Prevalence and clinical features of common LRRK2 mutations in Australians with Parkinson's Disease
Identifieur interne : 000D73 ( Main/Corpus ); précédent : 000D72; suivant : 000D74Prevalence and clinical features of common LRRK2 mutations in Australians with Parkinson's Disease
Auteurs : Yue Huang ; Glenda M. Halliday ; Himesha Vandebona ; George D. Mellick ; Frank Mastaglia ; Julia Stevens ; John Kwok ; Michael Garlepp ; Peter A. Silburn ; Malcolm K. Horne ; Katya Kotschet ; Alison Venn ; Dominic B. Rowe ; Justin P. Rubio ; Carolyn M. SueSource :
- Movement Disorders [ 0885-3185 ] ; 2007-05-15.
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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. © 2007 Movement Disorder Society
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DOI: 10.1002/mds.21477
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Halliday</name><affiliation><mods:affiliation>Prince of Wales Medical Research Institute and University of New South Wales, Australia</mods:affiliation></affiliation></author><author><name sortKey="Vandebona, Himesha" sort="Vandebona, Himesha" uniqKey="Vandebona H" first="Himesha" last="Vandebona">Himesha Vandebona</name><affiliation><mods:affiliation>Departments of Neurology and Neurogenetics, Kolling Institute, Royal North Shore Hospital and University of Sydney, Australia</mods:affiliation></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><mods:affiliation>Eskitis Institute, Griffith University, Department of Neurology, Royal Brisbane and Womens Hospital, Brisbane, Queensland, Australia</mods:affiliation></affiliation></author><author><name sortKey="Mastaglia, Frank" sort="Mastaglia, Frank" uniqKey="Mastaglia F" first="Frank" last="Mastaglia">Frank Mastaglia</name><affiliation><mods:affiliation>Centre for Neuromuscular and Neurological Disorders, Queen Elizabeth Centre II and University of Western Australia, Australia</mods:affiliation></affiliation></author><author><name sortKey="Stevens, Julia" sort="Stevens, Julia" uniqKey="Stevens J" first="Julia" last="Stevens">Julia Stevens</name><affiliation><mods:affiliation>Prince of Wales Medical Research Institute and University of New South Wales, Australia</mods:affiliation></affiliation></author><author><name sortKey="Kwok, John" sort="Kwok, John" uniqKey="Kwok J" first="John" last="Kwok">John Kwok</name><affiliation><mods:affiliation>Garvan Institute of Medical Research and University of New South Wales, Australia</mods:affiliation></affiliation></author><author><name sortKey="Garlepp, Michael" sort="Garlepp, Michael" uniqKey="Garlepp M" first="Michael" last="Garlepp">Michael Garlepp</name><affiliation><mods:affiliation>Western Australian Biomedical Research Institute, Curtin University of Technology, Australia</mods:affiliation></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><mods:affiliation>Eskitis Institute, Griffith University, Department of Neurology, Royal Brisbane and Womens Hospital, Brisbane, Queensland, Australia</mods:affiliation></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><mods:affiliation>Howard Florey Institute, The University of Melbourne, Australia</mods:affiliation></affiliation></author><author><name sortKey="Kotschet, Katya" sort="Kotschet, Katya" uniqKey="Kotschet K" first="Katya" last="Kotschet">Katya Kotschet</name><affiliation><mods:affiliation>St. Vincent's Hospital, Melbourne, Australia</mods:affiliation></affiliation></author><author><name sortKey="Venn, Alison" sort="Venn, Alison" uniqKey="Venn A" first="Alison" last="Venn">Alison Venn</name><affiliation><mods:affiliation>The Menzies Research Institute, Hobart, Australia</mods:affiliation></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><mods:affiliation>Departments of Neurology and Neurogenetics, Kolling Institute, Royal North Shore Hospital and University of Sydney, Australia</mods:affiliation></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><mods:affiliation>Howard Florey Institute, The University of Melbourne, Australia</mods:affiliation></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><mods:affiliation>Departments of Neurology and Neurogenetics, Kolling Institute, Royal North Shore