Stereotactic and Functional Neurosurgery最新文献

{"title":"What Is \"Advanced\" Parkinson's Disease? Defining What Determines Medicare Coverage for Deep Brain Stimulation in the USA.","authors":"Francisco A Ponce, Holly A Shill","doi":"10.1159/000540873","DOIUrl":"https://doi.org/10.1159/000540873","url":null,"abstract":"<p><strong>Background: </strong>The National Coverage Determination (NCD) by the Centers for Medicare and Medicaid Services (CMS) for deep brain stimulation requires that a patient have \"advanced idiopathic Parkinson's disease (PD) as determined by Hoehn and Yahr (HY) stage or the Unified Parkinson's Disease Rating Scale part III motor subscale (UPDRS III).\" How to apply the HY or UPDRS III scales to define \"advanced\" PD is unclear.</p><p><strong>Summary: </strong>There is an ongoing recovery audit by the CMS of deep brain stimulation cases that were covered by Medicare but are deemed not to have met the NCD requirements and therefore not to have been medically necessary. Whether a hospital is asked to refund Medicare often hinges upon whether medical documentation supports the diagnosis of advanced PD. However, neither the HY nor the UPDRS III scales use \"advanced\" to define or describe stages of PD. The NCD has an accompanying National Coverage Analysis that reviews the studies that inform the NCD. These studies use \"advanced\" as well as the HY and UPDRS III scales. This review identifies how the HY and UPDRS III scales were used to categorize advanced PD in the studies that were cited in the National Coverage Analysis.</p><p><strong>Key messages: </strong>In the studies used for the NCD for deep brain stimulation for PD, an HY score ≥3 or a UPDRS III score ≥30 was used to describe patient cohorts considered to have advanced PD.</p>","PeriodicalId":22078,"journal":{"name":"Stereotactic and Functional Neurosurgery","volume":null,"pages":null},"PeriodicalIF":1.9,"publicationDate":"2024-09-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142141108","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Bilateral Anterior Capsulotomy for Treatment-Resistant Obsessive-Compulsive Disorder.","authors":"Trevor Hurwitz, Geoffrey Ching, Nicholas Mark Bogod, Christopher R Honey","doi":"10.1159/000540503","DOIUrl":"10.1159/000540503","url":null,"abstract":"<p><strong>Introduction: </strong>Ablative surgery is an intervention of last resort for treatment-resistant obsessive-compulsive disorder (TROCD). Our center has been using bilateral anterior capsulotomy (BAC) for the past 20 years for patients eligible for limbic surgery. This report details our experience with BAC for TROCD.</p><p><strong>Method: </strong>Five patients with OCD met eligibility criteria for BAC. Entry protocols were complex and took around 6 months to complete. Stereotactic radiofrequency was used to produce the capsulotomies. Lesion length varied between 5.7 and 16.9 mm in the coronal plane. Patients were followed between 4 and 20 years.</p><p><strong>Results: </strong>All 5 patients (100%) were responders as defined by the widely accepted criteria of a reduction of ≥35% in Yale-Brown Obsessive Compulsive Scale (YBOCS) score at 18-month follow-up. Four patients remained responders at the 48 months. One patient was lost to follow-up. Responder status when viewed from the perspective of the YBOCS was sustained over the 4- to 20-year follow-up with one relapse 19 years postsurgery when medications were discontinued. Real-world psychiatric outcomes were different as other vulnerabilities surfaced illustrating the multifactorial determinants of mental health. No patient had any significant long-term neurocognitive or physical side effects.</p><p><strong>Conclusion: </strong>BAC should remain an option of last resort for patients with severe OCD who remain unresponsive to all other interventions.</p>","PeriodicalId":22078,"journal":{"name":"Stereotactic and Functional Neurosurgery","volume":null,"pages":null},"PeriodicalIF":1.9,"publicationDate":"2024-08-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142056584","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Combination of or Transition between Deep Brain Stimulation and Responsive Neurostimulation for the Treatment of Drug-Resistant Epilepsy.","authors":"Jimmy C Yang, Henry Skelton, Faical Isbaine, Katie L Bullinger, Abdulrahman Alwaki, Brian T Cabaniss, Jon T Willie, Robert E Gross","doi":"10.1159/000540431","DOIUrl":"10.1159/000540431","url":null,"abstract":"<p><strong>Introduction: </strong>Neuromodulation is an important treatment modality for patients with drug-resistant epilepsy who are not candidates for resective or ablative procedures. However, randomized controlled trials and real-world studies reveal that a subset of patients will experience minimal reduction or even an increase in seizure frequency after neuromodulation. We describe our experience with patients who undergo a second intracranial neuromodulation procedure after unsatisfactory initial response to intracranial neuromodulation.