No rare, likely pathogenic heterozygous or homozygous variants were identified in other neurogenetic- or ataxia-associated genes included in the targeted panel, including ATM, APTX, or SETX. Simultaneous WES on DNA samples from individuals V:1, V:2, and V:3 to look for variants in novel disease genes was performed. Here, APTX is linked to cerebellar ataxia.