Hospital and University of Sydney, Australia</mods:affiliation></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="volume">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>G2019S</term><term>LRRK2</term><term>Parkinson's disease</term><term>R1441G/C/H</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><istex><corpusName>wiley</corpusName><author><json:item><name>Yue Huang PhD</name><affiliations><json:string>Prince of Wales Medical Research Institute and University of New South Wales, Australia</json:string></affiliations></json:item><json:item><name>Glenda M. Halliday DSc</name><affiliations><json:string>Prince of Wales Medical Research Institute and University of New South Wales, Australia</json:string></affiliations></json:item><json:item><name>Himesha Vandebona PhD</name><affiliations><json:string>Departments of Neurology and Neurogenetics, Kolling Institute, Royal North Shore Hospital and University of Sydney, Australia</json:string></affiliations></json:item><json:item><name>George D. Mellick PhD</name><affiliations><json:string>Eskitis Institute, Griffith University, Department of Neurology, Royal Brisbane and Womens Hospital, Brisbane, Queensland, Australia</json:string></affiliations></json:item><json:item><name>Frank Mastaglia MBBS, MD</name><affiliations><json:string>Centre for Neuromuscular and Neurological Disorders, Queen Elizabeth Centre II and University of Western Australia, Australia</json:string></affiliations></json:item><json:item><name>Julia Stevens BSc</name><affiliations><json:string>Prince of Wales Medical Research Institute and University of New South Wales, Australia</json:string></affiliations></json:item><json:item><name>John Kwok PhD</name><affiliations><json:string>Garvan Institute of Medical Research and University of New South Wales, Australia</json:string></affiliations></json:item><json:item><name>Michael Garlepp PhD</name><affiliations><json:string>Western Australian Biomedical Research Institute, Curtin University of Technology, Australia</json:string></affiliations></json:item><json:item><name>Peter A. Silburn MBBS, PhD</name><affiliations><json:string>Eskitis Institute, Griffith University, Department of Neurology, Royal Brisbane and Womens Hospital, Brisbane, Queensland, Australia</json:string></affiliations></json:item><json:item><name>Malcolm K. Horne MBBS, MD</name><affiliations><json:string>Howard Florey Institute, The University of Melbourne, Australia</json:string></affiliations></json:item><json:item><name>Katya Kotschet MBBS</name><affiliations><json:string>St. Vincent's Hospital, Melbourne, Australia</json:string></affiliations></json:item><json:item><name>Alison Venn MBBS</name><affiliations><json:string>The Menzies Research Institute, Hobart, Australia</json:string></affiliations></json:item><json:item><name>Dominic B. Rowe MBBS, PhD</name><affiliations><json:string>Departments of Neurology and Neurogenetics, Kolling Institute, Royal North Shore Hospital and University of Sydney, Australia</json:string></affiliations></json:item><json:item><name>Justin P. Rubio PhD</name><affiliations><json:string>Howard Florey Institute, The University of Melbourne, Australia</json:string></affiliations></json:item><json:item><name>Carolyn M. Sue MBBS, PhD</name><affiliations><json:string>Departments of Neurology and Neurogenetics, Kolling Institute, Royal North Shore Hospital and University of Sydney, Australia</json:string></affiliations></json:item></author><subject><json:item><lang><json:string>eng</json:string></lang><value>Parkinson's disease</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>LRRK2</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>G2019S</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>R1441G/C/H</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>A1442P</value></json:item></subject><articleId><json:string>MDS21477</json:string></articleId><language><json:string>eng</json:string></language><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</abstract><qualityIndicators><score>6.37</score><pdfVersion>1.3</pdfVersion><pdfPageSize>594 x 792 