Objective: The aim of this study was a comparative analysis of the neuronal activity of globus pallidus in patients with DYT1 dystonia and idiopathic dystonia.

Background: Dystonia is a motor disorder characterized by involuntary muscle contractions leading to a pathological posture, and often accompanied by dystonic tremor. The pathophysiological mechanisms leading to such symptoms remain unknown. Some patients with dystonia have a mutation in the DYT1 gene. The DYT1 mutation leads to dysfunction of the torsin A protein, resulting in increased activation of striatum neurons that suppress the globus pallidus.

Method: The data were obtained during stereotactic implantation of electrodes for deep brain stimulation (DBS). During the operations we performed microelectrode recording of the single unit activity in the external and internal segments of a globus pallidus in 5 patients with DYT1 and in 5 patients without DYT1. We performed offline analysis of firing and pattern parameters as well as the oscillation scores of single units.

Results: In total, the activity of 662 neurons were analyzed. We found a significantly reduced firing rate, burst index and burst rate in both segments of the globus pallidus in DYT1 patients. On the other hand, we found significantly increased interburst interval, preburst interval, pause index, oscillation scores in gamma and high gamma bands.

Conclusion: Obtained results indicate that neurons in DYT1 patients in both GPi and GPe characterize by lower firing rate and pause pattern. The similarity of changes in neural activity in GPe and GPi indicates a common pathological focus for these structures, which may be located in the striatum. We assume that the DYT1 mutation influence on the electrophysiological parameters of pallidal neural activity.
The study was funded by the Russian Science Foundation project 18–15-00009 for electrophysiological data collection and analysis and by The Russian Foundation for Basic Research project 20–015-00438 for analysis of clinical data.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/specificity-of-neuronal-activity-in-globus-pallidus-in-patients-with-dyt1-dystonia/