The proband previously underwent metabolic profiling (blood amino acids/acylcarnitines, urinary organic acids), DNA testing for repeat expansion ataxias (FXN, ATXN1, ATXN2, ATXN3), and gene panel sequencing to search for variants in genes associated with hereditary motor–sensory neuropathies and diseases with similar phenotypes. The gene discussed is ATXN2; the disease is cerebellar ataxia.