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

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.

Download Full-text

Lateralized effect of pallidal stimulation on self-mutilation in Lesch-Nyhan disease

Journal of Neurosurgery Pediatrics ◽

10.3171/2014.8.peds1451 ◽

2014 ◽

Vol 14 (6) ◽

pp. 594-597 ◽

Cited By ~ 13

Author(s):

Taylor J. Abel ◽

Brian D. Dalm ◽

Andrew J. Grossbach ◽

Adam W. Jackson ◽

Teri Thomsen ◽

...

Keyword(s):

Cognitive Impairment ◽

Deep Brain Stimulation ◽

Brain Stimulation ◽

The Self ◽

Lead Fracture ◽

Self Mutilation ◽

Pallidal Stimulation ◽

Generalized Dystonia ◽

Hypoxanthine Guanine Phosphoribosyltransferase ◽

Deep Brain

Lesch-Nyhan disease (LND) is an X-linked hereditary disorder caused by a deficiency of hypoxanthine-guanine phosphoribosyltransferase. This syndrome is characterized by hyperuricemia, self-mutilation, cognitive impairment, and movement disorders such as spasticity and dystonia. The authors describe the case of a 15-year-old boy who underwent bilateral placement of globus pallidus internus (GPi) deep brain stimulation (DBS) electrodes for the treatment of generalized dystonia. His self-mutilating behavior gradually disappeared several weeks after the start of GPi stimulation. The dystonia and self-mutilating behavior returned on the left side only after a right lead fracture. This case is the first reported instance of LND treated with DBS in which the stimulation was interrupted and the self-mutilation returned in a lateralized fashion. The findings indicate that the neurobehavioral aspect of LND is lateralized and that contralateral GPi stimulation is responsible for lateralized improvement in self-injurious behavior.

Download Full-text

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

Case Reports in Neurological Medicine ◽

10.1155/2019/3154653 ◽

2019 ◽

Vol 2019 ◽

pp. 1-2 ◽

Cited By ~ 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.

Download Full-text

Impact of bilateral pallidal stimulation on DYT1-generalized dystonia in Japanese patients

Movement Disorders ◽

10.1002/mds.21021 ◽

2006 ◽

Vol 21 (10) ◽

pp. 1785-1787 ◽

Cited By ~ 17

Author(s):

Satoshi Goto ◽

Kazumichi Yamada ◽

Hideki Shimazu ◽

Nagako Murase ◽

Kazuhito Matsuzaki ◽

...

Keyword(s):

Japanese Patients ◽

Pallidal Stimulation ◽

Generalized Dystonia

Download Full-text

Pallidal Stimulation for Dystonia

Neurosurgery ◽

10.1227/01.neu.0000143331.86101.5e ◽

2004 ◽

Vol 55 (6) ◽

pp. 1361-1370 ◽

Cited By ~ 129

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.

Download Full-text

Pallidal deep brain stimulation for longstanding severe generalized dystonia in Hallervorden—Spatz syndrome

Journal of Neurosurgery ◽

10.3171/jns.2004.100.4.0706 ◽

2004 ◽

Vol 100 (4) ◽

pp. 706-709 ◽

Cited By ~ 52

Author(s):

Atsushi Umemura ◽

Jurg L. Jaggi ◽

Carol A. Dolinskas ◽

Matthew B. Stern ◽

Gordon H. Baltuch

Keyword(s):

Deep Brain Stimulation ◽

Brain Stimulation ◽

Rating Scale ◽

Motor Functioning ◽

Content Type ◽

Pallidal Stimulation ◽

Upper And Lower Extremities ◽

Generalized Dystonia ◽

Fine Print ◽

Deep Brain

✓ Generalized dystonia is one of the most disabling movement disorders. Ablative stereotactic surgery such as pallidotomy has been performed for medically refractory dystonia. Recently, deep brain stimulation (DBS) has appeared as an alternative to ablative procedures. Nevertheless, there have been few published reports detailing improvement in dystonia with DBS. This 36-year-old man with Hallervorden—Spatz syndrome suffered from intractable primary generalized dystonia for 28 years. He was completely dependent for activities of daily living and wheelchair bound because of continuous severe dystonic movements in the face, tongue, neck, trunk, and upper and lower extremities while at rest. The Burke-Fahn-Marsden (BFM) Dystonia Rating Scale score was 112 (maximum 120 points). Bilateral DBS of the globus pallidus internus was performed and resulted in marked improvement in motor functioning and dystonic symptoms with a significant reduction in disability. The BFM score improved to 22.5 points (80% improvement) at 3 months postsurgery and the patient's dystonia was still well suppressed 1 year after surgery. Bilateral pallidal stimulation is an effective and safe treatment for intractable generalized dystonia in Hallervorden—Spatz syndrome, even if the disability is severe and longstanding.

Download Full-text

Use of surface electromyography to assess and select patients with idiopathic dystonia for bilateral pallidal stimulation

Journal of Neurosurgery ◽

10.3171/jns.2006.105.1.21 ◽

2006 ◽

Vol 105 (1) ◽

pp. 21-25 ◽

Cited By ~ 21

Author(s):

Shouyan Wang ◽

Xuguang Liu ◽

John Yianni ◽

Alex L. Green ◽

Carole Joint ◽

...

Keyword(s):

Clinical Outcome ◽

Surface Electromyography ◽

Surface Emg ◽

Spasmodic Torticollis ◽

Rapid Improvement ◽

Physiological Index ◽

Pallidal Stimulation ◽

Generalized Dystonia ◽

Muscle Groups ◽

Idiopathic Dystonia

Object The object of this study was to identify a preoperative physiological index by using surface electromyography (EMG) signals that would correlate with clinical outcome in dystonic patients following bilateral pallidal stimulation. Methods In 14 patients with spasmodic torticollis, generalized dystonia, and myoclonic dystonia, surface EMG signals were recorded from the most affected muscle groups. Although the dystonia affected different body segments, the EMG signals in all patients could be decomposed into bursting and sustained components. Subsequently, a ratio of the EMG amplitude was calculated between the two components and then correlated with clinical outcome. Patients who experienced rapid improvement following bilateral pallidal stimulation had a significantly higher EMG ratio compared with those who did not. Furthermore, a significant correlation was found between the EMG ratio and clinical improvement during the 12-month period following pallidal stimulation. Conclusions The authors concluded that surface EMG studies could be used to predict the clinical outcome of and to select patients for pallidal stimulation for dystonia.

Download Full-text

Pallidal stimulation for generalized dystonia

Journal of Neurosurgery ◽

10.3171/jns.2000.92.3.0453 ◽

2000 ◽

Vol 92 (3) ◽

pp. 453-456 ◽

Cited By ~ 121

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.

Download Full-text