title: Glucosidase-beta variations and Lewy body disorders.
abstract: 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.
authors.affiliation: Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA. farrer.matthew@mayo.edu
authors.forename: Matthew J
authors.initials: MJ
authors.lastname: Farrer
authors.forename: Lindsey N
authors.initials: LN
authors.lastname: Williams
authors.forename: Avi A
authors.initials: AA
authors.lastname: Algom
authors.forename: Jennifer
authors.initials: J
authors.lastname: Kachergus
authors.forename: Mary M
authors.initials: MM
authors.lastname: Hulihan
authors.forename: Owen A
authors.initials: OA
authors.lastname: Ross
authors.forename: Alex
authors.initials: A
authors.lastname: Rajput
authors.forename: Spiridon
authors.initials: S
authors.lastname: Papapetropoulos
authors.forename: Deborah C
authors.initials: DC
authors.lastname: Mash
authors.forename: Dennis W
authors.initials: DW
authors.lastname: Dickson
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D004252:DNA Mutational Analysis; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D020961:Lewy Body Disease / Q000145:classification / Q000453:epidemiology / Q000235:genetics*; D008297:Male; D009154:Mutation; D009656:North America / Q000453:epidemiology; D001617:beta-Glucosidase / Q000235:genetics*
chemical_list: D001617:beta-Glucosidase