Objective: The authors present a group of patients with diagnosed NBIA- related general dystonia (PANK2 mutation), treated with deep brain stimulation (DBS).

Background: Lack of efficacy of medical treatment for dystonia related to Neurodegeneration with Brain Iron Accumulation (NBIA) should lead to more invasive treatment.

Method: 22 patients with confirmed PANK2 mutation (NBIA-PKAN) were treated with DBS between 2008 and 2024. Age of the patients varied from 8 to 35 years. The clinical condition of the patients was evaluated with scales and video recorded. In all cases the permanent electrodes were implanted in the subthalamic nuclei or globus pallidus pars interna. The surgical procedure was undertaken under general anaesthesia. The target was identified with the direct and indirect methods. Intrasurgical macrostimulation and microrecording were used for neurophysiological evaluation of the target. Postsurgical local field potentials were recorded in all cases.

Results: Neither neurological deterioration nor surgical complication related to the surgery were reported. Caregivers of the patients noted subjective improvement of the clinical state of the subjects that was confirmed with scales. More significant improvement was noted among STN group compared to GPi group.

Conclusion: Subthalamic or pallidal deep brain stimulation reduces dystonic movements among NBIA patients. The technique carries minor surgical risk.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/gpi-and-stn-dbs-for-nbia-related-dystonia/