In 2014, two more GBA2 mutations in three ARCA patients in a Cypriot family were identified using homozygosity mapping and exome sequencing of chromosome 9: mutations in exon 11 (c.1780G>C) and in exon 15 (c.2201G>A) resulted in the amino-acid substitution D594H and R734H, respectively (Figure 2; Votsi et al., 2014). This evidence concerns the gene GBA2 and autosomal recessive cerebellar ataxia.