DEEP BRAIN STIMULATION OF THE GLOBUS PALLIDUS FOR GENERALIZED DYSTONIA IN GM1 TYPE 3 GANGLIOSIDOSIS

Neurosurgery ◽  
2006 ◽  
Vol 59 (6) ◽  
pp. E1340-E1340 ◽  
Author(s):  
Emmanuel Roze ◽  
Soledad Navarro ◽  
Philippe Cornu ◽  
Marie-Laure Welter ◽  
Marie Vidailhet
Keyword(s):  
Globus Pallidus ◽  
Specific Treatment ◽  
Double Blind ◽  
Gm1 Gangliosidosis ◽  
Functional Benefit ◽  
Pallidal Stimulation ◽  
Independent Expert ◽  
Generalized Dystonia ◽  
Type 3

Abstract OBJECTIVE GM1 Type 3 gangliosidosis is a lysosomal storage disorder for which no specific treatment is available. It is characterized by progressive generalized dystonia, which is refractory to pharmacological treatment and results in severe disability and life-threatening complications. We performed bilateral pallidal stimulation in a patient with GM1 gangliosidosis and report the 12-month postoperative course. CLINICAL PRESENTATION A 24-year old woman presented with genetically confirmed GM1 gangliosidosis, resulting in severe progressive generalized dystonia. INTERVENTION Leads were implanted bilaterally into the internal part of the globus pallidus under stereotactic guidance. At follow-up visits, both the patient and the neurologists who performed the assessment were unaware of whether the neurostimulator was on or off. The patient was videotaped with a standardized protocol and scored by an independent expert. CONCLUSION After 1 year of follow-up, double-blind comparison of the patient's status with and without neurostimulation showed a 20% improvement, with a significant functional benefit, but no change in disease progression. Although further studies are needed to evaluate this therapeutic approach, this report suggests that pallidal stimulation might be a promising treatment for dystonia caused by GM1 Type 3 gangliosidosis.

Staged implantation of multiple electrodes in the internal globus pallidus in the treatment of primary generalized dystonia

2012 ◽  
Vol 116 (5) ◽  
pp. 1144-1152 ◽  
Author(s):  
Laura Cif ◽  
Victoria Gonzalez-Martinez ◽  
Xavier Vasques ◽  
Astrid Corlobé ◽  
Ana Maria Moura ◽  
...  
Keyword(s):  
Globus Pallidus ◽  
Rating Scale ◽  
Target Selection ◽  
Safe Procedure ◽  
Internal Globus Pallidus ◽  
Residual Symptoms ◽  
Neuronal Populations ◽  
Multiple Electrodes ◽  
Generalized Dystonia

Object Deep brain stimulation (DBS) is used for treating various types of dystonia. Multiple electrodes could be proposed to improve the therapeutic outcome enabling the targeting of specific neuronal populations not reached by the electrical field generated by the initially implanted electrode. The authors address the question of the feasibility and safety of staged multiple lead implantations in the sensorimotor internal globus pallidus (GPi) in primary generalized dystonia (PGD). Criteria for patient selection, surgical technique, target selection, electrical settings management, and clinical outcome are presented. Methods Sixteen patients (8 harbored the DYT1 gene mutation) presented with PGD and were enrolled in this study. Patients underwent clinical assessment using the Burke-Fahn-Marsden Dystonia Rating Scale preoperatively and during follow-up with DBS. Prior to the addition of electrodes, the authors confirmed, by turning off stimulation, that the patient was still benefiting from DBS and that DBS settings adjustment did not provide further improvement. The second target was defined according to the position of the first electrode, to the residual volume within the sensorimotor GPi, and according to residual symptoms. The second surgery followed the same protocol as the first and the new electrode were inserted using the same bur hole as the first electrode. Results The addition of a new pair of electrodes was followed by significant improvement in the whole population (p = 0.005), as well as in the DYT1-negative subgroup (p = 0.012) but not in the DYT1 subgroup (p = not significant). Nevertheless, some patients did not exhibit significant additional benefit. Seven hardware-related complications occurred during the entire follow-up, 3 prior to it, and 4 after the addition of the second pair of electrodes. Conclusions The addition of a second pair of electrodes in the GPi in patients with PGD with suboptimal or decaying benefit following the first surgery seems to be a safe procedure and is not followed by an increase in surgery-related complications. This staged procedure may provide further clinical improvement in patients with PGD in whom DBS effect is initially incomplete or when disease progression occurs over time. The position of the additional electrode within the GPi is determined by the available volume within the posteroventral GPi and by the distribution of the dystonic symptoms that need to be controlled.

