@article{22ef50e9b6394e98abfc699619cc4453,
title = "Glucocerebrosidase mutations in diffuse Lewy body disease",
abstract = "Clinicogenetic and pathological studies have shown that mutations of the glucocerebrosidase gene (GBA) are a risk factor for Parkinson's disease and Lewy body disorders. In the present study, we have identified GBA mutations in 6.8% (4/59) of cases with a pathological diagnosis of diffuse Lewy body disease. Taken with previous studies, it appears that GBA mutations are associated with a more diffuse pattern of Lewy body distribution involving the cerebral cortex than the brainstem/limbic distribution observed in typical Parkinson's disease.",
keywords = "DLBD, GBA, Gaucher disease, Genetics",
author = "Kenya Nishioka and Ross, {Owen A.} and Carles Vilari{\~n}o-G{\"u}ell and Cobb, {Stephanie A.} and Kachergus, {Jennifer M.} and Mann, {David M.A.} and Julie Snowden and Richardson, {Anna M.T.} and David Neary and Robinson, {Christopher A.} and Alex Rajput and Spiridon Papapetropoulos and Mash, {Deborah C.} and Rajesh Pahwa and Lyons, {Kelly E.} and Wszolek, {Zbigniew K.} and Dickson, {Dennis W.} and Farrer, {Matthew J.}",
note = "Funding Information: The authors wish to thank the patients who participated in the study. This work was supported by the Morris K. Udall Center for Excellence in Parkinson Disease Research ( P50 NS40256 ). Dr Nishioka was supported by an Eli-Lilly scholarship and Herb Geist gift for Lewy body research. Drs. Ross and Wszolek and Dickson were supported by the family of Carl and Susan Bolch. Dr Papapetropoulos is currently employed by Allergan Inc (Irvine CA, USA). Dr. Farrer is a Canada Excellence Research Chair. ",
year = "2011",
month = jan,
doi = "10.1016/j.parkreldis.2010.09.009",
language = "English (US)",
volume = "17",
pages = "55--57",
journal = "Parkinsonism and Related Disorders",
issn = "1353-8020",
publisher = "Elsevier BV",
number = "1",
}