scholarly journals Deep Brain Stimulation for Generalized Dystonia from Secondary Carnitine Deficiency: A Case Report and Literature Review.

2021 ◽  
Author(s):  
Yixuan Zhang ◽  
Laura Sperry ◽  
Michelle Chan ◽  
Suma Shankar ◽  
Norika Malhado-Chang ◽  
...  
Keyword(s):  
Deep Brain Stimulation ◽  
Literature Review ◽  
Organic Acid ◽  
Brain Stimulation ◽  
Metabolic Disorder ◽  
Carnitine Deficiency ◽  
Secondary Dystonia ◽  
Generalized Seizures ◽  
Primary Dystonia ◽  
Deep Brain

Abstract BACKGROUND: Carnitine deficiencies result from a metabolic disorder of fatty acid β-oxidation and may lead to organic acidemia, which are thought to be associated with dystonia, epilepsy, autism and developmental delay. Pharmacotherapy has been the dominant therapy, while many refractory patients still require other treatment. Deep brain stimulation (DBS) of the globus pallidus internus (GPi) has been found to be effective for medically refractory primary dystonia and now it has been proposed to be used for secondary dystonia from mitochondrial metabolic disorder. OBJECTIVE: To investigate the efficacy and safety of DBS treatment in secondary dystonia from organic acid metabolic disorder. METHODS: We present a patient born with secondary carnitine deficiency who had the onset of generalized seizures at age 4.5 months and developed torsion dystonia at age 14. Multiple medical therapies failed to adequately control her symptoms, therefore she received GPi DBS at age 26 years. In addition, we performed a literature review of this therapy in the treatment of organic acid metabolic disorder. RESULTS: Our patient’s dystonia resolved without side effects post-DBS surgery, but intermittent spastic symptoms along with severe pain in her lower extremity persist. Concerning the 8 cases from our literature review, 7 received GPi DBS, and had improvement in motor symptoms. Overall, DBS efficacy was lower than in treatment of primary dystonia. One patient with methylmalonic acidemia received STN DBS and had marked improvement in dystonia and reduction in pain afterwards. CONCLUSION: DBS has become an effective therapy in refractory secondary dystonia from organic acid metabolic disorder. More prospective studies are needed to determine the eligibility and efficacy of this surgical therapy in these cases.

Clinical phenotypes associated with outcomes following deep brain stimulation for childhood dystonia

2019 ◽  
Vol 24 (4) ◽  
pp. 442-450 ◽  
Author(s):  
Jetan H. Badhiwala ◽  
Brij Karmur ◽  
Lior M. Elkaim ◽  
Naif M. Alotaibi ◽  
Benjamin R. Morgan ◽  
...  
Keyword(s):  
Deep Brain Stimulation ◽  
Brain Stimulation ◽  
Latent Variables ◽  
Rating Scale ◽  
Significant Heterogeneity ◽  
Secondary Dystonia ◽  
Primary Dystonia ◽  
Relative Change ◽  
Deep Brain

OBJECTIVEAlthough deep brain stimulation (DBS) is an accepted treatment for childhood dystonia, there is significant heterogeneity in treatment response and few data are available to identify ideal surgical candidates.METHODSData were derived from a systematic review and individual patient data meta-analysis of DBS for dystonia in children that was previously published. Outcomes were assessed using the Burke-Fahn-Marsden Dystonia Rating Scale for movement (BFMDRS-M) and for disability (BFMDRS-D). The authors used partial least squares, bootstrapping, and permutation statistics to extract patterns of contributions of specific preoperative characteristics to relationship with distinct outcomes, in all patients and in patients with primary and secondary dystonia separately.RESULTSOf 301 children undergoing DBS for dystonia, 167 had primary dystonia, 125 secondary dystonia, and 9 myoclonus dystonia. Three dissociable preoperative phenotypes (latent variables) were identified and associated with the following: 1) BFMDRS-M at last follow-up; 2) relative change in BFMDRS-M score; and 3) relative change in BFMDRS-D score. The phenotype of patients with secondary dystonia, with a high BFMDRS-M score and truncal involvement, undergoing DBS at a younger age, was associated with a worse postoperative BFMDRS-M score. Children with primary dystonia involving the trunk had greater improvement in BFMDRS-M and -D scores. Those with primary dystonia of shorter duration and proportion of life with disease, undergoing globus pallidus DBS, had greater improvements in BFMDRS-D scores at long-term follow-up.CONCLUSIONSIn a comprehensive, data-driven, multivariate analysis of DBS for childhood dystonia, the authors identified novel and dissociable patient phenotypes associated with distinct outcomes. The findings of this report may inform surgical candidacy for DBS.