pts</pdfPageSize><refBibsNative>true</refBibsNative><keywordCount>5</keywordCount><abstractCharCount>1245</abstractCharCount><pdfWordCount>4078</pdfWordCount><pdfCharCount>27056</pdfCharCount><pdfPageCount>8</pdfPageCount><abstractWordCount>191</abstractWordCount></qualityIndicators><title>Prevalence and clinical features of common LRRK2 mutations in Australians with Parkinson's Disease</title><genre><json:string>article</json:string></genre><host><volume>22</volume><publisherId><json:string>MDS</json:string></publisherId><pages><total>8</total><last>989</last><first>982</first></pages><issn><json:string>0885-3185</json:string></issn><issue>7</issue><subject><json:item><value>Research Article</value></json:item></subject><genre><json:string>Journal</json:string></genre><language><json:string>unknown</json:string></language><eissn><json:string>1531-8257</json:string></eissn><title>Movement Disorders</title><doi><json:string>10.1002/(ISSN)1531-8257</json:string></doi></host><publicationDate>2007</publicationDate><copyrightDate>2007</copyrightDate><doi><json:string>10.1002/mds.21477</json:string></doi><id>F275D786AAC8E9052AEBD504C587A540724265BF</id><fulltext><json:item><original>true</original><mimetype>application/pdf</mimetype><extension>pdf</extension><uri>https://api.istex.fr/document/F275D786AAC8E9052AEBD504C587A540724265BF/fulltext/pdf</uri></json:item><json:item><original>false</original><mimetype>application/zip</mimetype><extension>zip</extension><uri>https://api.istex.fr/document/F275D786AAC8E9052AEBD504C587A540724265BF/fulltext/zip</uri></json:item><istex:fulltextTEI uri="https://api.istex.fr/document/F275D786AAC8E9052AEBD504C587A540724265BF/fulltext/tei"><teiHeader><fileDesc><titleStmt><title level="a" type="main" xml:lang="en">Prevalence and clinical features of common LRRK2 mutations in Australians with Parkinson's Disease</title></titleStmt><publicationStmt><authority>ISTEX</authority><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><availability><p>WILEY</p></availability><date>2007</date></publicationStmt><notesStmt><note>National Health and Medical Research Council of Australia - No. #222727; No. #401537;</note><note>Australian Brain Foundation</note><note>CASS foundation</note><note>Rebecca L. Cooper Foundation</note><note>Royal Hobart Hospital Research Foundation</note><note>Neuromuscular Foundation of Western Australia</note></notesStmt><sourceDesc><biblStruct type="inbook"><analytic><title level="a" type="main" xml:lang="en">Prevalence and clinical features of common LRRK2 mutations in Australians with Parkinson's Disease</title><author><persName><forename type="first">Yue</forename><surname>Huang</surname></persName><roleName type="degree">PhD</roleName><affiliation>Prince of Wales Medical Research Institute and University of New South Wales, Australia</affiliation></author><author><persName><forename type="first">Glenda M.</forename><surname>Halliday</surname></persName><roleName type="degree">DSc</roleName><affiliation>Prince of Wales Medical Research Institute and University of New South Wales, Australia</affiliation></author><author><persName><forename type="first">Himesha</forename><surname>Vandebona</surname></persName><roleName type="degree">PhD</roleName><affiliation>Departments of Neurology and Neurogenetics, Kolling Institute, Royal North Shore Hospital and University of Sydney, Australia</affiliation></author><author><persName><forename type="first">George D.</forename><surname>Mellick</surname></persName><roleName type="degree">PhD</roleName><affiliation>Eskitis Institute, Griffith University, Department of Neurology, Royal Brisbane and Womens Hospital, Brisbane, Queensland, Australia</affiliation></author><author><persName><forename type="first">Frank</forename><surname>Mastaglia</surname></persName><roleName type="degree">MBBS, MD</roleName><affiliation>Centre for Neuromuscular and Neurological Disorders, Queen Elizabeth Centre II and University of Western Australia, Australia</affiliation></author><author><persName><forename type="first">Julia</forename><surname>Stevens</surname></persName><roleName type="degree">BSc</roleName><affiliation>Prince of Wales Medical Research Institute and University of New South Wales, Australia</affiliation></author><author><persName><forename type="first">John</forename><surname>Kwok</surname></persName><roleName type="degree">PhD</roleName><affiliation>Garvan Institute of Medical Research and University of New South Wales, Australia</affiliation></author><author><persName><forename type="first">Michael</forename><surname>Garlepp</surname></persName><roleName type="degree">PhD</roleName><affiliation>Western Australian Biomedical Research Institute, Curtin University of Technology, Australia</affiliation></author><author><persName><forename type="first">Peter A.