The cerebellum is the part of the brain that coordinates and finetunes human movement. Cerebellar diseases are often defined by ataxia such as jerky movements of the hands or problems in balance and walking. While individual cerebellar disorders are rare, their sheer number makes them a significant disease group, whose causes still remain largely uncharacterised on the cellular level. In fact, major barriers to ataxia research include their vast genetic and clinical heterogeneity and the lack of robust disease models. Our research aims at outlining the prevalence of childhood-onset cerebellar diseases in Northern Finland; identifying new cerebellar disorders; and creating modern disease models to study how neurons in the brain, specifically the Purkinje cells of the cerebellum, function differently in cerebellar diseases. Ultimately, we hope to set the stage for the development of new treatment options, including novel small-molecule drugs, in cerebellar diseases.

2023

2027