Glucocerebrosidase Mutations in a French-Canadian Parkinson's Disease Cohort
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 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 کاملNo TARDBP mutations in a French Canadian population of patients with Parkinson disease.
1. Palmer MS, Dryden AJ, Hughes JT, Collinge J. Homozygous prion protein genotype predisposes to sporadic Creutzfeldt-Jakob disease. Nature. 1991; 352(6333):340-342. 2. Dermaut B, Croes EA, Rademakers R, et al. PRNP Val129 homozygosity increases risk for early-onset Alzheimer’s disease. Ann Neurol. 2003;53(3): 409-412. 3. Golanska E, Hulas-Bigoszewska K, Rutkiewicz E, et al. Polymorphisms withi...
متن کاملGlucocerebrosidase activity in Parkinson's disease with and without GBA mutations.
Glucocerebrosidase (GBA) mutations have been associated with Parkinson's disease in numerous studies. However, it is unknown whether the increased risk of Parkinson's disease in GBA carriers is due to a loss of glucocerebrosidase enzymatic activity. We measured glucocerebrosidase enzymatic activity in dried blood spots in patients with Parkinson's disease (n = 517) and controls (n = 252) with a...
متن کاملGlucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease.
Mutations in the glucocerebrosidase gene (GBA) are associated with Gaucher's disease, the most common lysosomal storage disorder. Parkinsonism is an established feature of Gaucher's disease and an increased frequency of mutations in GBA has been reported in several different ethnic series with sporadic Parkinson's disease. In this study, we evaluated the frequency of GBA mutations in British pa...
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ژورنال
عنوان ژورنال: Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques
سال: 2011
ISSN: 0317-1671,2057-0155
DOI: 10.1017/s0317167100012300