</forename><surname>Silburn</surname></persName><roleName type="degree">MBBS, PhD</roleName><affiliation>Eskitis Institute, Griffith University, Department of Neurology, Royal Brisbane and Womens Hospital, Brisbane, Queensland, Australia</affiliation></author><author><persName><forename type="first">Malcolm K.</forename><surname>Horne</surname></persName><roleName type="degree">MBBS, MD</roleName><affiliation>Howard Florey Institute, The University of Melbourne, Australia</affiliation></author><author><persName><forename type="first">Katya</forename><surname>Kotschet</surname></persName><roleName type="degree">MBBS</roleName><affiliation>St. Vincent's Hospital, Melbourne, Australia</affiliation></author><author><persName><forename type="first">Alison</forename><surname>Venn</surname></persName><roleName type="degree">MBBS</roleName><affiliation>The Menzies Research Institute, Hobart, Australia</affiliation></author><author><persName><forename type="first">Dominic B.</forename><surname>Rowe</surname></persName><roleName type="degree">MBBS, PhD</roleName><affiliation>Departments of Neurology and Neurogenetics, Kolling Institute, Royal North Shore Hospital and University of Sydney, Australia</affiliation></author><author><persName><forename type="first">Justin P.</forename><surname>Rubio</surname></persName><roleName type="degree">PhD</roleName><affiliation>Howard Florey Institute, The University of Melbourne, Australia</affiliation></author><author><persName><forename type="first">Carolyn M.</forename><surname>Sue</surname></persName><roleName type="degree">MBBS, PhD</roleName><note type="correspondence"><p>Correspondence: Department of Neurology and Neurogenetics, Kolling Institute, Royal North Shore Hospital and University of Sydney Reserve Rd, St Leonards, NSW, 2065, Australia</p></note><affiliation>Departments of Neurology and Neurogenetics, Kolling Institute, Royal North Shore Hospital and University of Sydney, Australia</affiliation></author></analytic><monogr><title level="j">Movement Disorders</title><title level="j" type="abbrev">Mov. Disord.</title><idno type="pISSN">0885-3185</idno><idno type="eISSN">1531-8257</idno><idno type="DOI">10.1002/(ISSN)1531-8257</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2007-05-15"></date><biblScope unit="volume">22</biblScope><biblScope unit="issue">7</biblScope><biblScope unit="page" from="982">982</biblScope><biblScope unit="page" to="989">989</biblScope></imprint></monogr><idno type="istex">F275D786AAC8E9052AEBD504C587A540724265BF</idno><idno type="DOI">10.1002/mds.21477</idno><idno type="ArticleID">MDS21477</idno></biblStruct></sourceDesc></fileDesc><profileDesc><creation><date>2007</date></creation><langUsage><language ident="en">en</language></langUsage><abstract xml:lang="en"><p>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</p></abstract><textClass xml:lang="en"><keywords scheme="keyword"><list><head>Keywords</head><item><term>Parkinson's disease</term></item><item><term>LRRK2</term></item><item><term>G2019S</term></item><item><term>R1441G/C/H</term></item><item><term>A1442P</term></item></list></keywords></textClass><textClass><keywords scheme="Journal Subject"><list><head>article category</head><item><term>Research Article</term></item></list></keywords></textClass></profileDesc><revisionDesc><change when="2006-12-14">Received</change><change when="2007-02-23">Registration</change><change when="2007-05-15">Published</change></revisionDesc></teiHeader></istex:fulltextTEI><json:item><original>false</original><mimetype>text/plain</mimetype><extension>txt</extension><uri>https://api.istex.fr/document/F275D786AAC8E9052AEBD504C587A540724265BF/fulltext/txt</uri></json:item></fulltext><metadata><istex:metadataXml