Further, we demonstrate that ARSACS (gene: SACS; n = 6, 22.2%), SCAR8 (gene: SYNE1; n = 5, 18.5%), SCAR9 (gene: ADCK3; n = 5, 18.5%) and AOA2 (gene: SETX; n = 4, 14.8%) are the most common recessive ataxia subtypes in the Chinese population. The gene discussed is SYNE1; the disease is cerebellar ataxia.