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Kaymak, A.* ; Romito, L.M.* ; Colucci, F.* ; Andreasi, N.G.* ; Telese, R.* ; Rinaldo, S.* ; Levi, V.* ; Zorzi, G.* ; Israel, Z.* ; Arkadir, D.* ; Bergman, H.* ; Carecchio, M.* ; Prokisch, H. ; Zech, M. ; Garavaglia, B.* ; Mazzoni, A.* ; Eleopra, R.*

Genetic etiology influences the low-frequency components of globus pallidus internus electrophysiology in dystonia.

Eur. J. Neurol. 32:e70098 (2025)

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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.

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