Volume 22, Issue 7 p. 982-989
Research Article

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

Yue Huang PhD

Yue Huang PhD

Prince of Wales Medical Research Institute and University of New South Wales, Australia

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Glenda M. Halliday DSc

Glenda M. Halliday DSc

Prince of Wales Medical Research Institute and University of New South Wales, Australia

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Himesha Vandebona PhD

Himesha Vandebona PhD

Departments of Neurology and Neurogenetics, Kolling Institute, Royal North Shore Hospital and University of Sydney, Australia

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George D. Mellick PhD

George D. Mellick PhD

Eskitis Institute, Griffith University, Department of Neurology, Royal Brisbane and Womens Hospital, Brisbane, Queensland, Australia

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Frank Mastaglia MBBS, MD

Frank Mastaglia MBBS, MD

Centre for Neuromuscular and Neurological Disorders, Queen Elizabeth Centre II and University of Western Australia, Australia

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Julia Stevens BSc

Julia Stevens BSc

Prince of Wales Medical Research Institute and University of New South Wales, Australia

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John Kwok PhD

John Kwok PhD

Garvan Institute of Medical Research and University of New South Wales, Australia

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Michael Garlepp PhD

Michael Garlepp PhD

Western Australian Biomedical Research Institute, Curtin University of Technology, Australia

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Peter A. Silburn MBBS, PhD

Peter A. Silburn MBBS, PhD

Eskitis Institute, Griffith University, Department of Neurology, Royal Brisbane and Womens Hospital, Brisbane, Queensland, Australia

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Malcolm K. Horne MBBS, MD

Malcolm K. Horne MBBS, MD

Howard Florey Institute, The University of Melbourne, Australia

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Katya Kotschet MBBS

Katya Kotschet MBBS

St. Vincent's Hospital, Melbourne, Australia

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Alison Venn MBBS

Alison Venn MBBS

The Menzies Research Institute, Hobart, Australia

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Dominic B. Rowe MBBS, PhD

Dominic B. Rowe MBBS, PhD

Departments of Neurology and Neurogenetics, Kolling Institute, Royal North Shore Hospital and University of Sydney, Australia

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Justin P. Rubio PhD

Justin P. Rubio PhD

Howard Florey Institute, The University of Melbourne, Australia

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Carolyn M. Sue MBBS, PhD

Corresponding Author

Carolyn M. Sue MBBS, PhD

Departments of Neurology and Neurogenetics, Kolling Institute, Royal North Shore Hospital and University of Sydney, Australia

Department of Neurology and Neurogenetics, Kolling Institute, Royal North Shore Hospital and University of Sydney Reserve Rd, St Leonards, NSW, 2065, AustraliaSearch for more papers by this author
First published: 11 April 2007
Citations: 33

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. © 2007 Movement Disorder Society