Prevalence and clinical features of common LRRK2 mutations in Australians with Parkinson's Disease
Identifieur interne : 002C56 ( Main/Exploration ); précédent : 002C55; suivant : 002C57Prevalence 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 ] ; 2007-05-15.
Descripteurs français
- Wicri :
- geographic : Australie.
English descriptors
- KwdEn :
- A1442P, Aged, Australia (epidemiology), Cohort Studies, DNA Mutational Analysis, Family Health, Female, G2019S, Genetic Predisposition to Disease, Glycine (genetics), Humans, LRRK2, Male, Middle Aged, Mutation, Parkinson Disease (epidemiology), Parkinson Disease (genetics), Parkinson's disease, Prevalence, Protein-Serine-Threonine Kinases (genetics), R1441G/C/H, Serine (genetics).
- MESH :
- chemical , genetics : Glycine, Protein-Serine-Threonine Kinases, Serine.
- geographic , epidemiology : Australia.
- epidemiology : Parkinson Disease.
- genetics : Parkinson Disease.
- Aged, Cohort Studies, DNA Mutational Analysis, Family Health, Female, Genetic Predisposition to Disease, Humans, Male, Middle Aged, Mutation, 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. © 2007 Movement Disorder Society
Url:
DOI: 10.1002/mds.21477
Affiliations:
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Halliday</name><affiliation wicri:level="1"><country xml:lang="fr">Australie</country><wicri:regionArea>Prince of Wales Medical Research Institute and University of New South Wales</wicri:regionArea></affiliation></author><author><name sortKey="Vandebona, Himesha" sort="Vandebona, Himesha" uniqKey="Vandebona H" first="Himesha" last="Vandebona">Himesha Vandebona</name><affiliation wicri:level="1"><country xml:lang="fr">Australie</country><wicri:regionArea>Departments of Neurology and Neurogenetics, Kolling Institute, Royal North Shore Hospital and University of Sydney</wicri:regionArea><wicri:noRegion>Royal North Shore Hospital and University of Sydney</wicri:noRegion></affiliation></author><author><name sortKey="Mellick, George D" sort="Mellick, George D" uniqKey="Mellick G" first="George D." last="Mellick">George D. Mellick</name><affiliation wicri:level="1"><country xml:lang="fr">Australie</country><wicri:regionArea>Eskitis Institute, Griffith University, Department of Neurology, Royal Brisbane and Womens Hospital, Brisbane, Queensland</wicri:regionArea><wicri:noRegion>Queensland</wicri:noRegion></affiliation></author><author><name sortKey="Mastaglia, Frank" sort="Mastaglia, Frank" uniqKey="Mastaglia F" first="Frank" last="Mastaglia">Frank Mastaglia</name><affiliation wicri:level="1"><country xml:lang="fr">Australie</country><wicri:regionArea>Centre for Neuromuscular and Neurological Disorders, Queen Elizabeth Centre II and University of Western Australia</wicri:regionArea><wicri:noRegion>Queen Elizabeth Centre II and University of Western Australia</wicri:noRegion></affiliation></author><author><name sortKey="Stevens, Julia" sort="Stevens, Julia" uniqKey="Stevens J" first="Julia" last="Stevens">Julia Stevens</name><affiliation wicri:level="1"><country xml:lang="fr">Australie</country><wicri:regionArea>Prince of Wales Medical Research Institute and University of New South Wales</wicri:regionArea></affiliation></author><author><name sortKey="Kwok, John" sort="Kwok, John" uniqKey="Kwok J" first="John" last="Kwok">John Kwok</name><affiliation wicri:level="1"><country xml:lang="fr">Australie</country><wicri:regionArea>Garvan Institute of Medical Research and University of New South Wales</wicri:regionArea></affiliation></author><author><name sortKey="Garlepp, Michael" sort="Garlepp, Michael" uniqKey="Garlepp M" first="Michael" last="Garlepp">Michael Garlepp</name><affiliation wicri:level="1"><country xml:lang="fr">Australie</country><wicri:regionArea>Western Australian Biomedical Research Institute, Curtin University of Technology</wicri:regionArea><wicri:noRegion>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"><country xml:lang="fr">Australie</country><wicri:regionArea>Eskitis Institute, Griffith University, Department of Neurology, Royal Brisbane and Womens Hospital, Brisbane, Queensland</wicri:regionArea><wicri:noRegion>Queensland</wicri:noRegion></affiliation></author><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"><country xml:lang="fr">Australie</country><wicri:regionArea>Howard Florey Institute, The University of Melbourne</wicri:regionArea><wicri:noRegion>The University of Melbourne</wicri:noRegion></affiliation></author><author><name sortKey="Kotschet, Katya" sort="Kotschet, Katya" uniqKey="Kotschet K" first="Katya" last="Kotschet">Katya Kotschet</name><affiliation wicri:level="1"><country xml:lang="fr">Australie</country><wicri:regionArea>St. Vincent's Hospital, Melbourne</wicri:regionArea><wicri:noRegion>Melbourne</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"><country