Association Between Glucocerebrosidase Mutations and Parkinson's Disease in Ireland
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چکیده
منابع مشابه
Strong association between glucocerebrosidase mutations and Parkinson's disease in Sweden
Several genetic studies have demonstrated an association between mutations in glucocerebrosidase (GBA), originally implicated in Gaucher's disease, and an increased risk of Parkinson's disease (PD). We have investigated the possible involvement of genetic GBA variations in PD in the Swedish population. Three GBA variants, E326K, N370S, and L444P were screened in the largest Swedish Parkinson co...
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 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 کاملThe association between lysosomal protein glucocerebrosidase and Parkinson's disease.
BACKGROUND In recent years, mutations in glucocerebrosidase gene (GBA), which encodes the lysosomal enzyme glucocerebrosidase (GCase) deficient in Gaucher disease (GD), were found to be the most widespread genetic for the development of Parkinson disease. AIM In this work, we investigated the possibility of a biological linkage between GCase and alpha-synuclein. MATERIALS AND METHODS siRNA ...
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ژورنال
عنوان ژورنال: Frontiers in Neurology
سال: 2020
ISSN: 1664-2295
DOI: 10.3389/fneur.2020.00527