Parkinsonism & Related Disorders, Journal Year: 2024, Volume and Issue: unknown, P. 107246 - 107246
Published: Dec. 1, 2024
Language: Английский
Parkinsonism & Related Disorders, Journal Year: 2024, Volume and Issue: unknown, P. 107246 - 107246
Published: Dec. 1, 2024
Language: Английский
Annals of Neurology, Journal Year: 2025, Volume and Issue: unknown
Published: Jan. 30, 2025
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 genes, hinting at shared pathomechanism. However, neural dynamics supporting this remain largely unexplored. Methods Herein, we analyzed microelectrode recordings acquired during pallidal deep brain stimulation surgery 31 patients AOPEP , GNAL KMT2B PANK2 PLA2G6 SGCE THAP1 TOR1A and VPS16 We identified 1,694 single units whose activity was characterized by broad set of features. Results displayed higher firing regularity, whereas large fraction bursting neurons (> 26.6%), significantly exceeding rate other genes constituted an intermediate group, bridging these 2 groups, due to having highest degree spiking irregularity. Hierarchical clustering algorithms based on confirmed results obtained first‐order comparisons. Interpretation Despite lacking common molecular pathways, share overlapping structures patterns, particular regularity activity. propose that desynchronization facilitated bursts may explain variability (DBS) globus pallidus internus (GPi) outcomes across genetic syndromes. Lastly, investigating effects low‐frequency could optimize personalized adaptive DBS treatments dystonia. ANN NEUROL 2025
Language: Английский
Citations
1Parkinsonism & Related Disorders, Journal Year: 2025, Volume and Issue: unknown, P. 107350 - 107350
Published: Feb. 1, 2025
Language: Английский
Citations
0Parkinsonism & Related Disorders, Journal Year: 2024, Volume and Issue: unknown, P. 107246 - 107246
Published: Dec. 1, 2024
Language: Английский
Citations
1