Two cases of autosomal recessive generalized dystonia in childhood: 5 year follow-up and bilateral globus pallidus stimulation results

2006 ◽  
Vol 10 (1) ◽  
pp. 5-9 ◽  
Author(s):  
Mathieu W. Lenders ◽  
Mervyn D. Vergouwen ◽  
Gerard Hageman ◽  
Joffrey A. van der Hoek ◽  
Elly F. Ippel ◽  
...  
Keyword(s):  
Globus Pallidus ◽  
Autosomal Recessive ◽  
Generalized Dystonia

Electrical stimulation of the globus pallidus internus in patients with primary generalized dystonia: long-term results

2004 ◽  
Vol 101 (2) ◽  
pp. 189-194 ◽  
Author(s):  
Philippe Coubes ◽  
Laura Cif ◽  
Hassan El Fertit ◽  
Simone Hemm ◽  
Nathalie Vayssiere ◽  
...  
Keyword(s):  
Electrical Stimulation ◽  
Globus Pallidus ◽  
Globus Pallidus Internus ◽  
Long Term Results ◽  
Content Type ◽  
Generalized Dystonia ◽  
Fine Print ◽  
Stimulation Of

Object. Primary generalized dystonia (PGD) is a medically refractory disease of the brain causing twisting or spasmodic movements and abnormal postures. In more than 30% of cases it is associated with the autosomal DYT1 mutation. Continuous electrical stimulation of the globus pallidus internus (GPi) has been used successfully in the treatment of PGD. The aim of this study was to examine the long-term efficacy and safety of deep brain stimulation (DBS) in the treatment of PGD in children and adults with and without the DYT1 mutation. Methods. Thirty-one patients with PGD were selected for surgery. Electrodes were bilaterally implanted under stereotactic guidance and connected to neurostimulators that were inserted subcutaneously. Efficacy was evaluated by comparing scores on the clinical and functional Burke-Fahn-Marsden Dystonia Rating Scale (BFMDRS) before and after implantation. The efficacy of stimulation improved with time. After 2 years, compared with preoperative values, the mean (± standard deviation) clinical and functional BFMDRS scores had improved by 79 ± 19% and 65 ± 33%, respectively. At the 2-year follow-up examination the improvement was comparable in patients with and without the DYT1 mutation in both the functional (p = 0.12) and clinical (p = 0.33) scores. Children displayed greater improvements in the clinical score than adult patients (p = 0.04) at 2 years of follow up. In contrast, there was no significant difference in functional scores between children and adults (p = 0.95). Conclusions. Electrical stimulation of the GPi is an effective, reversible, and adaptable treatment for PGD and should be considered for conditions refractory to pharmaceutical therapies.

Disease Stabilization of DYT1-Positive Primary Generalized Dystonia With Deep Brain Stimulation of the Globus Pallidus Interna: A 15-Year Follow-up

2017 ◽  
Vol 14 (5) ◽  
pp. E53-E57 ◽  
Author(s):  
Derrick A Dupre ◽  
Raj Nangunoori ◽  
Sravanthi Koduri ◽  
Cindy Angle ◽  
Diane Cantella ◽  
...  
Keyword(s):  
Deep Brain Stimulation ◽  
Globus Pallidus ◽  
Brain Stimulation ◽  
Disease Stabilization ◽  
Long Term Follow Up ◽  
Generalized Dystonia ◽  
The Right ◽  
Deep Brain

Abstract BACKGROUND AND IMPORTANCE Primary generalized dystonia (PGD) is a genetic form of dystonia that frequently displays pharmacological resistance and progresses quickly after onset. Deep brain stimulation (DBS) has been used successfully to treat refractory dystonia, specifically globus pallidus interna (GPi) DBS for DYT1-positive PGD patients. Long-term follow-up of the safety and efficacy falls short of the longevity seen in other diseases treated with DBS. CASE PRESENTATION A male patient presented for neurosurgical evaluation with scapular winging, hand contractures, and violent truncal spasms, which forced him to be bedridden. After failing conservative therapy, the 18-yr-old patient was implanted with bilateral GPi-DBS. DBS parameter adjustments were made primarily within the first 3 yr after implantation, with nominal changes thereafter. Initial settings were contact of 3 + 0−, amplitude of 4.9 V, frequency of 185 Hz, and pulse width of 270 μsec on the left and 3 + 0−, 2.8 V, 185 Hz, and 120 μsec on the right. Current settings are 3 + 2 + 1−, 5.2 V, 130 Hz, 330 μsec on the left and 3 + 0−, 3.5 V, 185 Hz, and 180 μsec on the right and have been relatively unchanged in the past 4 yr. Unified dystonia rating scale scores reveal a significant decrease in dystonic symptoms. CONCLUSION While prior reports have shown that GPi-DBS is effective for dystonia, this is the first with 15 yr of long-term follow-up showing disease stabilization, suggesting that stimulation is efficacious and can potentially prevent disease progression. This report reaffirms previous reports that recommend early surgical intervention before the onset of permanent musculoskeletal deficits.