Primary Dystonia Is More Responsive than Secondary Dystonia to Pallidal Interventions: Outcome after Pallidotomy or Pallidal Deep Brain Stimulation

Neurosurgery ◽  
2004 ◽  
Vol 54 (3) ◽  
pp. 613-621 ◽  
Author(s):  
Hazem A. Eltahawy ◽  
Jean Saint-Cyr ◽  
Nir Giladi ◽  
Anthony E. Lang ◽  
Andres M. Lozano
Keyword(s):  
Magnetic Resonance Imaging ◽  
Deep Brain Stimulation ◽  
Magnetic Resonance ◽  
Brain Stimulation ◽  
Rating Scale ◽  
Resonance Imaging ◽  
Secondary Dystonia ◽  
Primary Dystonia ◽  
Pallidal Deep Brain Stimulation ◽  
Deep Brain

Abstract OBJECTIVE The response of patients with dystonia to pallidal procedures is not well understood. In this study, we assessed the postoperative outcome of patients with primary and secondary dystonia undergoing pallidotomy or pallidal deep brain stimulation. METHODS Fifteen patients with dystonia had pallidal surgery (lesions or deep brain stimulation). These included nine patients with primary dystonia (generalized and cervical dystonias) and six with secondary dystonia (generalized, segmental, and hemidystonias). There were nine male patients and six female patients. The mean age at onset was 21 years for primary dystonia and 18 years for secondary dystonia. The primary outcome measure was a Global Outcome Scale score for dystonia at 6 months after surgery. Other outcome measures were the Burke-Fahn-Marsden Dystonia Rating Scale and Toronto Western Spasmodic Torticollis Rating Scale scores. RESULTS The mean Global Outcome Scale score at 6 months for patients with primary dystonia was 3 (improvement in both movement disorder and function). In contrast, patients with secondary dystonia had a mean score of 0.83 (mild or no improvement in movement disorder with no functional improvement). All patients with primary dystonia had normal brains by magnetic resonance imaging, whereas five of six patients with secondary dystonia had basal ganglia abnormalities on their magnetic resonance imaging scans. CONCLUSION This study indicates that primary dystonia responds much better than secondary dystonia to pallidal procedures. We could not distinguish a difference in efficacy between pallidotomy and pallidal deep brain stimulation. The presence of basal ganglia abnormalities on the preoperative magnetic resonance imaging scan is an indicator of a lesser response to pallidal interventions for dystonia.

Deep brain stimulation in children: experience and technical pearls

2011 ◽  
Vol 8 (6) ◽  
pp. 566-574 ◽  
Author(s):  
Ellen L. Air ◽  
Jill L. Ostrem ◽  
Terence D. Sanger ◽  
Philip A. Starr
Keyword(s):  
Deep Brain Stimulation ◽  
Surgical Technique ◽  
Brain Stimulation ◽  
Rating Scales ◽  
Rating Scale ◽  
Glutaric Aciduria Type 1 ◽  
Secondary Dystonia ◽  
Guided Surgery ◽  
Primary Dystonia ◽  
Deep Brain

Object Deep brain stimulation (DBS) is an established technique for the treatment of several movement disorders in adults. However, the technical approach, complications, and results of DBS in children have not been well documented. Methods A database of DBS implantations performed at a single institution, prospectively established in 1998, was reviewed for patients who received DBS prior to the age of 18. Diagnoses, surgical technique, and complications were noted. Outcomes were assessed using standard rating scales of neurological function. Results Of 815 patients undergoing DBS implantation over a 12-year period, 31 were children (mean age at surgery 13.2 years old, range 4–17 years old). Diagnoses included the following: DYT1 primary dystonia (autosomal dominant, Tor1AΔGAG mutation, 10 cases), non-DYT1 primary dystonia (3 cases), secondary dystonia (11 cases), neurodegeneration with brain iron accumulation (NBIA, 3 cases), levodopa-responsive parkinsonism (2 cases), Lesch-Nyhan disease (1 case), and glutaric aciduria Type 1 (1 case). Six children ages 15–17 years old underwent awake microelectrode-guided surgery. For 25 children operated under general anesthesia, the surgical technique evolved from microelectrode-guided surgery to image-guided surgeries using real-time intraoperative MR imaging or CT for lead location confirmation. Complications included 5 hardware infections, all in children younger than 10 years old. At 1 year after implantation, patients with DYT1 dystonia had a mean improvement in the Burke-Fahn-Marsden Dystonia Rating Scale movement subscore of 75%, while those with secondary dystonia had only small improvements. Outcomes in the 3 children with NBIA were disappointing. Conclusions Results of DBS in children with primary and secondary dystonias were similar to those in adults, with excellent results for DYT1 dystonia in children without fixed orthopedic deformity and much more modest results in secondary dystonia. In contrast to reported experience in adults with NBIA, these results in children with NBIA were poor. Infection risk was highest in the youngest patients.

