinates, and lesion size, during a mean follow-up time of 35.67 months. RESULTS: Nine RF pallidotomies were performed on 6 patients, 7 right-sided and 2 left-sided; three patients were treated unilaterally for one occasion, while the others underwent 2 surgeries, including one staged bilateral procedure. Mean BFMDRS scores for movement were 38.5 preoperative and 25.5 postoperative, and for disability were 20.4 preoperative and 17.3 postoperative. We noticed improvement in movement (32.54%, p = 0.001) and disability (17.23%, p = 0.002). There was one right GPi and internal capsule (IC) infarction with contralateral hemiparesis as sequelae. CONCLUSIONS: RF pallidotomy is an effective and accessible procedure to reduce BFMDRS scores in refractory dystonia if patients are correctly selected by severity, evolution, and disability as determining factors.

Correlates of deep brain stimulation consensus conference decision to treat primary dystonia.

BACKGROUND: Deep brain stimulation (DBS) is an effective treatment for motor disturbance in people with primary dystonia (PWD). Numerous factors are considered by an interdisciplinary consensus conference before deciding candidacy for DBS surgery (e.g., demographic, medical, cognitive, and behavioral factors). However, little is known about which of these factors are associated with PWD DBS surgery consensus conference decisions. OBJECTIVE: Our goal was to examine whether pre-operative demographic, medical, and cognitive/behavioral variables are associated DBS consensus conference decisions in patients with dystonia. METHODS: Thirty-two PWD completed comprehensive presurgery workup included neurological and neuropsychological exams, and neuroimaging in consideration for DBS surgery. An interdisciplinary conference committee either recommended or did not recommend DBS surgery based upon these data. Demographic and medical data (e.g., dystonia disease characteristics, medical comorbidities, medications) were also collected. We also examined impact from cardiovascular disease factors, using a Revised Cardiac Risk Index. PWD were grouped based on DBS conference decision (eligible: n = 21, ineligible: n = 11) and compared across demographic, medical, and cognitive/behavioral variables. RESULTS: Across clinical variables, PWD who were deemed ineligible for DBS surgery had a higher Revised Cardiac Risk Index. PWD who were classified as ineligible displayed lower global cognitive functioning, working memory, phonemic fluency, memory retrieval, and cognitive flexibility. CONCLUSIONS: Consensus decision making regarding DBS surgery eligibility involves a multifactorial process. We found that deficits in executive functioning were associated with the DBS consensus committee decision. We also observed elevated cardiac risk among these individuals, likely reflecting the relation between vascular health and cognition. Implications, and clinical and scientific applications of these findings are discussed.

Magnetic Resonance-Guided Focused Ultrasound Thalamotomy for Focal Hand Dystonia: A Pilot Study.

BACKGROUND: The efficacy of magnetic resonance-guided focused ultrasound (MRgFUS) thalamotomy for the treatment of focal hand dystonia (FHD) is not well known. OBJECTIVE: We aimed to prospectively investigate the efficacy of MRgFUS thalamotomy for the treatment of FHD. METHODS: We performed MRgFUS thalamotomy of the ventro-oral (Vo) nucleus in 10 patients with FHD. We evaluated the scores of the Writer's Cramp Rating Scale (WCRS, 0-30; higher scores indicating greater severity), Tubiana Musician's Dystonia Scale (TMDS, 0-5; lower scores indicating greater severity), and Arm Dystonia Disability Scale (ADDS, 0%-100%; lower scores indicating greater disability) at baseline and 3 and 12 months post-treatment. RESULTS: WCRS, TMDS, and ADDS scores significantly improved from 6.3 ± 2.7, 1.4 ± 0.5, and 58.7% ± 14.3% at baseline to 1.6 ± 3.1 (P = 0.011), 5.0 ± 0 (P = 0.0001), and 81.6% ± 22.9% (P = 0.0229) at 12 months, respectively. There was one prolonged case of dysarthria at 12 months. CONCLUSION: We show that MRgFUS Vo-thalamotomy significantly improved FHD. © 2021 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.

Targeting accuracy of robot-assisted deep brain stimulation surgery in childhood-onset dystonia: a single-center prospective cohort analysis of 45 consecutive cases.