</p><p><strong>Methods: </strong>We performed a retrospective chart review to identify all patients who had undergone deep brain stimulation (DBS) of the anterior nucleus of the thalamus (ANT) or responsive neurostimulation (RNS), followed by additional intracranial neuromodulatory procedures, with at least 12 months of follow-up. Demographic and clinical data, including seizure frequencies, were collected.</p><p><strong>Results: </strong>All patients had temporal lobe epilepsy. Six patients were treated with concurrent ANT DBS and temporal lobe RNS, and 3 patients transitioned between neuromodulation systems. Of the patients treated concurrently with ANT DBS and temporal lobe RNS, 5 of the 6 patients experienced additional reduction in seizure frequency after adding a second neuromodulation system. Of the patients who switched between neuromodulation modalities, all patients experienced further reduction in seizure frequency.</p><p><strong>Conclusions: </strong>For patients who do not experience adequate benefit from initial therapy with ANT DBS or temporal lobe RNS, the addition of a neuromodulation system or switching to a different form of neuromodulation may allow for additional reduction in seizure frequency. Larger studies will need to be performed to understand whether the use of multiple systems concurrently leads to improved clinical results in patients who are initially treatment resistant to neuromodulation.</p>","PeriodicalId":22078,"journal":{"name":"Stereotactic and Functional Neurosurgery","volume":null,"pages":null},"PeriodicalIF":1.9,"publicationDate":"2024-08-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142475229","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Non-Motor Effects of Low-Frequency Deep Brain Stimulation of the Subthalamic Nucleus in Parkinson's Disease: A Systematic Review.","authors":"Kenneth Ong, Franziska Schmidt, Kira Tosefsky, Muhammad Faran, Can Sarica, Christopher R Honey, Fidel Vila-Rodriguez, Stefan Lang","doi":"10.1159/000540210","DOIUrl":"https://doi.org/10.1159/000540210","url":null,"abstract":"<p><strong>Introduction: </strong>Deep brain stimulation of the subthalamic nucleus is an effective therapy for the motor symptoms of Parkinson's disease (PD). Typically, stimulation is applied at a high frequency (≥100 Hz) to alleviate motor symptoms. However, the effects on non-motor symptoms can be variable. Low-frequency oscillations are increasingly recognized as playing an important role in the non-motor functions of the subthalamic nucleus. Therefore, it has been hypothesized that low-frequency stimulation of the subthalamic nucleus (&lt;100 Hz) may have a direct effect on these non-motor functions, thereby preferentially impacting non-motor symptoms of PD. Despite important therapeutic implications, the literature on this topic has not been summarized.</p><p><strong>Method: </strong>To understand the current state of the field, we performed a comprehensive systematic review of the literature assessing the non-motor effects of low-frequency stimulation of the subthalamic nucleus in PD. We performed a supplementary meta-analysis to assess the effects of low- versus high-frequency stimulation on verbal fluency outcomes.</p><p><strong>Results: </strong>Our search returned 7,009 results, of which we screened 4,199 results. A total of 145 studies were further assessed for eligibility, and a total of 21 studies met our inclusion criteria, representing 297 patients. These studies were a mix of case reports and control trials. The four clinical outcomes measured were sleep, sensory perception, cognition, and mood. A supplementary meta-analysis of six studies investigating the impact of low-frequency stimulation on verbal fluency did not find any significant results when pooling across subgroups.</p><p><strong>Conclusion: </strong>LFS of the STN may have benefits on a range of cognitive and affective symptoms in PD. However, current studies in this space are heterogeneous, and the effect sizes are small. Factors that impact outcomes can be divided into stimulation and patient factors. Future work should consider the interactions between stimulation location and stimulation frequency as well as how these interact depending on the specific non-motor phenotype.