期刊
PARKINSONISM & RELATED DISORDERS
卷 17, 期 1, 页码 55-57出版社
ELSEVIER SCI LTD
DOI: 10.1016/j.parkreldis.2010.09.009
关键词
DLBD; Gaucher disease; GBA; genetics
资金
- Morris K. Udall Center for Excellence in Parkinson Disease Research [P50 NS40256]
- Eli-Lilly
- family of Carl and Susan Bolch
- NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE [P50NS040256] Funding Source: NIH RePORTER
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. (C) 2010 Published by Elsevier Ltd.
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