AUTHOR=Jackson Nichelle N. , Stagray Jacob A. , Snell Heather D. TITLE=Cerebellar contributions to dystonia: unraveling the role of Purkinje cells and cerebellar nuclei JOURNAL=Dystonia VOLUME=4 YEAR=2025 URL=https://www.frontierspartnerships.org/journals/dystonia/articles/10.3389/dyst.2025.14006 DOI=10.3389/dyst.2025.14006 ISSN=2813-2106 ABSTRACT=
Dystonias are a group of neurodegenerative disorders that result in altered physiology associated with motor movements. Both the basal ganglia and the cerebellum, brain regions involved in motor learning, sensory perception integration, and reward, have been implicated in the pathology of dystonia, but the cellular and subcellular mechanisms remain diverse and for some forms of dystonia, elusive. The goal of the current review is to summarize recent evidence of cerebellar involvement in different subtypes of dystonia with a focus on Purkinje cell (PC) and cerebellar nuclei (CN) dysfunction, to find commonalities in the pathology that could lay the groundwork for the future development of therapeutics for patients with dystonia. Here we will briefly discuss the physical and functional connections between the basal ganglia and the cerebellum and how these connections could contribute to dystonic symptoms. We proceed to use human and animal model data to discuss the contributions of cerebellar cell types to specific dystonias and movement disorders where dystonia is a secondary symptom. Ultimately, we suggest PC and CN irregularity could be a locus for dystonia through impaired calcium dynamics.