A multi-gene panel sequencing of 118 ataxia genes (Supplementary Table S1) allowed the identification of a heterozygous mutation c.1913 + 2T > G in CACNA1A, affecting the canonical donor splice site of intron 14 (transcript NM_001127222.1, genomic sequence GL000139) (Figure 2A,B). The gene discussed is CACNA1A; the disease is Ataxia.