Objective: The primary objective is to determine the efficacy of Deep Brain Stimulation (DBS) targeting the internal segment of the globus pallidus (GPi) on treating dystonia associated with Wilson’s disease (WD). The secondary objectives are to evaluate the impact of GPi DBS on the cognition aspects of the disease and to evaluate the safety of GPi DBS in the specific context of WD.

Background: WD is a rare autosomal recessive inherited disease resulting form mutations affecting the ATP7B copper transporter, leading to copper accumulation in the brain and liver. The common neurological manifestations of WD include dystonia, tremor, ataxia, chorea and parkinsonism. Of these, dystonia is one of the most difficult to manage. While GPi DBS is a therapy option to target dystonic symptoms, there is limited data on the use of this therapy to treat dystonia in WD. In order to evaluate the clinical efficacy of bilateral GPi DBS in the management of WD with dystonia, we present a case of a patient with WD who was implanted with bilateral GPi DBS and evaluated with the Unified Wilson’s Disease Rating Scale (UWDRS). The patient’s dystonia had not improved on zinc acetate treatment administered two years prior to DBS surgery.

Methods: Baseline UWDRS scores were assessed pre-operatively and 1 and 2 months post-operatively.Postsurgical UWDRS scores were compared with the baseline scores and analysis was performed on neurologic, hepatic and psychiatric subscales. In addition, he underwent an extensive neuropsychological evaluation as a part of his DBS approval process and he will be reassessed 6 months after surgery to address our secondary outcome measure of cognition.

Results: Compared to the baseline UWDRS scores, his total UWDRS scores improved by 34.48% at his 1 month postoperative evaluation and by 45.98% at his 2 month postoperative evaluation. The neurological subscore improved by 30.99% and 43.66%, respectively. In addition, the patient’s hepatic subscale improved by 37.5% and 50%, respectively. At the 1 month postoperative visit, the patient’s psychiatric subscale improved by 62.5% and remained stable at the 2 month postoperative follow-up evaluation.

Conclusions: While he did demonstrate a significant improvement in his neurological subscales, the improvement in his hepatic and psychiatric subscales likely represent variability in patient self-report more than response to DBS. In particular, his responses on the hepatic subscale likely reflect his improved overall sense of well-being rather than a specific hepatic improvement. Using bilateral GPi DBS to treat WD with prominent dystonia can be effective in ameliorating neurological and psychiatric symptoms. More clinical research should be conducted to further validate the clinical efficacy of bilateral GPi DBS in WD patient with dystonia.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/targeting-gpi-dbs-treating-dystonia-in-a-patient-with-wilsons-disease/