wicri:clean="Wiley, elements deleted: body"><istex:xmlDeclaration>version="1.0" encoding="UTF-8" standalone="yes"</istex:xmlDeclaration><istex:document><component version="2.0" type="serialArticle" xml:lang="en"><header><publicationMeta level="product"><publisherInfo><publisherName>Wiley Subscription Services, Inc., A Wiley Company</publisherName><publisherLoc>Hoboken</publisherLoc></publisherInfo><doi registered="yes">10.1002/(ISSN)1531-8257</doi><issn type="print">0885-3185</issn><issn type="electronic">1531-8257</issn><idGroup><id type="product" value="MDS"></id></idGroup><titleGroup><title type="main" xml:lang="en" sort="MOVEMENT DISORDERS">Movement Disorders</title><title type="short">Mov. Disord.</title></titleGroup></publicationMeta><publicationMeta level="part" position="70"><doi origin="wiley" registered="yes">10.1002/mds.v22:7</doi><numberingGroup><numbering type="journalVolume" number="22">22</numbering><numbering type="journalIssue">7</numbering></numberingGroup><coverDate startDate="2007-05-15">15 May 2007</coverDate></publicationMeta><publicationMeta level="unit" type="article" position="120" status="forIssue"><doi origin="wiley" registered="yes">10.1002/mds.21477</doi><idGroup><id type="unit" value="MDS21477"></id></idGroup><countGroup><count type="pageTotal" number="8"></count></countGroup><titleGroup><title type="articleCategory">Research Article</title><title type="tocHeading1">Research Articles</title></titleGroup><copyright ownership="thirdParty">Copyright © 2007 Movement Disorder Society</copyright><eventGroup><event type="manuscriptReceived" date="2006-12-14"></event><event type="manuscriptRevised" date="2007-01-30"></event><event type="manuscriptAccepted" date="2007-02-23"></event><event type="publishedOnlineEarlyUnpaginated" date="2007-04-11"></event><event type="firstOnline" date="2007-04-11"></event><event type="publishedOnlineFinalForm" date="2007-05-25"></event><event type="xmlConverted" agent="Converter:JWSART34_TO_WML3G version:2.3.16 mode:FullText" date="2010-08-19"></event><event type="xmlConverted" agent="Converter:WILEY_ML3G_TO_WILEY_ML3GV2 version:3.8.8" date="2014-02-02"></event><event type="xmlConverted" agent="Converter:WML3G_To_WML3G version:4.1.7 mode:FullText,remove_FC" date="2014-10-31"></event></eventGroup><numberingGroup><numbering type="pageFirst">982</numbering><numbering type="pageLast">989</numbering></numberingGroup><correspondenceTo>Department of Neurology and Neurogenetics, Kolling Institute, Royal North Shore Hospital and University of Sydney Reserve Rd, St Leonards, NSW, 2065, Australia</correspondenceTo><linkGroup><link type="toTypesetVersion" href="file:MDS.MDS21477.pdf"></link></linkGroup></publicationMeta><contentMeta><countGroup><count type="figureTotal" number="1"></count><count type="tableTotal" number="4"></count><count type="referenceTotal" number="36"></count><count type="wordTotal" number="4995"></count></countGroup><titleGroup><title type="main" xml:lang="en">Prevalence and clinical features of common LRRK2 mutations in Australians with Parkinson's Disease</title><title type="short" xml:lang="en">Common LRRK2 Mutations in Australian PD</title></titleGroup><creators><creator xml:id="au1" creatorRole="author" affiliationRef="#af1"><personName><givenNames>Yue</givenNames><familyName>Huang</familyName><degrees>PhD</degrees></personName></creator><creator xml:id="au2" creatorRole="author" affiliationRef="#af1"><personName><givenNames>Glenda M.</givenNames><familyName>Halliday</familyName><degrees>DSc</degrees></personName></creator><creator xml:id="au3" creatorRole="author" affiliationRef="#af2"><personName><givenNames>Himesha</givenNames><familyName>Vandebona</familyName><degrees>PhD</degrees></personName></creator><creator xml:id="au4" creatorRole="author" affiliationRef="#af3"><personName><givenNames>George D.