MovDisordV3, Main, Exploration, bibRecord, 003081

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

Identifieur interne : 003081 ( Main/Exploration ); précédent : 003080; suivant : 003082

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

Auteurs : YUE HUANG [Australie] ; Glenda M. Halliday [Australie] ; Himesha Vandebona [Australie] ; George D. Mellick [Australie] ; Frank Mastaglia [Australie] ; Julia Stevens [Australie] ; John Kwok [Australie] ; Michael Garlepp [Australie] ; Peter A. Silburn [Australie] ; Malcolm K. Horne [Australie] ; Katya Kotschet [Australie] ; Alison Venn [Australie] ; Dominic B. Rowe [Australie] ; Justin P. Rubio [Australie] ; Carolyn M. Sue [Australie]

Source :

Movement disorders [ 0885-3185 ] ; 2007.

RBID : Pascal:07-0314954

Descripteurs français

Pascal (Inist)
- Système nerveux pathologie, Parkinson maladie, Prévalence, Mutation.

English descriptors

KwdEn :
- Mutation, Nervous system diseases, Parkinson disease, Prevalence.

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.

Affiliations:

Australie

Links toward previous steps (curation, corpus...)

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Le document en format XML

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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Prevalence and clinical features of common LRRK2 mutations in australians with Parkinson's disease</title>
<author><name sortKey="Yue Huang" sort="Yue Huang" uniqKey="Yue Huang" last="Yue Huang">YUE HUANG</name>
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<author><name sortKey="Halliday, Glenda M" sort="Halliday, Glenda M" uniqKey="Halliday G" first="Glenda M." last="Halliday">Glenda M. Halliday</name>
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<author><name sortKey="Vandebona, Himesha" sort="Vandebona, Himesha" uniqKey="Vandebona H" first="Himesha" last="Vandebona">Himesha Vandebona</name>
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<author><name sortKey="Stevens, Julia" sort="Stevens, Julia" uniqKey="Stevens J" first="Julia" last="Stevens">Julia Stevens</name>
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<author><name sortKey="Kwok, John" sort="Kwok, John" uniqKey="Kwok J" first="John" last="Kwok">John Kwok</name>
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<s3>AUS</s3>
<sZ>7 aut.</sZ>
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<author><name sortKey="Garlepp, Michael" sort="Garlepp, Michael" uniqKey="Garlepp M" first="Michael" last="Garlepp">Michael Garlepp</name>
<affiliation wicri:level="1"><inist:fA14 i1="06"><s1>Western Australian Biomedical Research Institute, Curtin University of Technology</s1>
<s3>AUS</s3>
<sZ>8 aut.</sZ>
</inist:fA14>
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<wicri:noRegion>Western Australian Biomedical Research Institute, Curtin University of Technology</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Silburn, Peter A" sort="Silburn, Peter A" uniqKey="Silburn P" first="Peter A." last="Silburn">Peter A. Silburn</name>
<affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Eskitis Institute, Griffith University, Department of Neurology, Royal Brisbane and Womens Hospital</s1>
<s2>Brisbane, Queensland</s2>
<s3>AUS</s3>
<sZ>4 aut.</sZ>
<sZ>9 aut.</sZ>
</inist:fA14>
<country>Australie</country>
<wicri:noRegion>Brisbane, Queensland</wicri:noRegion>
</affiliation>
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<author><name sortKey="Horne, Malcolm K" sort="Horne, Malcolm K" uniqKey="Horne M" first="Malcolm K." last="Horne">Malcolm K. Horne</name>
<affiliation wicri:level="1"><inist:fA14 i1="07"><s1>Howard Florey Institute, The University of Melbourne</s1>
<s3>AUS</s3>
<sZ>10 aut.</sZ>
<sZ>14 aut.</sZ>
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<country>Australie</country>
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</author>
<author><name sortKey="Kotschet, Katya" sort="Kotschet, Katya" uniqKey="Kotschet K" first="Katya" last="Kotschet">Katya Kotschet</name>
<affiliation wicri:level="1"><inist:fA14 i1="08"><s1>St. Vincent's Hospital</s1>