OBJECTIVE: Deep brain stimulation (DBS) is an established treatment for pediatric dystonia. The accuracy of electrode implantation is multifactorial and remains a challenge in this age group, mainly due to smaller anatomical targets in very young patients compared to adults, and also due to anatomical abnormalities frequently associated with some etiologies of dystonia. Data on the accuracy of robot-assisted DBS surgery in children are limited. The aim of the current paper was to assess the accuracy of robot-assisted implantation of DBS leads in a series of patients with childhood-onset dystonia. METHODS: Forty-five children with dystonia undergoing implantation of DBS leads under general anesthesia between 2017 and 2019 were included. Robot-assisted stereotactic implantation of the DBS leads was performed. The final position of the electrodes was verified with an intraoperative 3D scanner (O-arm). Coordinates of the planned electrode target and actual electrode position were obtained and compared, looking at the radial error, depth error, absolute error, and directional error, as well as the euclidean distance. Functional assessment data prospectively collected by a multidisciplinary pediatric complex motor disorders team were analyzed with regard to motor skills, individualized goal achievement, and patients' and caregivers' expectations. RESULTS: A total of 90 DBS electrodes were implanted and 48.5% of the patients were female. The mean age was 11.0 ± 0.6 years (range 3-18 years). All patients received bilateral DBS electrodes into the globus pallidus internus. The median absolute errors in x-, y-, and z-axes were 0.85 mm (range 0.00-3.25 mm), 0.75 mm (range 0.05-2.45 mm), and 0.75 mm (range 0.00-3.50 mm), respectively. The median euclidean distance from the target to the actual electrode position was 1.69 ± 0.92 mm, and the median radial error was 1.21 ± 0.79. The robot-assisted technique was easily integrated into the authors' surgical practice, improving accuracy and efficiency, and reducing surgical time significantly along the learning curve. No major perioperative complications occurred. CONCLUSIONS: Robot-assisted stereotactic implantation of DBS electrodes in the pediatric age group is a safe and accurate surgical method. Greater accuracy was present in this cohort in comparison to previous studies in which conventional stereotactic frame-based techniques were used. Robotic DBS surgery and neuroradiological advances may result in further improvement in surgical targeting and, consequently, in better clinical outcome in the pediatric population.

Comparative connectivity correlates of dystonic and essential tremor deep brain stimulation.

The pathophysiology of dystonic tremor and essential tremor remains partially understood. In patients with medication-refractory dystonic tremor or essential tremor, deep brain stimulation (DBS) targeting the thalamus or posterior subthalamic area has evolved into a promising treatment option. However, the optimal DBS targets for these disorders remains unknown. This retrospective study explored the optimal targets for DBS in essential tremor and dystonic tremor using a combination of volumes of tissue activated estimation and functional and structural connectivity analyses. We included 20 patients with dystonic tremor who underwent unilateral thalamic DBS, along with a matched cohort of 20 patients with essential tremor DBS. Tremor severity was assessed preoperatively and approximately 6 months after DBS implantation using the Fahn-Tolosa-Marin Tremor Rating Scale. The tremor-suppressing effects of DBS were estimated using the percentage improvement in the unilateral tremor-rating scale score contralateral to the side of implantation. The optimal stimulation region, based on the cluster centre of gravity for peak contralateral motor score improvement, for essential tremor was located in the ventral intermediate nucleus region and for dystonic tremor in the ventralis oralis posterior nucleus region along the ventral intermediate nucleus/ventralis oralis posterior nucleus border (4 mm anterior and 3 mm superior to that for essential tremor). Both disorders showed similar functional connectivity patterns: a positive correlation between tremor improvement and involvement of the primary sensorimotor, secondary motor and associative prefrontal regions. Tremor improvement, however, was tightly correlated with the primary sensorimotor regions in essential tremor, whereas in dystonic tremor, the correlation was tighter with the premotor and prefrontal regions. The dentato-rubro-thalamic tract, comprising the decussating and non-decussating fibres, significantly correlated with tremor improvement in both dystonic and essential tremor. In contrast, the pallidothalamic tracts, which primarily project to the ventralis oralis posterior nucleus region, significantly correlated with tremor improvement only in dystonic tremor. Our findings support the hypothesis that the pathophysiology underpinning dystonic tremor involves both the cerebello-thalamo-cortical network and the basal ganglia-thalamo-cortical network. Further our data suggest that the pathophysiology of essential tremor is primarily attributable to the abnormalities within the cerebello-thalamo-cortical network. We conclude that the ventral intermediate nucleus/ventralis oralis posterior nucleus border and ventral intermediate nucleus region may be a reasonable DBS target for patients with medication-refractory dystonic tremor and essential tremor, respectively. Uncovering the pathophysiology of these disorders may in the future aid in further improving DBS outcomes.

Safety and efficacy of unilateral and bilateral pallidotomy for primary dystonia.

