2009). The GBA substitution spectrum in the South African population mainly consisted of mild damaging and possibly benign substitutions. We have only identified a single p.N370S carrier (rs76763715) and no p.L444P carriers. Globally, these 2 substitutions are considered to be the two most common GBA substitutions in both GD and PD. As a result, numerous studies have only screened for those 2 substitutions (Sidransky et al. 2009). Here, GBA1 is linked to Parkinson disease.