</givenNames><familyName>Mellick</familyName><degrees>PhD</degrees></personName></creator><creator xml:id="au5" creatorRole="author" affiliationRef="#af4"><personName><givenNames>Frank</givenNames><familyName>Mastaglia</familyName><degrees>MBBS, MD</degrees></personName></creator><creator xml:id="au6" creatorRole="author" affiliationRef="#af1"><personName><givenNames>Julia</givenNames><familyName>Stevens</familyName><degrees>BSc</degrees></personName></creator><creator xml:id="au7" creatorRole="author" affiliationRef="#af5"><personName><givenNames>John</givenNames><familyName>Kwok</familyName><degrees>PhD</degrees></personName></creator><creator xml:id="au8" creatorRole="author" affiliationRef="#af6"><personName><givenNames>Michael</givenNames><familyName>Garlepp</familyName><degrees>PhD</degrees></personName></creator><creator xml:id="au9" creatorRole="author" affiliationRef="#af3"><personName><givenNames>Peter A.</givenNames><familyName>Silburn</familyName><degrees>MBBS, PhD</degrees></personName></creator><creator xml:id="au10" creatorRole="author" affiliationRef="#af7"><personName><givenNames>Malcolm K.</givenNames><familyName>Horne</familyName><degrees>MBBS, MD</degrees></personName></creator><creator xml:id="au11" creatorRole="author" affiliationRef="#af8"><personName><givenNames>Katya</givenNames><familyName>Kotschet</familyName><degrees>MBBS</degrees></personName></creator><creator xml:id="au12" creatorRole="author" affiliationRef="#af9"><personName><givenNames>Alison</givenNames><familyName>Venn</familyName><degrees>MBBS</degrees></personName></creator><creator xml:id="au13" creatorRole="author" affiliationRef="#af2"><personName><givenNames>Dominic B.</givenNames><familyName>Rowe</familyName><degrees>MBBS, PhD</degrees></personName></creator><creator xml:id="au14" creatorRole="author" affiliationRef="#af7"><personName><givenNames>Justin P.</givenNames><familyName>Rubio</familyName><degrees>PhD</degrees></personName></creator><creator xml:id="au15" creatorRole="author" affiliationRef="#af2" corresponding="yes"><personName><givenNames>Carolyn M.</givenNames><familyName>Sue</familyName><degrees>MBBS, PhD</degrees></personName><contactDetails><email>csue@med.usyd.edu.au</email></contactDetails></creator></creators><affiliationGroup><affiliation xml:id="af1" countryCode="AU" type="organization"><unparsedAffiliation>Prince of Wales Medical Research Institute and University of New South Wales, Australia</unparsedAffiliation></affiliation><affiliation xml:id="af2" countryCode="AU" type="organization"><unparsedAffiliation>Departments of Neurology and Neurogenetics, Kolling Institute, Royal North Shore Hospital and University of Sydney, Australia</unparsedAffiliation></affiliation><affiliation xml:id="af3" countryCode="AU" type="organization"><unparsedAffiliation>Eskitis Institute, Griffith University, Department of Neurology, Royal Brisbane and Womens Hospital, Brisbane, Queensland, Australia</unparsedAffiliation></affiliation><affiliation xml:id="af4" countryCode="AU" type="organization"><unparsedAffiliation>Centre for Neuromuscular and Neurological Disorders, Queen Elizabeth Centre II and University of Western Australia, Australia</unparsedAffiliation></affiliation><affiliation xml:id="af5" countryCode="AU" type="organization"><unparsedAffiliation>Garvan Institute of Medical Research and University of New South Wales, Australia</unparsedAffiliation></affiliation><affiliation xml:id="af6" countryCode="AU" type="organization"><unparsedAffiliation>Western Australian Biomedical Research Institute, Curtin University of Technology, Australia</unparsedAffiliation></affiliation><affiliation xml:id="af7" countryCode="AU" type="organization"><unparsedAffiliation>Howard Florey Institute, The University of Melbourne, Australia</unparsedAffiliation></affiliation><affiliation xml:id="af8" countryCode="AU" type="organization"><unparsedAffiliation>St. Vincent's Hospital, Melbourne, Australia</unparsedAffiliation></affiliation><affiliation xml:id="af9" countryCode="AU" type="organization"><unparsedAffiliation>The Menzies Research Institute, Hobart, Australia</unparsedAffiliation></affiliation></affiliationGroup><keywordGroup xml:lang="en" type="author"><keyword xml:id="kwd1">Parkinson's disease</keyword><keyword xml:id="kwd2">LRRK2</keyword><keyword xml:id="kwd3">G2019S</keyword><keyword xml:id="kwd4">R1441G/C/H</keyword><keyword xml:id="kwd5">A1442P</keyword></keywordGroup><fundingInfo><fundingAgency>National Health