@article{c55f49b7e3e64e1f9a5b9a10e3c58781,
title = "Glucosidase-beta variations and Lewy body disorders",
abstract = "It has been proposed that there is an increased frequency of glucosidase-β mutations in Lewy body disorders. Our comprehensive DNA sequencing approach found a small number of glucosidase-β 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-β variants have a limited role in susceptibility to Lewy body disease in North America.",
keywords = "Gaucher, Genetic, Lewy body, Parkinson",
author = "Farrer, {Matthew J.} and Williams, {Lindsey N.} and Algom, {Avi A.} and Jennifer Kachergus and Hulihan, {Mary M.} and Ross, {Owen A.} and Alex Rajput and Spiridon Papapetropoulos and Mash, {Deborah C.} and Dickson, {Dennis W.}",
note = "Funding Information: Mayo Clinic, Jacksonville is a Morris K. Udall Parkinson's Disease Research Center of Excellence (NINDS P50 #NS40256) and a Robert H. and Clarice Smith Fellowship (AAA). We are grateful to the Parkinson Society Canada. We thank Dr. Ellen Sidransky for helpful discussion on sequencing metholodology. The Brain Endowment Bank is sponsored in part by the NPF Inc. (Miami, FL 33136, USA). We would like to thank all those who have contributed to our research, particularly the patients and their families.",
year = "2009",
month = jul,
doi = "10.1016/j.parkreldis.2008.08.004",
language = "English (US)",
volume = "15",
pages = "414--416",
journal = "Parkinsonism and Related Disorders",
issn = "1353-8020",
publisher = "Elsevier BV",
number = "6",
}