Comprehensive Screening of a North American Parkinson’s Disease Cohort for LRRK2 MutationJohnson J. · Paisán-Ruíz C. · Lopez G. · Crews C. · Britton A. · Malkani R. · Evans E.W. · McInerney-Leo A. · Jain S. · Nussbaum R.L. · Foote K.D. · Mandel R.J. · Crawley A. · Reimsnider S. · Fernandez H.H. · Okun M.S. · Gwinn-Hardy K. · Singleton A.B.
aLaboratory of Neurogenetics, National Institute on Aging, bNeurogenetics Branch, National Institute of Neurological Disorders and Stroke and cGenetic Diseases Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Md.; dMedical Genetics, University of California, San Francisco, Calif., and eMovement Disorders Center, University of Florida, Gainesville, Fla., USA
Background: Recently, mutations in LRRK2 encoding the protein dardarin have been linked to an autosomal dominant form of parkinsonism. Objective: To identify mutations causing Parkinson’s disease (PD) in a cohort of North Americans with familial PD. Methods: We sequenced exons 1–51 of LRRK2 in 79 unrelated North American PD patients reporting a family history of the disease. Results: One patient had a missense mutation (Thr2356Ile) while two others had the common Gly2019Ser mutation. In addition, 1 patient had a 4-bp deletion in close proximity to the exon 19 splice donor (IVS20+4delGTAA) that in vitro abrogates normal splicing. Conclusions: Our observations in the 79 North American patients indicate that mutations in LRRK2 are associated with approximately 5% of PD cases with a positive family history. The results also show that G2019S represents approximately half of the LRRK2 mutations in United States PD cases with a family history of the disease. We have identified two novel mutations in LRRK2.
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