xml:lang="fr">Australie</country><wicri:regionArea>The Menzies Research Institute, Hobart</wicri:regionArea><wicri:noRegion>Hobart</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><affiliation wicri:level="1"><country xml:lang="fr">Australie</country><wicri:regionArea>Departments of Neurology and Neurogenetics, Kolling Institute, Royal North Shore Hospital and University of Sydney</wicri:regionArea><wicri:noRegion>Royal North Shore Hospital and University of Sydney</wicri:noRegion></affiliation></author><author><name sortKey="Rubio, Justin P" sort="Rubio, Justin P" uniqKey="Rubio J" first="Justin P." last="Rubio">Justin P. Rubio</name><affiliation wicri:level="1"><country xml:lang="fr">Australie</country><wicri:regionArea>Howard Florey Institute, The University of Melbourne</wicri:regionArea><wicri:noRegion>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"><country xml:lang="fr">Australie</country><wicri:regionArea>Departments of Neurology and Neurogenetics, Kolling Institute, Royal North Shore Hospital and University of Sydney</wicri:regionArea><wicri:noRegion>Royal North Shore Hospital and University of Sydney</wicri:noRegion></affiliation></author></analytic><monogr></monogr><series><title level="j">Movement Disorders</title><title level="j" type="abbrev">Mov. Disord.</title><idno type="ISSN">0885-3185</idno><idno type="eISSN">1531-8257</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2007-05-15">2007-05-15</date><biblScope unit="vol">22</biblScope><biblScope unit="issue">7</biblScope><biblScope unit="page" from="982">982</biblScope><biblScope unit="page" to="989">989</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">F275D786AAC8E9052AEBD504C587A540724265BF</idno><idno type="DOI">10.1002/mds.21477</idno><idno type="ArticleID">MDS21477</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>A1442P</term><term>Aged</term><term>Australia (epidemiology)</term><term>Cohort Studies</term><term>DNA Mutational Analysis</term><term>Family Health</term><term>Female</term><term>G2019S</term><term>Genetic Predisposition to Disease</term><term>Glycine (genetics)</term><term>Humans</term><term>LRRK2</term><term>Male</term><term>Middle Aged</term><term>Mutation</term><term>Parkinson Disease (epidemiology)</term><term>Parkinson Disease (genetics)</term><term>Parkinson's disease</term><term>Prevalence</term><term>Protein-Serine-Threonine Kinases (genetics)</term><term>R1441G/C/H</term><term>Serine (genetics)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Glycine</term><term>Protein-Serine-Threonine Kinases</term><term>Serine</term></keywords><keywords scheme="MESH" type="geographic" qualifier="epidemiology" xml:lang="en"><term>Australia</term></keywords><keywords scheme="MESH" qualifier="epidemiology" xml:lang="en"><term>Parkinson Disease</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Parkinson Disease</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Aged</term><term>Cohort Studies</term><term>DNA Mutational Analysis</term><term>Family Health</term><term>Female</term><term>Genetic Predisposition to Disease</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Mutation</term><term>Prevalence</term></keywords><keywords scheme="Wicri" type="geographic" xml:lang="fr"><term>Australie</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><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. © 2007 Movement Disorder Society</div></front></TEI><affiliations><list><country><li>Australie</li></country></list><tree><country name="Australie"><noRegion><name sortKey="Huang, Yue" sort="Huang, Yue" uniqKey="Huang Y" first="Yue" last="Huang">Yue Huang</name></noRegion><name sortKey="Garlepp, Michael" sort="Garlepp, Michael" uniqKey="Garlepp M" first="Michael" last="Garlepp">Michael Garlepp</name><name sortKey="Halliday, Glenda M" sort="Halliday, Glenda M" uniqKey="Halliday G" first="Glenda M." last="Halliday">Glenda M. Halliday</name><name sortKey="Horne, Malcolm K" sort="Horne, Malcolm K" uniqKey="Horne M" first="Malcolm K." last="Horne">Malcolm K. Horne</name><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><name sortKey="Rowe, Dominic B" sort="Rowe, Dominic B" uniqKey="Rowe D" first="Dominic B." last="Rowe">Dominic B. Rowe</name><name sortKey="Rubio, Justin P" sort="Rubio, Justin P" uniqKey="Rubio J" first="Justin P." last="Rubio">Justin P. Rubio</name><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><name sortKey="Sue, Carolyn M" sort="Sue, Carolyn M" uniqKey="Sue C" first="Carolyn M." last="Sue">Carolyn M. Sue</name><name sortKey="Vandebona, Himesha" sort="Vandebona, Himesha" uniqKey="Vandebona H" first="Himesha" last="Vandebona">Himesha Vandebona</name><name sortKey="Venn, Alison" sort="Venn, Alison" uniqKey="Venn A" first="Alison" last="Venn">Alison Venn</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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