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  • The prevalence and clinical features of common LRRK2 mutations in Australians with Parkinson’s disease.

    Author
    Huang, Yue
    M. Halliday, Glenda
    Vandebona, Himesha
    Mellick, George
    Mastaglia, Frank
    Stevens, Julia
    Kwok, John
    Garlepp, Michael
    Silburn, Peter
    K. Horne, Malcolm
    Kotschet, Katya
    Venn, Alison
    B. Rowe, Dominic
    P. Rubio, Justin
    M. Sue, Carolyn
    Year published
    2007
    Metadata
    Show full item record
    Abstract
    Abstract: We determined the prevalence of two common leucine-rich repeat kinase 2 (LRRK2) gene mutations in Australian patients with Parkinson's disease (PD). Of 830 affected patients, eight were heterozygous for the G2019S mutation, and two were heterozygous for the R1441H (4,322 G A) mutation. In addition, one familial patient had a novel A1442P (4,324 G C) mutation. Haplotype analysis showed that all LRRK2 G2019S-positive individuals carried the common founder haplotype 1 and a putative founder haplotype for the R1441H mutation carriers. Clinically, patients with LRRK2 mutations had typical levodopa responsive ...
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    Abstract: We determined the prevalence of two common leucine-rich repeat kinase 2 (LRRK2) gene mutations in Australian patients with Parkinson's disease (PD). Of 830 affected patients, eight were heterozygous for the G2019S mutation, and two were heterozygous for the R1441H (4,322 G A) mutation. In addition, one familial patient had a novel A1442P (4,324 G C) mutation. Haplotype analysis showed that all LRRK2 G2019S-positive individuals carried the common founder haplotype 1 and a putative founder haplotype for the R1441H mutation carriers. Clinically, patients with LRRK2 mutations had typical levodopa responsive Parkinsonism with tremor being the commonest presenting feature. Patients with the G2019S mutation in our series had a similar age of onset of symptoms when compared with patients with other LRRK2 mutations or sporadic PD, although they were more likely to have a family history of PD (2.4% of Australian patients with familial PD and 0.3% of Australian patients with sporadic PD). Our results demonstrate that the G2019S mutation carriers share the same ancestors who migrated to Australia originally from Europe and that other LRRK2 mutations (R1441H and A1442P) can be found in this population.
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    Journal Title
    Movement Disorders
    Volume
    22
    Issue
    7
    Publisher URI
    http://www3.interscience.wiley.com/journal/76507419/home?CRETRY=1&SRETRY=0
    DOI
    https://doi.org/10.1002/mds.21477
    Copyright Statement
    © 2007 John Wiley & Sons, Ltd. Self-archiving of the author-manuscript version is not yet supported by this publisher. Please refer to the journal link for access to the definitive, published version or contact the author for more information.
    Publication URI
    http://hdl.handle.net/10072/18505
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