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

Spiking patterns in the globus pallidus highlight convergent neural dynamics across diverse genetic dystonia syndromes.

Ann. Neurol. 97, 826-844 (2025)

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OBJECTIVE: Genetic dystonia is a complex movement disorder with diverse clinical manifestations resulting from pathogenic mutations in associated genes. A recent paradigm shift emphasizes the functional convergence among dystonia genes, hinting at a shared pathomechanism. However, the neural dynamics supporting this convergence remain largely unexplored. METHODS: Herein, we analyzed microelectrode recordings acquired during pallidal deep brain stimulation surgery from 31 dystonia patients with pathogenic mutations in the AOPEP, GNAL, KMT2B, PANK2, PLA2G6, SGCE, THAP1, TOR1A, and VPS16 genes. We identified 1,694 single units whose activity was characterized by a broad set of neural features. RESULTS: AOPEP, PANK2, and THAP1 displayed higher firing regularity, whereas GNAL, PLA2G6, KMT2B, and SGCE shared a large fraction of bursting neurons (> 26.6%), significantly exceeding the rate in other genes. TOR1A and VPS16 genes constituted an intermediate group, bridging these 2 groups, due to having the highest degree of spiking irregularity. Hierarchical clustering algorithms based on these dynamics confirmed the results obtained with first-order comparisons. INTERPRETATION: Despite lacking common molecular pathways, dystonia genes share largely overlapping structures of neural patterns, in particular the degree of pallidal spiking regularity and bursting activity. We propose that the degree of desynchronization facilitated by pallidal neural bursts may explain the variability in deep brain stimulation (DBS) of the globus pallidus internus (GPi) surgery outcomes across genetic dystonia syndromes. Lastly, investigating the effects of genetic mutations on low-frequency pallidal activity could optimize personalized adaptive DBS treatments in patients with genetic dystonia. ANN NEUROL 2025.

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