SACS and cerebellar ataxia: Similarly, in another patient (ID: 9400f), who displayed ataxia and spastic gait, we observed a novel SACS p.Ser2711Leu variant (NM_014363.5:c.8132C > T) in compound heterozygous configuration with a known pathogenic variant (p.Arg2502∗; ClinVar ID: 5513).