scholarly journals Successful Pallidal Deep Brain Stimulation Treatment in a Case of Generalized Dystonia due to a Novel ANO3 Mutation

2019 ◽  
Vol 2019 ◽  
pp. 1-2 ◽  
Author(s):  
Lizl Lasky ◽  
Lindsay Bliss ◽  
Christos Sidiropoulos
Keyword(s):  
Deep Brain Stimulation ◽  
Brain Stimulation ◽  
Case Series ◽  
Long Term Outcomes ◽  
Pallidal Stimulation ◽  
Generalized Dystonia ◽  
Pallidal Deep Brain Stimulation ◽  
Deep Brain

Background. Dystonia is a ubiquitous syndrome, with a growing number of genes being continually identified. Mutations in the anoctamin-3 gene have been described to cause dystonia but the management and long-term outcomes are still largely unknown. Methods. We present here a long term, longitudinal follow up of a patient with generalized dystonia, who was treated with bilateral pallidal deep brain stimulation and was found to harbor a mutation in the anoctamin-3 gene. Results. Ongoing adjustment of stimulation settings and medications led to good and sustained dystonia control; however the patient did suffer short term relapses, manifested as dystonic crisis, which necessitated inpatient admission. Conclusion. This only the second patient to be reported with pallidal stimulation and an anoctamin-3 gene mutation. Long term outcomes seem to be favorable but larger case series are needed to confirm our findings.

Pallidal Stimulation for Dystonia

Neurosurgery ◽  
2004 ◽  
Vol 55 (6) ◽  
pp. 1361-1370 ◽  
Author(s):  
Martin Krause ◽  
Wolfgang Fogel ◽  
Manja Kloss ◽  
Dirk Rasche ◽  
Jens Volkmann ◽  
...  
Keyword(s):  
Deep Brain Stimulation ◽  
Treatment Option ◽  
High Frequency ◽  
Dystonic Tremor ◽  
Tardive Dystonia ◽  
Pallidal Stimulation ◽  
Generalized Dystonia ◽  
Promising Treatment ◽  
Deep Brain

Abstract OBJECTIVE: High-frequency deep brain stimulation (DBS) of the globus pallidus internus (GPi) is a new and promising treatment option for severe dystonia. Yet only few studies have been published to date regarding this treatment. We present the results of DBS of the GPi in 17 patients with severe dystonia of different causes. METHODS: In our study, we included 10 patients with primary generalized dystonia, six patients with secondary generalized dystonia, and one patient with a severe dystonic cervical tremor. In all patients, DBS electrodes were implanted bilaterally within the GPi. Mean follow-up time was 36 months (range, 12–66 mo). Preoperative and postoperative evaluations (at least annually) were performed using the Burk-Fahn-Marsden scale. RESULTS: The best improvement was achieved in patients with DYT1-positive dystonia. Patients with DYT1-negative generalized dystonia showed inhomogeneous results. There was no significant change in patients with tardive dystonia. One case of Hallervorden-Spatz disease improved dramatically within the first 2 years. The improvement in the cervical dystonic tremor was disappointing, however. Three years after DBS implantation, we found a secondary worsening of symptoms in one patient with a DYT1-positive dystonia and in the patient with Hallervorden-Spatz disease. CONCLUSION: DBS of the GPi is a new and promising treatment option for dystonia. Secondary worsening may limit this therapy.

Stimulation of the globus pallidus internus in a patient with DYT1-positive primary generalized dystonia: a 10-year follow-up

2010 ◽  
Vol 29 (2) ◽  
pp. E16 ◽  
Author(s):  
Dunbar Alcindor ◽  
Michael Y. Oh ◽  
Susan Baser ◽  
Cindy Angle ◽  
Boyle C. Cheng ◽  
...  
Keyword(s):  
Deep Brain Stimulation ◽  
Globus Pallidus ◽  
Brain Stimulation ◽  
Surgical Intervention ◽  
Efficacy And Safety ◽  
Generalized Dystonia ◽  
Early Surgical Intervention ◽  
Deep Brain ◽  
Stimulation Of

The authors report the case of DYT1-positive primary generalized dystonia refractory to medical management that was successfully treated with continuous deep brain stimulation of the internal segment of the globus pallidus. Prior studies have shown that neuromusculoskeletal deficits can remain permanent if early surgical intervention is not undertaken. The authors report prolonged efficacy and safety over a 10-year period in a 28-year-old man.

