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Neurosci Lett. 2010 Jan 14;468(3):198-201. doi: 10.1016/j.neulet.2009.10.080. Epub 2009 Oct 29.

A novel LRRK2 mutation in a mainland Chinese patient with familial Parkinson's disease.

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Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan 410008, PR China.


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.

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