During his life, the patient underwent extensive targeted testing for known genes associated with ataxia and spasticity (spastic paraplegias 3A, 4, and 7; spinocerebellar ataxias 1, 2, 3, 6, 7, and 14; FXN‐, APTX‐, SETX‐, PLP1‐, and LCFA‐related disorders). The gene discussed is APTX; the disease is Ataxia.