and Medical Research Council of Australia</fundingAgency><fundingNumber>#222727</fundingNumber><fundingNumber>#401537</fundingNumber></fundingInfo><fundingInfo><fundingAgency>Australian Brain Foundation</fundingAgency></fundingInfo><fundingInfo><fundingAgency>CASS foundation</fundingAgency></fundingInfo><fundingInfo><fundingAgency>Rebecca L. Cooper Foundation</fundingAgency></fundingInfo><fundingInfo><fundingAgency>Royal Hobart Hospital Research Foundation</fundingAgency></fundingInfo><fundingInfo><fundingAgency>Neuromuscular Foundation of Western Australia</fundingAgency></fundingInfo><abstractGroup><abstract type="main" xml:lang="en"><title type="main">Abstract</title><p>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</p></abstract></abstractGroup></contentMeta></header></component></istex:document></istex:metadataXml><mods version="3.6"><titleInfo lang="en"><title>Prevalence and clinical features of common LRRK2 mutations in Australians with Parkinson's Disease</title></titleInfo><titleInfo type="abbreviated" lang="en"><title>Common LRRK2 Mutations in Australian PD</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>Prevalence and clinical features of common LRRK2 mutations in Australians with Parkinson's Disease</title></titleInfo><name type="personal"><namePart type="given">Yue</namePart><namePart type="family">Huang</namePart><namePart type="termsOfAddress">PhD</namePart><affiliation>Prince of Wales Medical Research Institute and University of New South Wales, Australia</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Glenda M.</namePart><namePart type="family">Halliday</namePart><namePart type="termsOfAddress">DSc</namePart><affiliation>Prince of Wales Medical Research Institute and University of New South Wales, Australia</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Himesha</namePart><namePart type="family">Vandebona</namePart><namePart type="termsOfAddress">PhD</namePart><affiliation>Departments of Neurology and Neurogenetics, Kolling Institute, Royal North Shore Hospital and University of Sydney, Australia</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">George D.</namePart><namePart type="family">Mellick</namePart><namePart type="termsOfAddress">PhD</namePart><affiliation>Eskitis Institute, Griffith University, Department of Neurology, Royal Brisbane and Womens Hospital, Brisbane, Queensland, Australia</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Frank</namePart><namePart type="family">Mastaglia</namePart><namePart type="termsOfAddress">MBBS, MD</namePart><affiliation>Centre for Neuromuscular and Neurological Disorders, Queen Elizabeth Centre II and University of Western Australia, Australia</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Julia</namePart><namePart type="family">Stevens</namePart><namePart type="termsOfAddress">BSc</namePart><affiliation>Prince of Wales Medical Research Institute and University of New South Wales, Australia</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">John</namePart><namePart type="family">Kwok</namePart><namePart type="termsOfAddress">PhD</namePart><affiliation>Garvan Institute of Medical Research and University of New South Wales, Australia</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Michael</namePart><namePart type="family">Garlepp</namePart><namePart type="termsOfAddress">PhD</namePart><affiliation>Western Australian Biomedical Research Institute, Curtin University of Technology, Australia</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Peter A.</namePart><namePart type="family">Silburn</namePart><namePart type="termsOfAddress">MBBS, PhD</namePart><affiliation>Eskitis Institute, Griffith University, Department of Neurology, Royal Brisbane and Womens Hospital, Brisbane, Queensland, Australia</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Malcolm K.</namePart><namePart type="family">Horne</namePart><namePart type="termsOfAddress">MBBS, MD</namePart><affiliation>Howard Florey Institute, The University of Melbourne, Australia</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Katya</namePart><namePart type="family">Kotschet</namePart><namePart type="termsOfAddress">MBBS</namePart><affiliation>St. Vincent's Hospital, Melbourne, Australia</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Alison</namePart><namePart type="family">Venn</namePart><namePart type="termsOfAddress">MBBS</namePart><affiliation>The Menzies Research Institute, Hobart, Australia</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Dominic B.