The process that turns coded information in DNA into proteins requires two steps: transcription, in which DNA is used to generate a complementary RNA strand by RNA polymerase, and translation, in which RNA is used to produce a protein by ribosomes. Disrupting either step can slow or prevent the expression of a mutant gene. Ataxin 1 is involved in a number of signaling pathways and its expression is controlled by signaling pathways. The MAPK/ERK pathway has been shown to activate ataxin 1 expression, and MSK1 also phosphorylates ataxin 1, controlling its localization and degradation. Inhibitors of key proteins in this pathway may be used in combination therapy to potentially decrease expression and lower steady state concentrations of ataxin 1.One technique for disrupting translation, antisense oligonucleotide therapy, which uses single strands of RNA complementary to the target to prevent the target from binding to a ribosome and trigger the degradation of the target, has already begun clinical trials in other neurodegenerative disorders with many different delivery mechanisms. A similar technique is RNA interference or RNAi. Instead of complementary antisense strands of RNA, RNAi uses very small double stranded segments of RNA called small interfering RNA which triggers degradation of the target before it can be translated. Studies using RNAi agents delivered by adeno associated viruses (AAV) has been shown to halt progression of disease and lead to some recovery of function with treatment applied to only the deep cerebellar nuclei in mice and rhesus macaques.
From the first symptoms, duration is typically between one and three decades, where earlier onset correlates with faster progression.Spinocerebellar ataxia 1, like other SCAs, often causes dysarthria, a motor disorder of speech often manifest as slurring of words; pathological nystagmus, a disorder in which eyes drift involuntarily affecting vision; and gait and balance issues. SCA1 is also commonly present with dysphagia, a swallowing disorder that can cause choking while eating and drinking; and hypermetric saccades, where the eye tends to move faster or further than intended as it tracks an object or moves from one focus to another. As the disease progresses, more severe neurologic symptoms can appear like dysmetria, where limb movements consistently overshoot the desired position; dysdiadochokinesia, where repeated body movements become uncoordinated; or hypotonia, where muscles atrophy. While new symptoms appear as SCA1 progresses,  nystagmus may disappear as eye movements and saccades slow down. Fatality may ultimately be caused by loss of bulbar functions, but complications from symptoms, such as pneumonia from swallowing problems, or trauma from falls, can be fatal as well. The severity and exact phenotype of these symptoms may vary between types of SCA. SCA 1 dysarthria may vary in severity depending on the task and is often associated with more strained, strangled or harsh sounding vocalization than that of other disorders.Because of the significant variance between cases of SCA1, typical signs and symptoms may appear alongside more subtle or rare symptoms.