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Vol. 4, No. 5, 2007
Issue release date: July 2007
Section title: Original Paper
Neurodegenerative Dis 2007;4:386–391
(DOI:10.1159/000105160)

Comprehensive Screening of a North American Parkinson’s Disease Cohort for LRRK2 Mutation

Johnson 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

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Article / Publication Details

First-Page Preview
Abstract of Original Paper

Received: 8/22/2006
Accepted: 11/15/2006
Published online: 7/6/2007

Number of Print Pages: 6
Number of Figures: 3
Number of Tables: 2

ISSN: 1660-2854 (Print)
eISSN: 1660-2862 (Online)

For additional information: http://www.karger.com/NDD

Abstract

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.


  

Author Contacts

Andrew B. Singleton
Laboratory of Neurogenetics, National Institute on Aging
National Institutes of Health, Porter Neuroscience Research Center
Bethesda, MD 20892 (USA)
Tel. +1 301 451 6079, Fax +1 301 480 2830, E-Mail singleta@mail.nih.gov

  

Article Information

Janel Johnson and Coro Paisán-Ruíz contributed equally to this paper.

Received: August 22, 2006
Accepted after revision: November 15, 2006
Published online: July 6, 2007
Number of Print Pages : 6
Number of Figures : 3, Number of Tables : 2, Number of References : 13

  

Publication Details

Neurodegenerative Diseases

Vol. 4, No. 5, Year 2007 (Cover Date: July 2007)

Journal Editor: Nitsch, R.M. (Zürich)
ISSN: 1660–2854 (print), 1660–2862 (Online)

For additional information: http://www.karger.com/NDD


Article / Publication Details

First-Page Preview
Abstract of Original Paper

Received: 8/22/2006
Accepted: 11/15/2006
Published online: 7/6/2007

Number of Print Pages: 6
Number of Figures: 3
Number of Tables: 2

ISSN: 1660-2854 (Print)
eISSN: 1660-2862 (Online)

For additional information: http://www.karger.com/NDD


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