Article
Glucocerebrosidase mutations in diffuse Lewy body disease.
Parkinsonism & related disorders - 1 Jan 2011
Nishioka Kenya, Ross Owen A, Vilariño-Güell Carles, Cobb Stephanie A, Kachergus Jennifer M, Mann David M A, Snowden Julie, Richardson Anna M T, Neary David, Robinson Christopher A, Rajput Alex, Papapetropoulos Spiridon, Mash Deborah C, Pahwa Rajesh, Lyons Kelly E, Wszolek Zbigniew K, Dickson Dennis W, Farrer Matthew J
Abstract excerpt
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...
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