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.
Farrer
Matthew J
MJ
Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA. farrer.matthew@mayo.edu
Williams
Lindsey N
LN
Algom
Avi A
AA
Kachergus
Jennifer
J
Hulihan
Mary M
MM
Ross
Owen A
OA
Rajput
Alex
A
Papapetropoulos
Spiridon
S
Mash
Deborah C
DC
Dickson
Dennis W
DW
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*
D001617:beta-Glucosidase