A large-scale assessment of the diagnostic potential of detecting short tandem repeats expansion from WES data showed that by applying ExpansionHunter with optimized manual curation is capable of detecting some dynamic mutation associated with movement disorders, some genes associated with SCAs were included, such as ATXN1, ATXN3, ATXN7, and NOP56 (36). Here, ATXN1 is linked to movement disorder.