</p>","PeriodicalId":22078,"journal":{"name":"Stereotactic and Functional Neurosurgery","volume":null,"pages":null},"PeriodicalIF":1.9,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141875957","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Magnetic Resonance-Guided Focused Ultrasound without Anesthesiologist Support.","authors":"Julia M Mueller, Lucinda T Chiu, Fiona Lynn, Rachel G Lewis, Shama Patel, Matthew Wodziak, Neepa Patel, Sepehr Sani","doi":"10.1159/000537695","DOIUrl":"https://doi.org/10.1159/000537695","url":null,"abstract":"INTRODUCTION\u0000Magnetic resonance-guided focused ultrasound (MRgFUS) is an effective treatment option for essential tremor (ET) and tremor dominant Parkinson's disease (TDPD), which is often performed with sedation or in the presence of an anesthesiologist in an effort to minimize adverse events and maximize patient comfort. This study explores the safety, feasibility, and tolerability of performing MRgFUS without an anesthesiologist.\u0000\u0000\u0000METHODS\u0000This is a single academic center, retrospective review of 180 ET and TDPD patients who underwent MRgFUS treatment without anesthesiologist support. Patient demographics, intra-procedural treatment parameters, peri-procedural adverse events, and 3-month Clinical Rating Scale for Tremor Part B (CRST-B) scores were compared to MRgFUS studies that utilized varying degrees of anesthesia.\u0000\u0000\u0000RESULTS\u0000There were no anesthesia related adverse events or unsuccessful treatments. There were no early treatment terminations due to patient discomfort, regardless of skull density ratio. 94.6% of patients would repeat the procedure again. The most common side effects during treatment were facial/tongue paresthesia (26.3%), followed by nausea (22.3%), dysarthria (8.6%), and scalp pain (8.0%). No anxiolytic, pain, or antihypertensive medications were administered. The most common early adverse event after MRgFUS procedure was gait imbalance (58.3%). There was a significant reduction of 83.1% (83.4% ET and 80.5% TDPD) of the mean CRST-B scores of the treated hand when comparing 3-month and baseline scores (1.8 vs. 10.9, n = 109, p < 0.0001).\u0000\u0000\u0000CONCLUSION\u0000MRgFUS without intra-procedural anesthesiologist support is a safe, feasible, and well-tolerated option, without an increase in peri-procedural adverse events.","PeriodicalId":22078,"journal":{"name":"Stereotactic and Functional Neurosurgery","volume":null,"pages":null},"PeriodicalIF":1.7,"publicationDate":"2024-04-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140664387","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Efficacy and Challenges: Minimally Invasive Procedures for Trigeminal Neuralgia Treatment in Multiple Sclerosis - A Systematic Review and Meta-Analysis.","authors":"Masoud SohrabiAsl, Mohammad Shirani, Amin Jahanbakhshi, Arad Iranmehr","doi":"10.1159/000538516","DOIUrl":"https://doi.org/10.1159/000538516","url":null,"abstract":"INTRODUCTION\u0000Trigeminal neuralgia (TGN) poses a therapeutic challenge, particularly within the context of multiple sclerosis (MS). This study aimed to conduct a comprehensive meta-analysis and systematic review of four less-invasive treatment modalities for TGN in MS patients, namely, gamma knife radiosurgery (GKRS), glycerol rhizotomy (GR), balloon compression (BC), and radiofrequency ablation (RFA).\u0000\u0000\u0000METHODS\u0000Single-armed meta-analyses were employed to assess the overall efficacy of each treatment, while double-armed analyses compared the efficacy between different treatment options in double-armed studies. Outcome evaluations included acute pain relief (within 1 month post-procedure), recurrence rates throughout 18 months of follow-up, and reported complication rates.\u0000\u0000\u0000RESULTS\u0000The meta-analysis revealed diverse outcomes for each intervention. GKRS demonstrated favorable outcomes, achieving a 77% success rate in alleviating pain among a pooled cohort of 863 patients, reinforcing its status as a viable therapeutic option. Additionally, GR, BC, and RFA exhibited efficacy, with success rates of 77%, 71%, and 80%, respectively, based on outcomes observed in 611, 385, and 203 patients. Double-armed analyses highlighted distinctions between the treatments, providing nuanced insights for clinical decision-making.\u0000\u0000\u0000CONCLUSION\u0000This meta-analysis provides a comprehensive overview of less-invasive treatments for TGN in MS patients. GKRS emerges as a leading option with comparable efficacy and fewer complications. However, the study underscores the nuanced efficacy and considerations associated with GR, BC, and RFA. The findings offer valuable insights for clinicians navigating treatment choices in this challenging patient population, considering acute pain relief, recurrence rates, and complication profiles.","PeriodicalId":22078,"journal":{"name":"Stereotactic and Functional Neurosurgery","volume":null,"pages":null},"PeriodicalIF":1.7,"publicationDate":"2024-04-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140675963","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Awake versus Asleep Anesthesia in Deep