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Genetic Etiology Influences the Low-Frequency Components of Globus Pallidus Internus Electrophysiology in Dystonia.
Eur J Neurol
March 2025
Movement Disorders Department, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
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.
Spiking Patterns in the Globus Pallidus Highlight Convergent Neural Dynamics across Diverse Genetic Dystonia Syndromes.
Ann Neurol
May 2025
Movement Disorders Department, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
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.
View Article and Find Full Text PDFGenetic Landscape of Dystonia in Asian Indians.
Mov Disord Clin Pract
May 2025
Department of Neurology, All India Institute of Medical Sciences, New Delhi, India.
Article Synopsis
- The study aimed to identify genomic variations linked to dystonia in the Asian Indian population using next-generation sequencing.
- A total of 745 individuals were enrolled, and whole exome sequencing (WES) was performed on 267 patients, revealing pathogenic variants in 20.2% of them, including 14 novel variants.
- The gene THAP1 was found to be the most common associated with dystonia, and factors like multifocal/generalized distribution and family history increased the likelihood of finding positive results from WES.
Sex Differences in Dystonia.
Mov Disord Clin Pract
August 2024
Department of Neurology, Emory University School of Medicine, Atlanta, GA, USA.
Background: Prior studies have indicated that female individuals outnumber male individuals for certain types of dystonia. Few studies have addressed factors impacting these sex differences or their potential biological mechanisms.
Objectives: To evaluate factors underlying sex differences in the dystonias and explore potential mechanisms for these differences.
Long-Term Globus Pallidus Internus Deep Brain Stimulation in Pediatric Non-Degenerative Dystonia: A Cohort Study and a Meta-Analysis.
Mov Disord
July 2024
Child Neuropsychiatry Unit, Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy.
Background: The evidence in the effectiveness of deep brain stimulation in children with medication-refractory non-degenerative monogenic dystonia is heterogeneous and long-term results are sparse.
Objectives: The objective is to describe long-term outcomes in a single-center cohort and compare our results with a meta-analysis cohort form literature.
Methods: We performed a retrospective single-center cohort study including consecutive pediatric patients with non-degenerative genetic or idiopathic dystonia treated with globus pallidus internus deep brain stimulation at our center and a systematic review and individual-patient data meta-analysis with the same inclusion criteria.