Correlates of Deep Brain Stimulation Consensus Conference Decision to Treat Primary Dystonia

2021 ◽  
pp. 106747
Author(s):  
Lindsay Niccolai ◽  
Stephen L. Aita ◽  
Harrison C. Walker ◽  
Victor A. Del Bene ◽  
Adam Gerstenecker ◽  
...  
Keyword(s):  
Deep Brain Stimulation ◽  
Brain Stimulation ◽  
Consensus Conference ◽  
Primary Dystonia ◽  
Deep Brain

Deep brain stimulation for secondary dystonia: results in 8 patients

2009 ◽  
Vol 151 (5) ◽  
pp. 473-478 ◽  
Author(s):  
P. F. Katsakiori ◽  
Z. Kefalopoulou ◽  
E. Markaki ◽  
A. Paschali ◽  
J. Ellul ◽  
...  
Keyword(s):  
Deep Brain Stimulation ◽  
Brain Stimulation ◽  
Secondary Dystonia ◽  
Deep Brain

scholarly journals 218 Target Selection for Deep Brain Stimulation in Children with Secondary Dystonia Utilizing Temporary Depth Electrodes for Stimulation and Chronic Recording

Neurosurgery ◽  
2017 ◽  
Vol 64 (CN_suppl_1) ◽  
pp. 259-259
Author(s):  
Richard Aaron Robison ◽  
Diana Ferman ◽  
Mark A Liker ◽  
Terrence Sanger
Keyword(s):  
Deep Brain Stimulation ◽  
Beneficial Effect ◽  
Brain Stimulation ◽  
Single Unit ◽  
Response To Therapy ◽  
Rapid Improvement ◽  
Secondary Dystonia ◽  
Test Stimulation ◽  
Depth Electrodes ◽  
Deep Brain

Abstract INTRODUCTION The optimal target for deep brain stimulation (DBS) treatment in children with secondary dystonia is not known, and the target may vary depending on the etiology and anatomic distribution of injury in each child. We present a new technique for determining optimal neuro-anatomical targets in these patients. METHODS Up to ten depth electrodes are implanted in each child in multiple brain regions, including bilateral STN, GPi, and the VLa (Vo), VLp (Vim) and VPL nuclei of the thalamus. Each electrode had both high-impedance micro contacts to identify single unit firing and macro contacts for identifying local field potentials and for performing test stimulation. Children were monitored for up to one week with continuous recording from all electrodes and intermittent test stimulation at bilateral contact pairs. RESULTS >No single consistent pattern of abnormality was found. Most often, single-unit recording showed high firing rates in GPi, and dystonic movement correlated with activity VLa or VLp. The optimal stimulation target varied between children, with rapid improvement of dystonic postures during stimulation in either VLa, VLp or VPL. Stimulation of STN caused resolution of spasms during sleep in one child. Stimulation in GPi did not produce an immediate effect during the recording period, consistent with known latency of treatment effect. All of the children were implanted with up to 4 permanent stimulation leads connected to implanted pulse generators. Preliminary clinical observations show significant beneficial effect in all children. CONCLUSION This new method of DBS targeting identified targets that varied between children. Early response to therapy suggests a beneficial effect that exceeds what would be expected for GPi stimulation alone. This technique may increase the effectiveness of DBS in secondary dystonia and may allow application to a broader range of conditions in children not previously known to respond to stimulation.

Subthalamic nucleus deep brain stimulation for the treatment of secondary dystonia: A case series and review of literature

2017 ◽  
Vol 10 (4) ◽  
pp. 870-872 ◽  
Author(s):  
Jason Margolesky ◽  
Nathan Schoen ◽  
Walter Jermakowicz ◽  
Samir Sur ◽  
Iahn Cajigas ◽  
...  
Keyword(s):  
Deep Brain Stimulation ◽  
Subthalamic Nucleus ◽  
Brain Stimulation ◽  
Case Series ◽  
Review Of Literature ◽  
Secondary Dystonia ◽  
Deep Brain
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