Brain Stimulation Surgery for Parkinson's Disease: A Systematic Review and Meta-Analysis.","authors":"Michelle L Lim, Angela B B Zhan, Sherry J Liu, Seyed E Saffari, Wei Li, Mavis M Teo, Theodore G-L Wong, Wai H Ng, Kai R Wan","doi":"10.1159/000536310","DOIUrl":"https://doi.org/10.1159/000536310","url":null,"abstract":"INTRODUCTION\u0000Deep brain stimulation (DBS) is a well-established surgical therapy for patients with Parkinsons' Disease (PD). Traditionally, DBS surgery for PD is performed under local anesthesia, whereby the patient is awake to facilitate intraoperative neurophysiological confirmation of the intended target using microelectrode recordings. General anesthesia allows for improved patient comfort without sacrificing anatomic precision and clinical outcomes.\u0000\u0000\u0000METHODS\u0000We performed a systemic review and meta-analysis on patients undergoing DBS for PD. Published randomized controlled trials, prospective and retrospective studies, and case series which compared asleep and awake techniques for patients undergoing DBS for PD were included. A total of 19 studies and 1,900 patients were included in the analysis.\u0000\u0000\u0000RESULTS\u0000We analyzed the (i) clinical effectiveness - postoperative UPDRS III score, levodopa equivalent daily doses and DBS stimulation requirements. (ii) Surgical and anesthesia related complications, number of lead insertions and operative time (iii) patient's quality of life, mood and cognitive measures using PDQ-39, MDRS, and MMSE scores. There was no significant difference in results between the awake and asleep groups, other than for operative time, for which there was significant heterogeneity.\u0000\u0000\u0000CONCLUSION\u0000With the advent of newer technology, there is likely to have narrowing differences in outcomes between awake or asleep DBS. What would therefore be more important would be to consider the patient's comfort and clinical status as well as the operative team's familiarity with the procedure to ensure seamless transition and care.","PeriodicalId":22078,"journal":{"name":"Stereotactic and Functional Neurosurgery","volume":null,"pages":null},"PeriodicalIF":1.7,"publicationDate":"2024-04-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140687247","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Learning Curves during Implementation of Robotic Stereotactic Surgery.","authors":"Kevin Hines, Rupert D Smit, Shreya Vinjamuri, Arbaz A Momin, Islam Fayed, Kenechi Ebede, Ahmet F Atik, Caio Marconato Matias, Ashwini Sharan, Chengyuan Wu","doi":"10.1159/000538379","DOIUrl":"10.1159/000538379","url":null,"abstract":"<p><strong>Introduction: </strong>Adoption of robotic techniques is increasing for neurosurgical applications. Common cranial applications include stereoelectroencephalography (sEEG) and deep brain stimulation (DBS). For surgeons to implement robotic techniques in these procedures, realistic learning curves must be anticipated for surgeons to overcome the challenges of integrating new techniques into surgical workflow. One such way of quantifying learning curves in surgery is cumulative sum (CUSUM) analysis.</p><p><strong>Methods: </strong>Here, the authors present retrospective review of stereotactic cases to perform a CUSUM analysis of operative time for robotic cases at a single institution performed by 2 surgeons. The authors demonstrate learning phase durations of 20 and 16 cases in DBS and sEEG, respectively.</p><p><strong>Results: </strong>After plateauing of operative time, mastery phases started at cases 132 and 72 in DBS and sEEG. A total of 273 cases (188 DBS and 85 sEEG) were included in the study. The authors observed a learning plateau concordant with change of location of surgery after exiting the learning phase.</p><p><strong>Conclusion: </strong>This study demonstrates the learning curve of 2 stereotactic workflows when integrating robotics as well as being the first study to examine the robotic learning curve in DBS via CUSUM analysis. This work provides data on what surgeons may expect when integrating this technology into their practice for cranial applications.</p>","PeriodicalId":22078,"journal":{"name":"Stereotactic and Functional Neurosurgery","volume":null,"pages":null},"PeriodicalIF":1.9,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140912719","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Mapping of Capsular Side Effects by using Intraoperative Motor-Evoked Potentials during Asleep Deep Brain Stimulation Surgery of the Subthalamic Nucleus for Parkinson's Disease.","authors":"Petar Antoan Karazapryanov, Kaloyan Rumenov Gabrovski, Yoana Milenova, Velislav Kirilov Pavlov, Alexander Karameshev, Maria Damianova, Stanimir Sirakov, Krasimir Minkin","doi":"10.1159/000539433","DOIUrl":"10.1159/000539433","url":null,"abstract":"<p><strong>Introduction: </strong>The aim of this study was to present a novel technique for subthalamic nucleus (STN) deep brain stimulation (DBS) implantation under general anesthesia by using intraoperative motor-evoked potentials (MEPs) through direct lead stimulation and determining their correlation to the thresholds of postoperative stimulation-induced side effects.