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Comprehensive screening of a north American Parkinson's disease cohort for LRRK2 mutation

Johnson, J; Paisan-Ruiz, C; Lopez, G; Crews, C; Britton, A; Malkani, R; Evans, EW; ... Singleton, AB; + view all (2007) Comprehensive screening of a north American Parkinson's disease cohort for LRRK2 mutation. NEURODEGENER DIS , 4 (5) 386 - 391. 10.1159/000105160.

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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 (Thr2356IIe) while two others had the common Gly2019Ser mutation. In addition, I 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. Copyright (c) 2007 S. Karger AG, Basel.

Type: Article
Title: Comprehensive screening of a north American Parkinson's disease cohort for LRRK2 mutation
DOI: 10.1159/000105160
Keywords: LRRK2, Parkinson's disease, dardarin encoding, mutation, GENE
UCL classification: UCL > Provost and Vice Provost Offices
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Clinical and Movement Neurosciences
URI: http://discovery.ucl.ac.uk/id/eprint/174673
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