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Prevalence and Clinical Features of Common LRRK2 Mutations in Australians with Parkinson's Disease

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Huang, Y and Horne, MK and Kotschet, K and Venn, AJ and Rowe, DB and Rubio, JP and Sue, CM and Halliday, GM and Vandebona, H and Mellick, GD and Mastaglia, F and Stevens, Julia and Kwok, J and Garlepp, M and Silburn, PA (2007) Prevalence and Clinical Features of Common LRRK2 Mutations in Australians with Parkinson's Disease. Movement Disorders, 22 (7). pp. 982-989. ISSN 0885-3185

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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.

Item Type: Article
Journal or Publication Title: Movement Disorders
Publisher: John Wiley & Sons, Inc.
Page Range: pp. 982-989
ISSN: 0885-3185
Identification Number - DOI: 10.1002/mds.21477
Additional Information:

The original publication is available at
http://www.interscience.wiley.com/

Date Deposited: 07 Apr 2008 14:26
Last Modified: 18 Nov 2014 03:34
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