<s2>Melbourne</s2>
<s3>AUS</s3>
<sZ>11 aut.</sZ>
</inist:fA14>
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<wicri:noRegion>St. Vincent's Hospital</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Venn, Alison" sort="Venn, Alison" uniqKey="Venn A" first="Alison" last="Venn">Alison Venn</name>
<affiliation wicri:level="1"><inist:fA14 i1="09"><s1>The Menzies Research Institute</s1>
<s2>Hobart</s2>
<s3>AUS</s3>
<sZ>12 aut.</sZ>
</inist:fA14>
<country>Australie</country>
<wicri:noRegion>The Menzies Research Institute</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Rowe, Dominic B" sort="Rowe, Dominic B" uniqKey="Rowe D" first="Dominic B." last="Rowe">Dominic B. Rowe</name>
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<s3>AUS</s3>
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<sZ>13 aut.</sZ>
<sZ>15 aut.</sZ>
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<country>Australie</country>
<wicri:noRegion>Departments of Neurology and Neurogenetics, Kolling Institute, Royal North Shore Hospital and University of Sydney</wicri:noRegion>
</affiliation>
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<author><name sortKey="Rubio, Justin P" sort="Rubio, Justin P" uniqKey="Rubio J" first="Justin P." last="Rubio">Justin P. Rubio</name>
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<s3>AUS</s3>
<sZ>10 aut.</sZ>
<sZ>14 aut.</sZ>
</inist:fA14>
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<wicri:noRegion>Howard Florey Institute, The University of Melbourne</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Sue, Carolyn M" sort="Sue, Carolyn M" uniqKey="Sue C" first="Carolyn M." last="Sue">Carolyn M. Sue</name>
<affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Departments of Neurology and Neurogenetics, Kolling Institute, Royal North Shore Hospital and University of Sydney</s1>
<s3>AUS</s3>
<sZ>3 aut.</sZ>
<sZ>13 aut.</sZ>
<sZ>15 aut.</sZ>
</inist:fA14>
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<wicri:noRegion>Departments of Neurology and Neurogenetics, Kolling Institute, Royal North Shore Hospital and University of Sydney</wicri:noRegion>
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<series><title level="j" type="main">Movement disorders</title>
<title level="j" type="abbreviated">Mov. disord.</title>
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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Mutation</term>
<term>Nervous system diseases</term>
<term>Parkinson disease</term>
<term>Prevalence</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Système nerveux pathologie</term>
<term>Parkinson maladie</term>
<term>Prévalence</term>
<term>Mutation</term>
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<front><div type="abstract" xml:lang="en">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.</div>
</front>
</TEI>
<affiliations><list><country><li>Australie</li>
</country>
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<name sortKey="Kotschet, Katya" sort="Kotschet, Katya" uniqKey="Kotschet K" first="Katya" last="Kotschet">Katya Kotschet</name>
<name sortKey="Kwok, John" sort="Kwok, John" uniqKey="Kwok J" first="John" last="Kwok">John Kwok</name>
<name sortKey="Mastaglia, Frank" sort="Mastaglia, Frank" uniqKey="Mastaglia F" first="Frank" last="Mastaglia">Frank Mastaglia</name>
<name sortKey="Mellick, George D" sort="Mellick, George D" uniqKey="Mellick G" first="George D." last="Mellick">George D. Mellick</name>
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<name sortKey="Silburn, Peter A" sort="Silburn, Peter A" uniqKey="Silburn P" first="Peter A." last="Silburn">Peter A. Silburn</name>
<name sortKey="Stevens, Julia" sort="Stevens, Julia" uniqKey="Stevens J" first="Julia" last="Stevens">Julia Stevens</name>
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	Movement Disorders (revue)
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Movement Disorders (revue)

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

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

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