Glucocerebrosidase activity in Parkinson’s disease with and withoutGBAmutations
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...
متن کاملthe past hospitalization and its association with suicide attempts and ideation in patients with mdd and comparison with bmd (depressed type) group
چکیده ندارد.
Automatic, unsupervised classification of dyskinesia in patients with Parkinsons Disease
One of the characteristic symptoms of patients with Parkinson Disease (PD) is a rigidity of movement. These symptoms disappear after administration of Levodopa. However, the long-term use of levodopa causes involuntary movements (dyskinesia). A proper diagnosis requires an automatic, unsupervised method for the detection and classification of levodopa induced dyskinesia. The main problem, howev...
متن کاملGlucocerebrosidase Mutations in Parkinson Disease.
Following the discovery of a higher than expected incidence of Parkinson Disease (PD) in Gaucher disease, a lysosomal storage disorder, mutations in the glucocerebrocidase (GBA) gene, which encodes a lysosomal enzyme involved in sphingolipid degradation were explored in the context of idiopathic PD. GBA mutations are now known to be the single largest risk factor for development of idiopathic P...
متن کاملGlucocerebrosidase mutations in Gaucher disease.
BACKGROUND Thirty-six mutations that cause Gaucher disease, the most common glycolipid storage disorder, are known. Although both alleles of most patients with the disease contain one of these mutations, in a few patients one or both disease-producing alleles have remained unidentified. Identification of mutations in these patients is useful for genetic counseling. MATERIALS AND METHODS The D...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Brain
سال: 2015
ISSN: 0006-8950,1460-2156
DOI: 10.1093/brain/awv179