ジストニア：メカニズムと新規治療法に関する洞察

Dystonia is a highly heterogeneous movement disorder with complex molecular underpinnings. This review aims to synthesize insights into pathophysiological mechanisms driving dystonia with emphasis on latest advances.

In recent years, key molecular pathways in dystonia have been elucidated, among them: aberrant transcriptional regulation, altered protein turnover, nuclear envelope dysfunction, and mitochondrial impairment. Emerging data reveal the interplay and convergence of some of these disease-related processes, highlighting overarching molecular vulnerabilities critical to pathogenesis. Deciphering molecular mechanisms underlying dystonia facilitates the stratification of affected individuals into biologically defined subgroups, which will be essential for the development of targeted therapies. Patient assessment based on individual molecular profiles represents a promising avenue for future therapeutic and preventive strategies in dystonia.