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...

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Veröffentlicht in:	Parkinsonism & related disorders 2011-01, Vol.17 (1), p.55-57
Hauptverfasser:	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
Format:	Artikel
Sprache:	eng
Schlagworte:	Aged Brain - enzymology Brain - pathology Brain Stem - enzymology Brain Stem - pathology Cerebral Cortex - enzymology Cerebral Cortex - pathology DLBD DNA - genetics Female Gaucher disease Gaucher Disease - enzymology Gaucher Disease - genetics GBA genetics Glucosylceramidase - genetics Humans Lewy Body Disease - enzymology Lewy Body Disease - genetics Lewy Body Disease - pathology Limbic System - enzymology Limbic System - pathology Male Mutation - genetics Neurology
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