Pharmacological chaperons and GBA related Parkinson

The association between Gaucher disease or heterozygote mutations in the glucocerebrosidase (GBA) gene, and Parkinson disease is well documented. Understanding the molecular pathways that link between these conditions would help deciphering the pathways that leads to neuro-degeneration and would direct us toward possible therapies. Our current clinical knowledge regarding mutations in the GBA gene and Parkinson's disease will be presented. Based on the similar frequency of Parkinson's disease in Gaucher patients and in heterozygote GBA mutation carriers we speculate that substrate accumulation, which exist in Gaucher but is not significant in carriers, does not play an important role in the risk for PD.