Homozygous mutations in the GBA gene that encodes for the lysosomal acid beta glucosidase (GBA1) cause the most common lysosomal storage disorder Gaucher disease (GD)1.Gaucher disease is a heterogeneous disease and is categorised by the absence (type I) or presence (types II and III) of the central nervous system involvement with GD II being the most severe2. This evidence concerns the gene GBA1 and Gaucher disease type II.