Among them, 10 patients carried dynamic variants of SCA (five with ATXN3, five with ATXN2), as well as three patients with variants in DRD-related genes (two with GCH1, one with TH), two patients bearing MAPT p.Asn279Lys related with FTLD, and one carrying homozygous GBA p.Phe76Val variant causing Gaucher’s disease, respectively. The gene discussed is TH; the disease is Gaucher disease.