Spinocerebellar ataxia type 1 (SCA1) is caused by a CAG repeat expansion in the Ataxin1 (ATXN1) gene and is one of the most intensely studied dominant ataxias. Numerous mouse and other animal models have been generated for SCA1 that recapitulate different aspects of the human disease. For ...
With disease-modifying drugs on the horizon for degenerative ataxias, ecologically valid, finely granulated, digital health measures are highly warranted t
Deep brain stimulation (DBS) relieves motor dysfunction in Parkinson’s disease, and other movement disorders. Here, we demonstrate the potential benefits of DBS in a model of ataxia by targeting the cerebellum, a major motor center in the brain. We use the Car8 mouse model of hereditary atax...
In the last few years, a lot of publications suggested that disabling cerebellar ataxias may develop through immune-mediated mechanisms. In this consensus paper, we discuss the clinical features of the main described immune-mediated cerebellar ataxias and address their presumed pathogenesis. Immune-med...