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1: Neurology. 2005 Oct 25;65(8):1319-21.Click here to read Links

Analysis of LRRK2 functional domains in nondominant Parkinson disease.

Skipper L, Shen H, Chua E, Bonnard C, Kolatkar P, Tan LC, Jamora RD, Puvan K, Puong KY, Zhao Y, Pavanni R, Wong MC, Yuen Y, Farrer M, Liu JJ, Tan EK.

Department of Population Genetics, Genome Institute of Singapore, Singapore.

A comprehensive sequence analysis of 29 exons that code for the functional domains of LRRK2 in 160 nondominant Parkinson disease (PD) patients was performed. Novel variant screening in a further 470 sporadic PD patients and 630 controls revealed two novel variants (R1067Q and IVS33 + 6 T>A), which are likely to be pathogenic in five patients. One patient presented initially with a typical essential tremor phenotype, expanding the phenotypic spectrum of LRRK2 mutations.

PMID: 16247070 [PubMed - indexed for MEDLINE]