Johanna Eerola-Rautio

TL;DR: The findings suggest that the intestinal microbiome is altered in PD and is related to motor phenotype, and the suitability of the microbiome as a biomarker is warranted.

TL;DR: The genetic determinants of PD age at onset are largely unknown and increasing evidence supports an extensive and complex genetic contribution to PD.

TL;DR: The overall Parkinson's disease genetic risk score modifies risk for disease and decreases age at onset in carriers of GBA variants, and common variability at genes implicated in lysosomal function exerts the largest effect on GBA associatedrisk for disease.

TL;DR: The clinical relevance of the findings is substantiated by the discovery of homozygous PARKIN (PARK2) p.S65N mutations in two unrelated patients with PD and biochemical and structural analysis demonstrates that the ParkinS 65N/S65n mutant is pathogenic and cannot be activated by PINK1.

TL;DR: It is demonstrated that variability at genes implicated in lysosomal function exerts the largest effect on GBA associated risk for disease, and these results have important implications for selection of GBA carriers for therapeutic interventions.