Glucosidase-beta variations and Lewy body disorders.
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ABSTRACT:
SUBMITTER: Farrer MJ
PROVIDER: S-EPMC2970615 | biostudies-literature | 2009 Jul
REPOSITORIES: biostudies-literature
Publications
Glucosidase-beta variations and Lewy body disorders.
Farrer Matthew J MJ 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
Parkinsonism & related disorders 20081001 6
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 li ...[more]
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