GBA Variants in Parkinson's Disease: Clinical, Metabolomic, and Multimodal Neuroimaging Phenotypes
Sign Up to like & getrecommendations! Published in 2020 at "Movement Disorders"
DOI: 10.1002/mds.28225
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… read more here.
Keywords: disease clinical; variants parkinson; clinical metabolomic; gba variants ... See more keywords
Reply to: “Differences in Sex‐Specific Frequency of Glucocerebrosidase Variant Carriers and Familial Parkinsonism”
Sign Up to like & getrecommendations! Published in 2023 at "Movement Disorders"
DOI: 10.1002/mds.29351
Abstract: We read with great interest the recently published article by Ortega et al reporting sex-specific differences of glucocerebrosidase (GBA) gene mutation frequencies in carriers with Parkinson’s disease (GBA-PD) of Ashkenazi Jewish ancestry. They observed unequal… read more here.
Keywords: gba; frequency; sex specific; gba variants ... See more keywords