Objective: Deep Brain Stimulation (DBS) is an established treatment for various movement disorders, including primary dystonia. The effect in secondary dystonia is less well studied. Louis-Bar syndrome or Ataxia teleangiectasia (AT) is a rare autosomal recessive neurodegenerative disorder caused by mutations in the ATM- Gene. It is characterized by cerebellar ataxia, immunodeficiency, ocular teleangiectasias and an increased risk of malignant tumours.

Background: Secondary dystonia is a movement disorder that arises as a consequence of an underlying disease or damage to the central nervous system. In the context of AT dystonia can develop due to dysfunction oft he basal ganglia or cerebellar networks.

Method: We present 2 patients suffering from secondary dystonia related to AT. A 20 years old male and a 44 years old male patient. Under general anesthesia segmented leads were implanted in the GPi in a stereotactic procedure using microelectrode recording and test stimulation. The electrodes were connected to a rechargeable IPG. Pre- and postoperative neurological findings and follow up were evaluated (Video/BFMDRS). Surgery with targeting based on a stereotactic intraoperative MRI are described. Because of the increased risk of malignant tumor development, intraoperative X-ray exposure was minimized and postoperative lead localization was detected by a low-dose CT scan. Due to the known immune system impairment caused by a T-cell defect, a postoperative antibiotic therapy was administered for 10 days.

Results: The diagnosis of AT was proven by molecular genetic examination. The motor symptoms in both patients improved postoperatively. Both patients showed a microlesioning effect. The postoperative CT-scans showed regular findings with correct lead positioning. Follow up was 96 months and 13 months.

Conclusion: Pallidal DBS is a potential herapeutic approach for secondory dystonia, including rare genetic syndromes like AT. While some patients may show symptom relief and improved quality of life, the long term outcomes and generalizable efficacy remain uncertain. Future studies should focus on larger patient cohorts, optimized stimulation protocols, and the identification of predictive factors to improve treatment in this challeging patient population.

References: Collyer J, Rajan DS. Ataxia teleangiectasia. Semin Pediatr Neurol. 2024.Dec; 52:101169. doi: 10.1016/j.spen.2024.101169

Amirifar P, Ranjouri MR, Lavin M, Abolhassani H, Yazdani R, Aghamohammadi A. Ataxia-telangiectasia: epidemiology, pathogenesis, clinical phenotype, diagnosis, prognosis and management. Expert Rev Clin Immunol. 2020 Sep; 16(9):859-871. doi: 10.1080/1744666X2020.1810570

« Back to 2025 International Congress

MDS Abstracts - https://www.mdsabstracts.org/abstract/bilateral-pallidal-deep-brain-stimulation-in-secondary-dystonia-in-louis-bar-syndrome-patients-a-report-of-two-cases/