</namePart><namePart type="family">Rowe</namePart><namePart type="termsOfAddress">MBBS, PhD</namePart><affiliation>Departments of Neurology and Neurogenetics, Kolling Institute, Royal North Shore Hospital and University of Sydney, Australia</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Justin P.</namePart><namePart type="family">Rubio</namePart><namePart type="termsOfAddress">PhD</namePart><affiliation>Howard Florey Institute, The University of Melbourne, Australia</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Carolyn M.</namePart><namePart type="family">Sue</namePart><namePart type="termsOfAddress">MBBS, PhD</namePart><affiliation>Departments of Neurology and Neurogenetics, Kolling Institute, Royal North Shore Hospital and University of Sydney, Australia</affiliation><description>Correspondence: Department of Neurology and Neurogenetics, Kolling Institute, Royal North Shore Hospital and University of Sydney Reserve Rd, St Leonards, NSW, 2065, Australia</description><role><roleTerm type="text">author</roleTerm></role></name><typeOfResource>text</typeOfResource><genre type="article" displayLabel="article"></genre><originInfo><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><place><placeTerm type="text">Hoboken</placeTerm></place><dateIssued encoding="w3cdtf">2007-05-15</dateIssued><dateCaptured encoding="w3cdtf">2006-12-14</dateCaptured><dateValid encoding="w3cdtf">2007-02-23</dateValid><copyrightDate encoding="w3cdtf">2007</copyrightDate></originInfo><language><languageTerm type="code" authority="rfc3066">en</languageTerm><languageTerm type="code" authority="iso639-2b">eng</languageTerm></language><physicalDescription><internetMediaType>text/html</internetMediaType><extent unit="figures">1</extent><extent unit="tables">4</extent><extent unit="references">36</extent><extent unit="words">4995</extent></physicalDescription><abstract 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</abstract><note type="funding">National Health and Medical Research Council of Australia - No. #222727; No. #401537; </note><note type="funding">Australian Brain Foundation</note><note type="funding">CASS foundation</note><note type="funding">Rebecca L. Cooper Foundation</note><note type="funding">Royal Hobart Hospital Research Foundation</note><note type="funding">Neuromuscular Foundation of Western Australia</note><subject lang="en"><genre>Keywords</genre><topic>Parkinson's disease</topic><topic>LRRK2</topic><topic>G2019S</topic><topic>R1441G/C/H</topic><topic>A1442P</topic></subject><relatedItem type="host"><titleInfo><title>Movement Disorders</title></titleInfo><titleInfo type="abbreviated"><title>Mov. Disord.</title></titleInfo><genre type="Journal">journal</genre><subject><genre>article category</genre><topic>Research Article</topic></subject><identifier type="ISSN">0885-3185</identifier><identifier type="eISSN">1531-8257</identifier><identifier type="DOI">10.1002/(ISSN)1531-8257</identifier><identifier type="PublisherID">MDS</identifier><part><date>2007</date><detail type="volume"><caption>vol.</caption><number>22</number></detail><detail type="issue"><caption>no.</caption><number>7</number></detail><extent unit="pages"><start>982</start><end>989</end><total>8</total></extent></part></relatedItem><identifier type="istex">F275D786AAC8E9052AEBD504C587A540724265BF</identifier><identifier type="DOI">10.1002/mds.21477</identifier><identifier type="ArticleID">MDS21477</identifier><accessCondition type="use and reproduction" contentType="copyright">Copyright © 2007 Movement Disorder Society</accessCondition><recordInfo><recordContentSource>WILEY</recordContentSource><recordOrigin>Wiley Subscription Services, Inc., A Wiley Company</recordOrigin></recordInfo></mods></metadata><serie></serie></istex></record>Pour manipuler ce document sous Unix (Dilib)
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