SNCA and Parkinson disease: To this end, a metabolomics-based study investigating the biochemical metabolic profiles associated with GBA mutations (lysosomal GCase activity, glucosylceramides, ceramides, lactosylceramides, sphingosines, sphingomyelin and α-synuclein levels) in biofluids derived from PD patients carrying GBA mutations compared to PD-GBA-wildtype has recently confirmed that GBA variants have a relevant functional impact on biomarker profiles in patients, bridging the gap between genetics and biochemical status to allow an appropriate patient stratification for clinical trials [38] (Table 1).