European journal of neurology · 2025
Genetic Etiology Influences the Low-Frequency Components of Globus Pallidus Internus Electrophysiology in Dystonia.
СтатьяНазвание и аннотация: Перевод в очереди
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Kaymak Ahmet, Romito Luigi M, Colucci Fabiana, Andreasi Nico Golfrè, Telese Roberta, Rinaldo Sara, Levi Vincenzo, Zorzi Giovanna, Israel Zvi, Arkadir David, Bergman Hagai, Carecchio Miryam, Prokisch Holger, Zech Michael, Garavaglia Barbara, Mazzoni Alberto, Eleopra Roberto
Аннотация
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.
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.