title: A novel LRRK2 mutation in a mainland Chinese patient with familial Parkinson's disease.
abstract: 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.
authors.affiliation: Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan 410008, PR China.
authors.forename: Lei
authors.initials: L
authors.lastname: Wang
authors.forename: Ji-feng
authors.initials: JF
authors.lastname: Guo
authors.forename: Li-luo
authors.initials: LL
authors.lastname: Nie
authors.forename: Qian
authors.initials: Q
authors.lastname: Xu
authors.forename: Xing
authors.initials: X
authors.lastname: Zuo
authors.forename: Qi-ying
authors.initials: QY
authors.lastname: Sun
authors.forename: Xin-xiang
authors.initials: XX
authors.lastname: Yan
authors.forename: Bei-sha
authors.initials: BS
authors.lastname: Tang
mesh_terms: D000328:Adult; D000368:Aged; D044466:Asian People; D002681:China; D005260:Female; D006801:Humans; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010300:Parkinson Disease / Q000235:genetics*; D010375:Pedigree; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*
chemical_list: C495280:LRRK2 protein, human; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D017346:Protein Serine-Threonine Kinases