Exploring the link between 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 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 کاملexploring the relationship between iranian efl learners multiple intelligences, locus of control and reading proficiency
12 چکیده تفاوت های فردی، به عنوان خصوصیات روانشناختی غالب، باید در سطوح مختلف تدریس و یادگیری زبان کاملاً مورد ملاحظه قرار گیرند. از میان تاثیرگذارترین سازه های روانشناختی که منجر به تفاوت های فردی می شوند، می توان ازهوش چندگانه و منبع کنترل نام برد. هوش چندگانه با جنبه های متفاوتی از هوش سر و کار دارد که ممکن است هر شخص از آن برخوردار باشد. منبع کنترل، به عنوان مفهوم روانشناختی دیگر، به استن...
15 صفحه اولThe 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 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 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: Trends in Molecular Medicine
سال: 2011
ISSN: 1471-4914
DOI: 10.1016/j.molmed.2011.05.003