Pallidal stimulation for generalized dystonia

2000 ◽  
Vol 92 (3) ◽  
pp. 453-456 ◽  
Author(s):  
Volker M. Tronnier ◽  
Wolfgang Fogel
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Stereotactic Surgery ◽  
Treatment Alternative ◽  
Content Type ◽  
Pallidal Stimulation ◽  
Generalized Dystonia ◽  
Fine Print

✓ Pallidal stereotactic surgery is a well-accepted treatment alternative for Parkinson's disease. Another indication for this procedure is medically refractory dystonia, especially generalized dystonia with abnormal axial and extremity movements and postures. Improvement of dystonia after pallidotomy has been reported in several recent papers. In this report the authors describe three patients with generalized dystonia (two primary, one secondary) and their improvement after bilateral pallidal stimulation at follow-up times of between 6 and 18 months.

Chronic stimulation of the globus pallidus internus for treatment of non-DYT1 generalized dystonia and choreoathetosis: 2-year follow up

2003 ◽  
Vol 98 (4) ◽  
pp. 785-792 ◽  
Author(s):  
Joachim K. Krauss ◽  
Thomas J. Loher ◽  
Ralf Weigel ◽  
H. Holger Capelle ◽  
Sabine Weber ◽  
...  
Keyword(s):  
Globus Pallidus ◽  
Rating Scale ◽  
Globus Pallidus Internus ◽  
Content Type ◽  
Pain Scores ◽  
Age At Surgery ◽  
Generalized Dystonia ◽  
A Minor ◽  
Fine Print

Object. The authors studied the long-term efficacy of deep brain stimulation (DBS) of the posteroventral lateral globus pallidus internus up to 2 years postoperatively in patients with primary non-DYT1 generalized dystonia or choreoathetosis. The results are briefly compared with those reported for DBS in DYT1 dystonia (Oppenheim dystonia), which is caused by the DYT1 gene. Methods. Enrollment in this prospective expanded pilot study was limited to adult patients with severely disabling, medically refractory non-DYT1 generalized dystonia or choreoathetosis. Six consecutive patients underwent follow-up examinations at defined intervals of 3 months, 1 year, and 2 years postsurgery. There were five women and one man, and their mean age at surgery was 45.5 years. Formal assessments included both the Burke-Fahn-Marsden dystonia scale and the recently developed Unified Dystonia Rating Scale. Two patients had primary generalized non-DYT1 dystonia, and four suffered from choreoathetosis secondary to infantile cerebral palsy. Bilateral quadripolar DBS electrodes were implanted in all instances, except in one patient with markedly asymmetrical symptoms. There were no adverse events related to surgery. The Burke-Fahn-Marsden scores in the two patients with generalized dystonia improved by 78 and 71% at 3 months, by 82 and 69% at 1 year, and by 78 and 70% at 2 years postoperatively. This was paralleled by marked amelioration of disability scores. The mean improvement in Burke-Fahn-Marsden scores in patients with choreoathetosis was 12% at 3 months, 29% at 1 year, and 23% at 2 years postoperatively, which was not significant. Two of these patients thought that they had achieved marked improvement at 2 years postoperatively, although results of objective evaluations were less impressive. In these two patients there was a minor but stable improvement in disability scores. All patients had an improvement in pain scores at the 2-year follow-up review. Medication was tapered off in both patients with generalized dystonia and reduced in two of the patients with choreoathetosis. All stimulation-induced side effects were reversible on adjustment of the DBS settings. Energy consumption of the batteries was considerably higher than in patients with Parkinson disease. Conclusions. Chronic pallidal DBS is a safe and effective procedure in generalized non-DYT1 dystonia, and it may become the procedure of choice in patients with medically refractory dystonia. Postoperative improvement of choreoathetosis is more modest and varied, and subjective ratings of outcome may exceed objective evaluations.

Severity and DYT1 status predict outcome after chronic bilateral pallidal stimulation in children and adolescents with primary generalized dystonia

2008 ◽  
Vol 39 (05) ◽  
Author(s):  
I Borggraefe ◽  
JH Mehrkens ◽  
M Telegravciska ◽  
S Berweck ◽  
K Bötzel ◽  
...  
Keyword(s):  
Children And Adolescents ◽  
Pallidal Stimulation ◽  
Generalized Dystonia
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