Glucocerebrosidase Mutations in Parkinson Disease
نویسندگان
چکیده
منابع مشابه
Glucocerebrosidase 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 and the pathogenesis of Parkinson disease.
Parkinson disease (PD) is the second most common neurodegenerative disease after Alzheimer disease with a lifetime risk in the UK population of almost 5%. An association between PD and Gaucher disease (GD) derived from the observation that GD patients and their heterozygous carrier relatives were at increased risk of PD. GD is an autosomal recessive lysosomal storage disorder caused by homozygo...
متن کاملThe relationship between glucocerebrosidase mutations and Parkinson disease
Parkinson disease (PD) is the second most common neurodegenerative disorder after Alzheimer disease, whereas Gaucher disease (GD) is the most frequent lysosomal storage disorder caused by homozygous mutations in the glucocerebrosidase (GBA1) gene. Increased risk of developing PD has been observed in both GD patients and carriers. It has been estimated that GBA1 mutations confer a 20- to 30-fold...
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 کاملMutations in the glucocerebrosidase gene confer a risk for Parkinson disease in North Africa.
since 1951, it is now a weekly with 48 issues per year. Heterozygous mutations in the glucocerebrosidase gene (GBA) encoding the enzyme deficient in Gaucher disease (GD), an autosomal recessive lysosomal storage disease, are the most common risk factors for parkinsonism in several populations. A large meta-analysis, pooling genotyping data for the most common mutations from 16 different centers...
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ژورنال
عنوان ژورنال: Journal of Parkinson's Disease
سال: 2017
ISSN: 1877-7171,1877-718X
DOI: 10.3233/jpd-171092