Deep Brain Stimulation in X-linked Dystonia-Parkinsonism (DYT3/Lubag): Partial Results from a Prospective Trial of 12 Cases (P1.013)

Abstract

Objective: To prospectively study the effect of bilateral GPi deep brain stimulation on motor symptoms in 12 cases of X-linked dystonia-parkinsonism (XDP). Background: Neurostimulation of deep brain nuclei is generally considered less effective in secondary or neurodegenerative forms of dystonia. In contrast, isolated single case reports suggest a good treatment response in XDP. Methods: Eight (of 12 planned) genetically confirmed XDP patients underwent bilateral GPi neurostimulation at the University of Lübeck, Germany. Improvement in motor symptoms was evaluated using the Burke Fahn-Marsden (BFM) Scale for dystonia and the motor component of the Unified Parkinson’s Disease Rating Scale (UPDRS Part III) for signs of parkinsonism. Patients were assessed before and immediately after surgery, and at 1, 3, and 6 months post-surgery. Results: There was an immediate improvement in motor scores in all 8 patients (mean age 42 years, mean duration of illness 4 years, all male). In 5 of 8, the score in the BFM Scale dropped by >50% immediately after surgery (range: 6-85%). At 3 months, 6 of 8 showed >65% improvement (range: 31-95%). Meanwhile, the UPDRS motor score improved by >50% in one patient immediately after surgery. In 3, the score initially worsened by 5-20%, but by 3 months post-surgery, 6 of 8 showed >50% improvement in the UPDRSIII (range: 29%-84%). The average improvement in motor score at 6 months (n=3) was 58% for the BFM Scale, and 45% for the UPDRS. Conclusions: In this first systematic, prospective DBS study, we demonstrate a clear benefit of bilateral GPi deep brain stimulation on motor symptoms of XDP. This benefit is immediate, marked, and sustained for dystonia. The immediate effect on signs of parkinsonism is less predictable, but good response is also seen at 6 months follow-up. Improvement in scores for both dystonia and parkinsonism is reflective of improved voluntary motor control in post-DBS XDP patients.

Disclosure: Dr. Domingo has nothing to disclose. Dr. Brüggemann has nothing to disclose. Dr. Jamora has nothing to disclose. Dr. Diesta has nothing to disclose. Dr. Aguilar has nothing to disclose. Dr. Zittel has nothing to disclose. Dr. Weissbach has nothing to disclose. Dr. Rasche has nothing to disclose. Dr. Münchau has nothing to disclose. Dr. Rosales has nothing to disclose. Dr. Lee has nothing to disclose. Dr. Tronnier has nothing to disclose. Dr. Klein has received personal compensation for activities with Link Medicine, and Centogene.