Glucocerebrosidase deficiency in substantia nigra of parkinson disease brains
نویسندگان
چکیده
منابع مشابه
Glucocerebrosidase Deficiency in Substantia Nigra of Parkinson Disease Brains
OBJECTIVE Mutations in the glucocerebrosidase gene (GBA) represent a significant risk factor for developing Parkinson disease (PD). We investigated the enzymatic activity of glucocerebrosidase (GCase) in PD brains carrying heterozygote GBA mutations (PD+GBA) and sporadic PD brains. METHODS GCase activity was measured using a fluorescent assay in cerebellum, frontal cortex, putamen, amygdala, ...
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BACKGROUND Increased levels of free radicals and oxidative stress may contribute to the pathogenesis of substantia nigra (SN) injury in Parkinson disease (PD), but the initiating etiologic factors remain undefined in most cases. OBJECTIVE To determine the potential importance of immune mechanisms in triggering or amplifying neuronal injury, we assayed serum samples from patients with PD to de...
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Gaucher disease is an autosomal recessive disease, caused by a lack or functional deficiency of the lysosomal enzyme, glucocerebrosidase (GCase). Recently, mutations in the glucocerebrosidase gene (GBA) have been associated with Parkinson's disease (PD) and GBA mutations are now considered the most important genetic vulnerability factor for PD. In this study, we have investigated (i) in vivo wh...
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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...
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ژورنال
عنوان ژورنال: Annals of Neurology
سال: 2012
ISSN: 0364-5134,1531-8249
DOI: 10.1002/ana.23614