OBJECTIVE: Ablation of the globus pallidus internus (pallidotomy) is an effective surgical intervention for dystonia. However, the current literature on the efficacy and safety of pallidotomy for dystonia is derived only from single-case reports and small cohort studies. METHODS: We retrospectively analyzed patients with primary dystonia who underwent pallidotomy at our institution between 2014 and 2019. Neurological conditions were evaluated using the Burke-Fahn-Marsden Dystonia Rating Scale (BFMDRS, range: 0-120). We evaluated the total BFMDRS score and each subitem score (nine body regions) in the patients who underwent unilateral and bilateral pallidotomy before surgery and at last available follow-up. Moreover, postoperative complications were analyzed. RESULTS: We found that 69 and 20 patients underwent unilateral and bilateral pallidotomy respectively. The mean age at dystonia onset was 40.4 ± 15.2 years. The mean clinical follow-up period was 17.2 ± 11.6 months. Unilateral pallidotomy significantly improved the total BFMDRS score from 11.2 ± 14.7 preoperatively to 5.4 ± 7.6 at last available follow-up (51.8% improvement, p < 0.001). Furthermore, there was a significant and independent improvement in all midline BFMDRS subitems, including eyes, mouth, speech/swallow, and neck, after unilateral pallidotomy. Bilateral pallidotomy significantly improved the total BFMDRS score from 14.6 ± 10.2 preoperatively to 3.8 ± 8.2 at last available follow-up (74.0% improvement, p < 0.001). However, bilateral pallidotomy induced medically refractory parkinsonism (postural instability and gait disturbance) in five patients, dysarthria in three patients, and dysphagia in one patient. INTERPRETATION: Unilateral radiofrequency pallidotomy remains a viable treatment option for patients with some forms of dystonia. Bilateral pallidotomy cannot be recommended due to unacceptably high complication rates.

Deep brain stimulation for myoclonus dystonia syndrome: a meta-analysis with individual patient data.

Good outcomes have been reported in deep brain stimulation (DBS) for myoclonus-dystonia syndrome (M-D), a heritable disease characterized by childhood-onset myoclonic jerks and dystonia in the upper body. This meta-analysis was to evaluate the clinical outcomes consecutively, compare the stimulation targets, and identify potential prognostic factors. A systematic literature search was performed on PubMed, Web of Science, and Embase. The primary outcome was the percent improvement in Burke-Fahn-Marsden Dystonia Rating Scale movement (BFMDRS-M) scores for dystonia and Unified Myoclonus Rating Scale (UMRS) scores for myoclonus at the last follow-up visit. BFMDRS-disability scores of the patients were also summarized. Pearson correlation analyses were performed to identify the myoclonus and dystonia outcome predictors. Thirty-one studies reporting 71 patients were included. There were significant improvements in BFMDRS-M and BFMDRS-disability scores in each time category and at the last follow-up visit. Mean improvement (%) in UMRS was 79.5 ± 18.2, and 94.1% of the patients showed > 50% improvement in UMRS scores at the last follow-up visit. There was a significant trend toward improved myoclonus outcome with older age at onset and shorter disease duration. Most of the adverse events were mild and transient, and pallidal stimulation seemed to be better with respect to fewer stimulation-induced events. Based on the current data, DBS is effective for even the severe M-D. Surgery at an early stage may predict a better outcome. Although targets do not serve as the outcome predictors, pallidal stimulation may be preferred due to fewer stimulation-induced events.

Successful Unilateral Surgical Approach to Internal Globus Pallidus and Ventral Intermediate Nucleus of the Thalamus in 3 Cases of Myoclonus-Dystonia Syndrome.

Surgical approaches of internal globus pallidus (GPi) and ventral intermediate thalamic nucleus (Vim) have been used to treat different movement disorders. Three subjects with myoclonus-dystonia syndrome were surgically treated, one of them with GPi and Vim stimulation, while radiofrequency ablation of these structures was performed in the other 2 subjects. Surgical approach of both targets was performed simultaneously on each subject. Mean follow-up was of 33.3 months (22-48 months), the Unified Myoclonus Rating Scale action myoclonus (AM), functional tests (FT), patient questionnaire (PQ) sub-scores, and the Unified Dystonia Rating Scale (UDRS) were used during assessments. Improvement in all scales were seen 6 months after surgery (AM: 74%, FT: 60%, PQ: 63%, UDRS: 65%), and this benefit persisted throughout follow-up (AM: 61%, FT:62%, PQ: 65%, UDRS: 86%). No adverse events were noticed. Simultaneous unilateral procedures of GPi and Vim by either stimulation or ablation techniques improve both motor and functional scores in myoclonus-dystonia syndrome.