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

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

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

Faculty Opinions recommendation of Factors predicting improvement in primary generalized dystonia treated by pallidal deep brain stimulation.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.1164760.626576 ◽

2009 ◽

Author(s):

Daniel Tarsy

Keyword(s):

Deep Brain Stimulation ◽

Brain Stimulation ◽

Generalized Dystonia ◽

Pallidal Deep Brain Stimulation ◽

Deep Brain

Download Full-text

Subthalamic nucleus deep brain stimulation after bilateral pallidotomy in the treatment of generalized dystonia

Parkinsonism & Related Disorders ◽

10.1016/j.parkreldis.2013.09.015 ◽

2014 ◽

Vol 20 (1) ◽

pp. 131-133 ◽

Cited By ~ 6

Author(s):

Malgorzata Dec ◽

Marcin Tutaj ◽

Monika Rudzińska ◽

Andrzej Szczudlik ◽

Henryk Koziara ◽

...

Keyword(s):

Deep Brain Stimulation ◽

Subthalamic Nucleus ◽

Brain Stimulation ◽

Generalized Dystonia ◽

Deep Brain

Download Full-text

Deep brain stimulation treatment in dystonia: a bibliometric analysis

Arquivos de Neuro-Psiquiatria ◽

10.1590/0004-282x20200016 ◽

2020 ◽

Vol 78 (9) ◽

pp. 586-592

Author(s):

Clarice LISTIK ◽

Eduardo LISTIK ◽

Rubens Gisbert CURY ◽

Egberto Reis BARBOSA ◽

Manoel Jacobsen TEIXEIRA ◽

...

Keyword(s):

Deep Brain Stimulation ◽

Bibliometric Analysis ◽

Brain Stimulation ◽

The United States ◽

Scientific Journals ◽

Long Term Outcomes ◽

Generalized Dystonia ◽

Research Domain ◽

Deep Brain

ABSTRACT Background: Dystonia is a heterogeneous disorder that, when refractory to medical treatment, may have a favorable response to deep brain stimulation (DBS). A practical way to have an overview of a research domain is through a bibliometric analysis, as it makes it more accessible for researchers and others outside the field to have an idea of its directions and needs. Objective: To analyze the 100 most cited articles in the use of DBS for dystonia treatment in the last 30 years. Methods: The research protocol was performed in June 2019 in Elsevier’s Scopus database, by retrieving the most cited articles regarding DBS in dystonia. We analyzed authors, year of publication, country, affiliation, and targets of DBS. Results: Articles are mainly published in Movement Disorders (19%), Journal of Neurosurgery (9%), and Neurology (9%). European countries offer significant contributions (57% of our sample). France (192.5 citations/paper) and Germany (144.1 citations/paper) have the highest citation rates of all countries. The United States contributes with 31% of the articles, with 129.8 citations/paper. The publications are focused on General outcomes (46%), followed by Long-term outcomes (12.5%), and Complications (11%), and the leading type of dystonia researched is idiopathic or inherited, isolated, segmental or generalized dystonia, with 27% of articles and 204.3 citations/paper. Conclusions: DBS in dystonia research is mainly published in a handful of scientific journals and focused on the outcomes of the surgery in idiopathic or inherited, isolated, segmental or generalized dystonia, and with globus pallidus internus as the main DBS target.

Download Full-text

The minimal clinically important change in the motor section of the Burke-Fahn-Marsden Dystonia Rating Scale for generalized dystonia: Results from deep brain stimulation

Parkinsonism & Related Disorders ◽

10.1016/j.parkreldis.2021.11.016 ◽

2021 ◽

Author(s):

Esther Cubo Delgado ◽

Joan Miravite ◽

Sara Calvo ◽

Kathryn Cooper ◽

Deborah Raymond ◽

...

Keyword(s):

Deep Brain Stimulation ◽

Brain Stimulation ◽

Rating Scale ◽

Important Change ◽

Generalized Dystonia ◽

Clinically Important Change ◽

Deep Brain

Download Full-text

Freezing of Gait After Bilateral Globus Pallidus Interna Deep Brain Stimulation in Generalized Dystonia

Deep Brain Stimulation ◽

10.1093/med/9780190647209.003.0021 ◽

2020 ◽

pp. 105-108

Author(s):

Mariana Moscovich

Keyword(s):

Deep Brain Stimulation ◽

Globus Pallidus ◽

Brain Stimulation ◽

Freezing Of Gait ◽

Left Handed ◽

Old Left ◽

Generalized Dystonia ◽

Walking Difficulty ◽

Deep Brain

Deep brain stimulation (DBS) of the globus pallidus internus (GPi) is a safe and long-term effective treatment for medication-refractory dystonia. However, complications and side effects may occur. Freezing of gait (FOG) is a rare phenomenon in patients with dystonia, although very frequently this complication is observed in patients with Parkinson disease (PD). FOG can be disabling and may severely impair quality of life, even when episodic. This chapter reports on a case of a 49-year-old left-handed man presenting with FOG, impairment in balance, and walking difficulty. These issues emerged 3 years after successful bilateral GPi DBS for primary generalized dystonia.

Download Full-text

Unilateral thalamic and pallidal deep brain stimulation for idiopathic hemidystonia: results of individual and combined stimulations. Case report

Neurosurgical FOCUS ◽

10.3171/2017.4.focus17134 ◽

2017 ◽

Vol 43 (1) ◽

pp. E2 ◽

Cited By ~ 1

Author(s):

Victor Goulenko ◽

Paulo Luiz da Costa Cruz ◽

Paulo Niemeyer Filho

Keyword(s):

Deep Brain Stimulation ◽

Brain Stimulation ◽

Rating Scale ◽

Multiple Target ◽

Motor Pathways ◽

Severity Rating ◽

Pallidal Stimulation ◽

Pallidal Deep Brain Stimulation ◽

Deep Brain

Pallidal stimulation has been the usual surgical treatment for dystonia in the last decades. The continuous investigation of the physiopathology and the motor pathways involved leads to the search for complementary targets to improve results. The authors present the case of a 37-year-old woman who had suffered from idiopathic hemidystonia with hyperkinetic and hypokinetic movements for 11 years, and who was treated with deep brain stimulation. A brief literature review is also provided. The globus pallidus internus and the ventral intermediate/ventral oral posterior complex of the thalamus were stimulated separately and simultaneously for 3 months and compared using the Burke-Fahn-Marsden Dystonia Rating Scale and the Global Dystonia Severity Rating Scale, with a 3.5-year follow-up. The synergism of multiple-target stimulation resulted in a complete improvement of the mixed dystonic symptoms.

Download Full-text