Deep brain stimulation of the globus pallidus for generalized dystonia in GM1 Type 3 gangliosidosis: technical case report.

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.

• Authors: Emmanuel Roze, Soledad Navarro, Philippe Cornu, Marie-Laure Welter, Marie Vidailhet
• Journal: Neurosurgery (Neurosurgery) Vol. 59 Issue 6 Pg. E1340; discussion E1340 (Dec 2006) ISSN: 1524-4040 [Electronic] United States
• PMID: 17277672 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't, Technical Report)

Topics

• Adult
• Deep Brain Stimulation (methods)
• Dystonia (etiology, therapy)
• Female
• Gangliosidosis, GM1 (complications, therapy)
• Globus Pallidus
• Humans
• Treatment Outcome