Background Elevated low-frequency activity (4–12 Hz) within the globus pallidus internus (GPi) has been consistently associated with dystonia. However, the impacts of the genetic etiology of dystonia on low-frequency GPi activity remain unclear; yet it holds importance for adaptive deep brain stimulation (DBS) treatment. Methods We compared the properties of GPi electrophysiology acquired from 70 microelectrode recordings (MER) trajectories of DYT-GNAL, DYT-KMT2B, DYT-SGCE, DYT-THAP1, DYT-TOR1A, DYT-VPS16, and idiopathic dystonia (iDYT) patients who underwent GPi-DBS surgery across standard frequency bands. Results DYT-SGCE patients exhibited significantly lower alpha band activity (2.97%) compared to iDYT (4.44%, p = 0.006) and DYT-THAP1 (4.51%, p = 0.011). Additionally, theta band power was also significantly reduced in DYT-SGCE (4.42%) compared to iDYT and DYT-THAP1 (7.91% and 7.00%, p < 0.05). Instead, the genetic etiology of dystonia did not affect the spatial characteristics of GPi electrophysiology along MER trajectories. Conclusion Considering the genetic etiology of dystonia in closed-loop DBS treatments and utilizing theta and alpha activity for GPi stimulation may optimize clinical outcomes. MER-based DBS lead placement can proceed independently of the underlying genetic cause.

Genetic Etiology Influences the Low-Frequency Components of Globus Pallidus Internus Electrophysiology in Dystonia

Ahmet Kaymak
Co-primo
;
Alberto Mazzoni
;
2025-01-01

Abstract

Background Elevated low-frequency activity (4–12 Hz) within the globus pallidus internus (GPi) has been consistently associated with dystonia. However, the impacts of the genetic etiology of dystonia on low-frequency GPi activity remain unclear; yet it holds importance for adaptive deep brain stimulation (DBS) treatment. Methods We compared the properties of GPi electrophysiology acquired from 70 microelectrode recordings (MER) trajectories of DYT-GNAL, DYT-KMT2B, DYT-SGCE, DYT-THAP1, DYT-TOR1A, DYT-VPS16, and idiopathic dystonia (iDYT) patients who underwent GPi-DBS surgery across standard frequency bands. Results DYT-SGCE patients exhibited significantly lower alpha band activity (2.97%) compared to iDYT (4.44%, p = 0.006) and DYT-THAP1 (4.51%, p = 0.011). Additionally, theta band power was also significantly reduced in DYT-SGCE (4.42%) compared to iDYT and DYT-THAP1 (7.91% and 7.00%, p < 0.05). Instead, the genetic etiology of dystonia did not affect the spatial characteristics of GPi electrophysiology along MER trajectories. Conclusion Considering the genetic etiology of dystonia in closed-loop DBS treatments and utilizing theta and alpha activity for GPi stimulation may optimize clinical outcomes. MER-based DBS lead placement can proceed independently of the underlying genetic cause.
2025
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11382/576781
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