Presentation and progression of cognitive symptoms in Parkinson's disease are highly variable. PD is a genetically complex disorder with multiple genetic risk factors and understanding the role that genes play in cognitive outcomes is important for patient counseling and treatment. Currently, there are seven well-described genes that increase the risk for PD, with variable levels of penetrance: SNCA, LRRK2, VPS35, PRKN, PINK1, DJ1 and GBA.
View Article and Find Full Text PDFRecent research has suggested a possible link between Parkinson's disease (PD) and Fabry disease. To test this relationship, we administered a self-report and family history questionnaire to determine the prevalence of PD in Fabry disease patients and family members with likely pathogenic alpha-galactosidase A (GLA) mutations. A total of 90 Fabry patients (77 from the online survey and 13 from the Icahn School of Medicine at Mount Sinai (ISMMS)) were included in the analysis.
View Article and Find Full Text PDF