期刊
NEUROSCIENCE LETTERS
卷 468, 期 3, 页码 198-201出版社
ELSEVIER IRELAND LTD
DOI: 10.1016/j.neulet.2009.10.080
关键词
Familial Parkinson's disease; LRRK2; Mutations
资金
- Major State Basic Research Development Program of China (973 Program) [20066500700]
- National 863 High-Tech Research and Development Program of China [2006AA02A408]
- National Natural Science Foundation of China [30570638, 30770735, 30971035, 30900469]
Mutations in the leucine-rich repeat kinase 2 gene (LRRK2) are known to cause typical, late-onset familial Parkinson's disease in different geographic origins. However, there was no report about mutations of LRRK2 gene in mainland China. The 51 coding exons and intron/exon boundaries of the LRRK2 gene were sequenced in nine families with Parkinson's disease. A novel LRRK2 missense mutation resulting in a single amino acid substitution K616R was present in one family with a dominant form of PD, and not in 200 controls. The patient presented with slowly progressive resting tremor, dyskinesia, and responded well to L-dopa. In conclusion, we identified a novel mutation in LRRK2 gene, which was the first mutation of LRRK2 found in the mainland Chinese population with familial Parkinson's disease. (C) 2009 Elsevier Ireland Ltd. All rights reserved.
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