Gene analysis of SACS
In this study, we presented three patients with ARSACS from two unrelated Chinese families. Two patients from one family had a homozygous frameshift variation in SACS (NM_014363) c.8310_8313delAGAT (p.Asp2771fs4*) due to a heterozygous gross deletion of 13q12.12. The third patient had compound heterozygous variations for c.2881C>T (p.Arg961*) and c.6409C>T (p.Gln2137*), inherited from the father and mother, respectively. To our knowledge, c.8310_8313delAGAT (p.Asp2771fs4*) is a novel variation, while c.2881C>T (p.Arg961*) and c.6409C>T (p.Gln2137*) have been previously reported.