Spinocerebellar ataxia type 1 (SCA1) is an autosomal dominant disorder caused by an expanded CAG repeat in the ATXN1 gene. The symptoms usually include ataxia, dysarthria and bulbar dysfunctions, with neuropathology most prominent in cerebellum and brainstem. Aberrant interactions with transcriptional regulator capicua (CIC) and the RNA splicing factor RBM17, influenced furthermore by phosphorylation of Ser776 in the ataxin-1 protein.
In the Neuro-D group we study disease pathology in patient fibroblast cells and iPSC.