Photo by camstejim from unsplash
Alterations in the GBA gene (NM_000157.3) are the most important genetic risk factor for Parkinson's disease (PD). Biallelic GBA mutations cause the lysosomal storage disorder Gaucher's disease. The GBA variants… Click to show full abstract
Alterations in the GBA gene (NM_000157.3) are the most important genetic risk factor for Parkinson's disease (PD). Biallelic GBA mutations cause the lysosomal storage disorder Gaucher's disease. The GBA variants p.E365K and p.T408M are associated with PD but not with Gaucher's disease. The pathophysiological role of these variants needs to be further explored.
Keywords:
disease clinical;
variants parkinson;
clinical metabolomic;
gba variants;
metabolomic multimodal;
parkinson disease
Journal Title: Movement Disorders
Year Published: 2020
Link to full text (if available)
Share on Social Media: Sign Up to like & get
recommendations!
Journal Title: Movement Disorders
Year Published: 2020
Link to full text (if available)
Share on Social Media: Sign Up to like & get
recommendations!