Genetika extrapyramídových ochorení – orientácia v súčasných možnostiach a trendoch diagnostiky pre klinického neurológa // SOLEN

Neurológia pre prax 1/2025

Genetics of movement disorders – outline of current options and upcoming diagnostic trends for clinical neurologists

Movement disorders represent a heterogeneous group of diseases, often with a monogenic background. Especially thanks to technological progress in the field of sequencing, there has been a significant shift in diagnostic algorithms for this group of diseases in recent years, where "next-generation sequencing" methodologies are increasingly being used. The review article presents a current view of the genetic diagnostics of movement disorders, current testing options and upcoming trends, with a particular focus on pragmatic testing algorithms.

Keywords: genetics, parkinsonism, hyperkinetic disorders, NGS, WES, WGS, monogenic disorders, multiomics