Glucosidase-beta variations and Lewy body disorders.
It has been proposed that there is an increased frequency of glucosidase-beta mutations in Lewy body disorders. Our comprehensive DNA sequencing approach found a small number of glucosidase-beta mutations in 101 neuropathologically defined Lewy body disease cases (3%) compared to 99 healthy post-mortem controls (1%); odds ratio 3.0 (95% CI: 0.3-29, p=0.3). All three affected carriers were classified as diffuse Lewy body disease (n=3/50; 6%). Our study suggests glucosidase-beta variants have a limited role in susceptibility to Lewy body disease in North America.
14 references, click to expand
-
Glucocerebrosidase mutations are also found in subjects with early-onset parkinsonism from Venezuela.Mov Disord. 2006 Feb;21(2):282-3 PMID: 16261622
-
Glucocerebrosidase mutations are an important risk factor for Lewy body disorders.Neurology. 2006 Sep 12;67(5):908-10 PMID: 16790605
-
Reciprocal and nonreciprocal recombination at the glucocerebrosidase gene region: implications for complexity in Gaucher disease.Am J Hum Genet. 2003 Mar;72(3):519-34 PMID: 12587096
-
Mutations in the glucocerebrosidase gene are associated with early-onset Parkinson disease.Neurology. 2007 Sep 18;69(12):1270-7 PMID: 17875915
-
Gaucher disease and the synucleinopathies.J Biomed Biotechnol. 2006;2006(3):78549 PMID: 17047314
-
Glucocerebrosidase gene mutations in patients with type 2 Gaucher disease.Hum Mutat. 2000;15(2):181-8 PMID: 10649495
-
Functional analysis of 13 GBA mutant alleles identified in Gaucher disease patients: Pathogenic changes and "modifier" polymorphisms.Hum Mutat. 2004 Jun;23(6):567-75 PMID: 15146461
-
Glucocerebrosidase gene mutations: a risk factor for Lewy body disorders.Arch Neurol. 2008 Mar;65(3):379-82 PMID: 18332251
-
Glucocerebrosidase gene mutations and Parkinson disease in the Norwegian population.Neurology. 2006 Feb 14;66(3):415-7 PMID: 16476943
-
Analysis of the glucocerebrosidase gene in Parkinson's disease.Mov Disord. 2005 Mar;20(3):367-70 PMID: 15517592
-
Mutations in the glucocerebrosidase gene and Parkinson's disease in Ashkenazi Jews.N Engl J Med. 2004 Nov 4;351(19):1972-7 PMID: 15525722
-
Genetics of Parkinson disease: paradigm shifts and future prospects.Nat Rev Genet. 2006 Apr;7(4):306-18 PMID: 16543934
-
Genotype-phenotype correlations between GBA mutations and Parkinson disease risk and onset.Neurology. 2008 Jun 10;70(24):2277-83 PMID: 18434642
-
Glucocerebrosidase mutations in subjects with parkinsonism.Mol Genet Metab. 2004 Jan;81(1):70-3 PMID: 14728994
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