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

Y. Huang; G.M. Halliday; H. Vandebona; G.D. Mellick; F. Mastaglia; J. Stevens; J. Kwok; M. Garlepp; P.A. Silburn; M.K. Horne; K. Kotschet; A. Venn; D.B. Rowe; J.P. Rubio; C.M. Sue

doi:10.1002/mds.21477

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

Journal article

Peer reviewed

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

Y. Huang, G.M. Halliday, H. Vandebona, G.D. Mellick, F. Mastaglia, J. Stevens, J. Kwok, M. Garlepp, P.A. Silburn, M.K. Horne, …

Movement Disorders, Vol.22(7), pp.982-989

2007

DOI: https://doi.org/10.1002/mds.21477

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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.

Details

Title: Prevalence and clinical features of common LRRK2 mutations in Australians with Parkinson's Disease
Authors/Creators: Y. Huang (Author/Creator) - Neuroscience Research Australia
G.M. Halliday (Author/Creator) - Neuroscience Research Australia
H. Vandebona (Author/Creator) - Kolling Institute of Medical Research
G.D. Mellick (Author/Creator) - Royal Brisbane and Women's Hospital
F. Mastaglia (Author/Creator) - The University of Western Australia
J. Stevens (Author/Creator) - Neuroscience Research Australia
J. Kwok (Author/Creator)
M. Garlepp (Author/Creator) - Curtin University
P.A. Silburn (Author/Creator) - Royal Brisbane and Women's Hospital
M.K. Horne (Author/Creator) - Florey Institute of Neuroscience and Mental Health
K. Kotschet (Author/Creator) - Saint Vincent Health System
A. Venn (Author/Creator) - Menzies Research Institute
D.B. Rowe (Author/Creator) - Kolling Institute of Medical Research
J.P. Rubio (Author/Creator) - Florey Institute of Neuroscience and Mental Health
C.M. Sue (Author/Creator) - Kolling Institute of Medical Research
Publication Details: Movement Disorders, Vol.22(7), pp.982-989
Publisher: Wiley
Identifiers: 991005543734407891
Copyright: © 2007 Movement Disorder Society
Murdoch Affiliation: Murdoch University
Language: English
Resource Type: Journal article

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Collaboration types: Domestic collaboration
Citation topics: 1 Clinical & Life Sciences; 1.52 Neurodegenerative Diseases; 1.52.67 Parkinson's Disease
Web Of Science research areas: Clinical Neurology
ESI research areas: Neuroscience & Behavior