The Complicated Relationship between Gaucher Disease and Parkinsonism

The journal Neuron has published an article about the complicated relationship between Gaucher disease and Parkinsonism. The discovery of a link between mutations in GBA1, encoding the lysosomal enzyme glucocerebrosidase, and the synucleinopathies directly resulted from the clinical recognition of patients with Gaucher disease with parkinsonism. Mutations in GBA1 are now the most common known genetic risk factor for several Lewy body disorders, and an inverse relationship exists between levels of glucocerebrosidase and oligomeric α-synuclein. The full-text article you can find here.