Glucocerebrosidase mutations and the pathogenesis of Parkinson disease
نویسندگان
چکیده
منابع مشابه
Glucocerebrosidase 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 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 in the pathogenesis and treatment of Parkinson disease.
In PNAS, Sardi et al. describe that viral vector-mediated increase in glucocerebrosidase enzyme (GCase) activity can reverse synuclein-related pathological features and improve behavioral function in the D409V mouse model of Gaucher disease (GD) (1). This important study has several implications for our understanding of the pathogenesis of Parkinson disease (PD) and contributes toward the ratio...
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 کاملMutations in the glucocerebrosidase gene are associated with early-onset Parkinson disease.
OBJECTIVE To evaluate the frequency of glucocerebrosidase (GBA) mutations in cases and controls enrolled in the Genetic Epidemiology of Parkinson's Disease (GEPD) study. METHODS We sequenced all exons of the GBA gene in 278 Parkinson disease (PD) cases and 179 controls enrolled in GEPD, with a wide range of age at onset (AAO), and that included a subset of 178 Jewish cases and 85 Jewish contr...
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: Annals of Medicine
سال: 2013
ISSN: 0785-3890,1365-2060
DOI: 10.3109/07853890.2013.849003