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

• Published in: Neuroscience letters 2010-01, Vol.468 (3), p.198-201
• Main Authors: Wang, Lei, Guo, Ji-feng, Nie, Li-luo, Xu, Qian, Zuo, Xing, Sun, Qi-ying, Yan, Xin-xiang, Tang, Bei-sha
• Format: Article
• Language: English
• Subjects: Adult; Aged; Asian Continental Ancestry Group; Biological and medical sciences; China; Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases; Familial Parkinson's disease; Female; Fundamental and applied biological sciences. Psychology; Humans; Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; LRRK2; Male; Medical sciences; Middle Aged; Mutation; Mutations; Neurology; Parkinson Disease - genetics; Pedigree; Protein-Serine-Threonine Kinases - genetics; Vertebrates: nervous system and sense organs
• ISSN: 0304-3940; 1872-7972
• DOI: 10.1016/j.neulet.2009.10.080

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.