This is the first study to experimentally identify the enhancers of four SCA genes, ATXN1, ATXN3, TBP and ITPR1, in the human cerebellum in order to broaden our knowledge of the molecular mechanisms regulating the expression of these genes and assist in the discovery of novel genetic variants causing SCA. The gene discussed is ITPR1; the disease is autosomal dominant cerebellar ataxia.