</p><p><strong>Methods: </strong>This study included 22 consecutive patients with advanced Parkinson's disease who underwent surgery in our institution between January 2021 and September 2023. All patients underwent bilateral implantation in the STN (44 leads) under general anesthesia without microelectrode recordings (MERs) by using MEPs with electrostimulation directly through the DBS lead. No cortical stimulation was performed during this process. Intraoperative fluoroscopic guidance and immediate postoperative computed tomography were used to verify the electrode's position. The lowest MEP thresholds were recorded and were correlated to the postoperative stimulation-induced side-effect threshold. The predictive values of the MEPs were analyzed. Five DBS leads were repositioned intraoperatively due to the MEP results.</p><p><strong>Results: </strong>A moderately strong positive correlation was found between the MEP threshold and the capsular side-effect threshold (RS = 0.425, 95% CI, 0.17-0.67, p = 0.004). The highest sensitivity and specificity for predicting a side-effect threshold of 5 mA were found to be at 2.4 mA MEP threshold (sensitivity 97%, specificity 87.5%, positive predictive value 97%, and negative predictive value 87.5%). We also found high sensitivity and specificity (100%) at 1.15 mA MEP threshold and 3 mA side-effect threshold. Out of the total 44 leads, 5 (11.3%) leads were repositioned intraoperatively due to MEP thresholds lower than 1 mA (4 leads) or higher than 5 mA (1 lead). The mean accuracy on postoperative CT was 1.05 mm, and there were no postoperative side-effects under 2.8 mA.</p><p><strong>Conclusion: </strong>Intraoperative MEPs with electrostimulation directly through the contacts of the DBS lead correlate with the stimulation-induced capsular side effects. The lead reposition based on intraoperative MEP may enlarge the therapeutic window of DBS stimulation.</p>","PeriodicalId":22078,"journal":{"name":"Stereotactic and Functional Neurosurgery","volume":null,"pages":null},"PeriodicalIF":1.9,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141459406","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Deep Brain Stimulation of the Globus Pallidus Internus in a Child with Refractory Dystonia due to L2-Hydroxyglutaric Aciduria.","authors":"Abdullah Alamri, Sara Breitbart, Nebras Warsi, Eriberto Rayco, George Ibrahim, Alfonso Fasano, Carolina Gorodetsky","doi":"10.1159/000538418","DOIUrl":"10.1159/000538418","url":null,"abstract":"<p><strong>Introduction: </strong>L-2-hydroxyglutaric aciduria (L2HGA) is a rare neurometabolic disorder marked by progressive and debilitating psychomotor deficits. Here, we report the first patient with L2HGA-related refractory dystonia that was managed with deep brain stimulation to the bilateral globus pallidus internus (GPi-DBS).</p><p><strong>Case presentation: </strong>We present a 17-year-old female with progressive decline in cognitive function, motor skills, and language ability which significantly impaired activities of daily living. Neurological exam revealed generalized dystonia, significant choreic movements in the upper extremities, slurred speech, bilateral dysmetria, and a wide-based gait. Brisk deep tendon reflexes, clonus, and bilateral Babinski signs were present. Urine 2-OH-glutaric acid level was significantly elevated. Brain MRI showed extensive supratentorial subcortical white matter signal abnormalities predominantly involving the U fibers and bilateral basal ganglia. Genetic testing identified a homozygous pathogenic mutation in the L-2-hydroxyglutarate dehydrogenase gene c. 164G&gt;A (p. Gly55Asp). Following minimal response to pharmacotherapy, GPi-DBS was performed. Significant increases in mobility and decrease in dystonia were observed at 3 weeks, 6 months, and 12 months postoperatively.</p><p><strong>Conclusion: </strong>This is the first utilization of DBS as treatment for L2HGA-related dystonia. The resulting significant improvements indicate that pallidal neuromodulation may be a viable option for pharmaco-resistant cases, and possibly in other secondary metabolic dystonias.</p>","PeriodicalId":22078,"journal":{"name":"Stereotactic and Functional Neurosurgery","volume":null,"pages":null},"PeriodicalIF":1.9,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11309047/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140877361","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}