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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Published in:Parkinsonism & related disorders 2011-01, Vol.17 (1), p.55-57
Main Authors: 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: Article
Language:English
Subjects:
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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Summary: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.
ISSN:1353-8020
1873-5126
DOI:10.1016/j.parkreldis.2010.09.009