The Association Between ß-Glucocerebrosidase Mutations and Parkinsonism
نویسندگان
چکیده
منابع مشابه
Glucocerebrosidase mutations in primary parkinsonism
INTRODUCTION Mutations in the lysosomal glucocerebrosidase (GBA) gene increase the risk of Parkinson's Disease (PD). We determined the frequency and relative risk of major GBA mutations in a large series of Italian patients with primary parkinsonism. METHODS We studied 2766 unrelated consecutive patients with clinical diagnosis of primary degenerative parkinsonism (including 2350 PD), and 111...
متن کاملStrong 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 کاملParkinsonism Associated with Glucocerebrosidase Mutation
BACKGROUND Gaucher's disease is an autosomal recessive, lysosomal storage disease caused by mutations of the β-glucocerebrosidase gene (GBA). There is increasing evidence that GBA mutations are a genetic risk factor for the development of Parkinson's disease (PD). We report herein a family of Koreans exhibiting parkinsonism-associated GBA mutations. CASE REPORT A 44-year-old woman suffering f...
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: Current Neurology and Neuroscience Reports
سال: 2013
ISSN: 1528-4042,1534-6293
DOI: 10.1007/s11910-013-0368-x