Objective: To assess the efficacy of the deep brain stimulation (DBS) on dystonia in Wilson’s disease (WD).

Background: The persistence of disabling dystonia despite medical treatments is frequent in WD. Some case reports argue for an efficacy of DBS on this symptom (1–3).

Method: A meta-analysis of Nof1 trial took place at two reference centers for WD in France. Key inclusion criteria were patients with WD and an optimized medical treatment stabilized for at least 6 months, and an important disability due to abnormal movement (Rankin>=2). For bradykinetic patients, subthalamic nucleus (STN) was considered as the target of DBS and for patients with hyperkinetic dystonia, the internal globus pallidus (GPi) was chosen. Each patient underwent 4 periods of 4 months of DBS “on” or “off”. The order of the periods was randomly assigned. Patients were unaware of the stimulation condition and were evaluated before and after each period by a blinded neurologist. The carry-over effect was considered through the one month-wash-out period between each period. The adjustments of parameters were performed by another neurologist (unblinded). The primary outcome was the change in the Canadian Occupational performance Measure (COPM) score after each 4 months-period using blinded evaluations. Reduction of the Burke-Fahn-Marsden (BFM) dystonia scale score at each period was one of the secondary outcomes. The study is registered with clinicaltrials.gov, NCT: 02552628

Results: Between May the 12^th 2016 and October the 7^th 2022, three WD patients with generalized dystonia were included. Two received GPi-DBS because of mobile dystonia and one STN-DBS because of predominant bradykinesia associated with dystonia. The primary outcome was negative without any significant changes in COPM. The effect of the “on” randomization didn’t have an impact on the BFM scores. No severe adverse effect was notice.

Conclusion: This Meta-analysis of three cases trial provides evidence of the inefficacy of STN/GPi DBS in WD for dystonia. This is the first trial design to assess the efficacy of the DBS on dystonia in WD.

References: 1. Sidiropoulos C, Hutchison W, Mestre T, Moro E, Prescott IA, Mizrachi AV, et al. Bilateral pallidal stimulation for Wilson’s disease. Mov Disord. 2013 Aug;28(9):1292–5.
2. As S. Electrical stimulation of the brain in Wilson-Konovalov hepatocerebral dystrophy (a neuromorphological and neurophysiological analysis). Neuroscience and behavioral physiology [Internet]. 2002 Jun
3. Dhar D, Holla VV, Kamble N, Yadav R, Srinivas D, Pal PK. Surgical Outcomes in Rare Movement Disorders: A Report of Seventeen Patients from India and Review of Literature. Tremor Other Hyperkinet Mov (N Y). 2022;12:22.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/deep-brain-stimulation-for-severe-dystonia-associated-with-wilsons-disease-a-prospective-multicentre-meta-analysis-of-nof1-trials/