Cognitive Functioning of Glucocerebrosidase (GBA) Non-manifesting Carriers
نویسندگان
چکیده
منابع مشابه
Glucocerebrosidase activity in Parkinson's disease with and without GBA mutations.
Glucocerebrosidase (GBA) mutations have been associated with Parkinson's disease in numerous studies. However, it is unknown whether the increased risk of Parkinson's disease in GBA carriers is due to a loss of glucocerebrosidase enzymatic activity. We measured glucocerebrosidase enzymatic activity in dried blood spots in patients with Parkinson's disease (n = 517) and controls (n = 252) with a...
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Type I Gaucher disease (GD), the most common lysosomal storage disorder, is caused by recessive glucocerebrosidase mutations. Both patients with Type I GD and heterozygous glucocerebrosidase mutation carriers have increased Parkinson’s disease (PD) risk. Non-motor symptoms (NMS) are more frequent in PD with heterozygous glucocerebrosidase mutations (PD-GBA). We used the non-motor symptoms scale...
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ژورنال
عنوان ژورنال: Frontiers in Neurology
سال: 2021
ISSN: 1664-2295
DOI: 10.3389/fneur.2021.635958