Prevalence and clinical features of common LRRK2 mutations in Australians with Parkinson's disease

Huang, Yue, Halliday, Glenda M., Vandebona, Himesha, Mellick, George D., Mastaglia, Frank, Stevens, Julia, Kwok, John, Garlepp, Michael, Silburn, Peter A., Horne, Malcolm K., Kotschet, Katya, Venn, Alison, Rowe, Dominic B., Rubio, Justin P. and Sue, Carolyn M. (2007) Prevalence and clinical features of common LRRK2 mutations in Australians with Parkinson's disease. Movement Disorders, 22 7: 982-989. doi:10.1002/mds.21477

Author Huang, Yue
Halliday, Glenda M.
Vandebona, Himesha
Mellick, George D.
Mastaglia, Frank
Stevens, Julia
Kwok, John
Garlepp, Michael
Silburn, Peter A.
Horne, Malcolm K.
Kotschet, Katya
Venn, Alison
Rowe, Dominic B.
Rubio, Justin P.
Sue, Carolyn M.
Title Prevalence and clinical features of common LRRK2 mutations in Australians with Parkinson's disease
Journal name Movement Disorders   Check publisher's open access policy
ISSN 1531-8257
Publication date 2007-05-15
Sub-type Article (original research)
DOI 10.1002/mds.21477
Volume 22
Issue 7
Start page 982
End page 989
Total pages 8
Place of publication Hoboken, NJ, United States
Publisher John Wiley & Sons
Language eng
Subject 1109 Neurosciences
1103 Clinical Sciences
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.
Keyword Parkinson's disease
Q-Index Code C1
Q-Index Status Provisional Code
Institutional Status Non-UQ
Additional Notes Article first published online: 11 April 2007

Document type: Journal Article
Sub-type: Article (original research)
Collections: Excellence in Research Australia (ERA) - Collection
School of Medicine Publications
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Created: Fri, 22 Jan 2010, 20:23:51 EST by Elissa Saffery on behalf of Faculty Of Health Sciences