Natural History and Biomarkers of Episodic Movement Disorders

Episodic movement disorders are rare neurological conditions characterized by recurrent attacks of abnormal movements or cerebellar dysfunction. Major clinical groups include paroxysmal dyskinesias (PxDs), which manifest as transient episodes of hyperkinetic movements, and episodic ataxias (EAs), characterized by recurrent episodes of cerebellar dysfunction. The clinical and genetic overlap between episodic movement disorders and epilepsy further complicates diagnosis, particularly when the phenomenology of attacks is difficult to characterize.Diagnosis relies on a detailed clinical history, careful characterization and, whenever possible, video documentation of attacks, neurological examination, neuroimaging, and genetic testing. The genetic landscape of episodic movement disorders continues to expand, revealing substantial molecular and phenotypic heterogeneity and providing new insights into the neuronal and circuit mechanisms underlying episodic neurological dysfunction. However, despite these advances, the natural history, genotype–phenotype correlations, and biomarkers of many episodic movement disorders remain poorly characterized. This represents an important barrier to accurate diagnosis and prognostication, objective assessment of disease burden, and the development of therapeutic trials.Recent international collaborative efforts focusing on individual genetic etiologies, including CACNA1A-related disorders, provide new opportunities to systematically investigate disease trajectories across larger cohorts. At the same time, advances in quantitative clinical phenotyping, electrophysiology, neuroimaging, genetic analysis, and digital technologies may enable the development of objective biomarkers for diagnosis, disease characterization, progression, and treatment response.This Research Topic will bring together original research, reviews, and other relevant contributions addressing the natural history and biomarkers of episodic movement disorders. We welcome studies investigating longitudinal clinical trajectories, genotype–phenotype correlations, clinical and digital phenotyping, neuroimaging and electrophysiological biomarkers, genetic and molecular biomarkers, diagnostic challenges at the interface with epilepsy, and the development and validation of outcome measures for future clinical trials. By integrating clinical, genetic, and biological approaches, this collection aims to advance the characterization of episodic movement disorders and facilitate the development of precision approaches to diagnosis, monitoring, and treatment. Topic editors: Elisabetta Indelicato, Juan Dario Ortigoza Escobar, Giacomo Garone, Joanna C Jen Source: https://www.frontiersin.org/research-topics/84949/natural-history-and-biomarkers-of-episodic-movement-disorders