Prevalence and clinical features of common LRRK2 mutations in Australians with Parkinson's disease.
Identifieur interne : 002628 ( PubMed/Checkpoint ); précédent : 002627; suivant : 002629Prevalence and clinical features of common LRRK2 mutations in Australians with Parkinson's disease.
Auteurs : Yue Huang [Australie] ; 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 : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2007.
Descripteurs français
- Wicri :
- geographic : Australie.
English descriptors
- KwdEn :
- Aged, Australia (epidemiology), Cohort Studies, DNA Mutational Analysis, Family Health, Female, Genetic Predisposition to Disease, Glycine (genetics), Humans, Male, Middle Aged, Mutation, Parkinson Disease (epidemiology), Parkinson Disease (genetics), Prevalence, Protein-Serine-Threonine Kinases (genetics), 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.
DOI: 10.1002/mds.21477
PubMed: 17427941
Affiliations:
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Halliday</name></author><author><name sortKey="Vandebona, Himesha" sort="Vandebona, Himesha" uniqKey="Vandebona H" first="Himesha" last="Vandebona">Himesha Vandebona</name></author><author><name sortKey="Mellick, George D" sort="Mellick, George D" uniqKey="Mellick G" first="George D" last="Mellick">George D. Mellick</name></author><author><name sortKey="Mastaglia, Frank" sort="Mastaglia, Frank" uniqKey="Mastaglia F" first="Frank" last="Mastaglia">Frank Mastaglia</name></author><author><name sortKey="Stevens, Julia" sort="Stevens, Julia" uniqKey="Stevens J" first="Julia" last="Stevens">Julia Stevens</name></author><author><name sortKey="Kwok, John" sort="Kwok, John" uniqKey="Kwok J" first="John" last="Kwok">John Kwok</name></author><author><name sortKey="Garlepp, Michael" sort="Garlepp, Michael" uniqKey="Garlepp M" first="Michael" last="Garlepp">Michael Garlepp</name></author><author><name sortKey="Silburn, Peter A" sort="Silburn, Peter A" uniqKey="Silburn P" first="Peter A" last="Silburn">Peter A. Silburn</name></author><author><name sortKey="Horne, Malcolm K" sort="Horne, Malcolm K" uniqKey="Horne M" first="Malcolm K" last="Horne">Malcolm K. Horne</name></author><author><name sortKey="Kotschet, Katya" sort="Kotschet, Katya" uniqKey="Kotschet K" first="Katya" last="Kotschet">Katya Kotschet</name></author><author><name sortKey="Venn, Alison" sort="Venn, Alison" uniqKey="Venn A" first="Alison" last="Venn">Alison Venn</name></author><author><name sortKey="Rowe, Dominic B" sort="Rowe, Dominic B" uniqKey="Rowe D" first="Dominic B" last="Rowe">Dominic B. Rowe</name></author><author><name sortKey="Rubio, Justin P" sort="Rubio, Justin P" uniqKey="Rubio J" first="Justin P" last="Rubio">Justin P. Rubio</name></author><author><name sortKey="Sue, Carolyn M" sort="Sue, Carolyn M" uniqKey="Sue C" first="Carolyn M" last="Sue">Carolyn M. Sue</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2007">2007</date><idno type="doi">10.1002/mds.21477</idno><idno type="RBID">pubmed:17427941</idno><idno type="pmid">17427941</idno><idno type="wicri:Area/PubMed/Corpus">002772</idno><idno type="wicri:Area/PubMed/Curation">002772</idno><idno type="wicri:Area/PubMed/Checkpoint">002628</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Prevalence and clinical features of common LRRK2 mutations in Australians with Parkinson's disease.</title><author><name sortKey="Huang, Yue" sort="Huang, Yue" uniqKey="Huang Y" first="Yue" last="Huang">Yue Huang</name><affiliation wicri:level="1"><nlm:affiliation>Prince of Wales Medical Research Institute, University of New South Wales, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Prince of Wales Medical Research Institute, University of New South Wales</wicri:regionArea><wicri:noRegion>University of New South Wales</wicri:noRegion></affiliation></author><author><name sortKey="Halliday, Glenda M" sort="Halliday, Glenda M" uniqKey="Halliday G" first="Glenda M" last="Halliday">Glenda M. Halliday</name></author><author><name sortKey="Vandebona, Himesha" sort="Vandebona, Himesha" uniqKey="Vandebona H" first="Himesha" last="Vandebona">Himesha Vandebona</name></author><author><name sortKey="Mellick, George D" sort="Mellick, George D" uniqKey="Mellick G" first="George D" last="Mellick">George D. Mellick</name></author><author><name sortKey="Mastaglia, Frank" sort="Mastaglia, Frank" uniqKey="Mastaglia F" first="Frank" last="Mastaglia">Frank Mastaglia</name></author><author><name sortKey="Stevens, Julia" sort="Stevens, Julia" uniqKey="Stevens J" first="Julia" last="Stevens">Julia Stevens</name></author><author><name sortKey="Kwok, John" sort="Kwok, John" uniqKey="Kwok J" first="John" last="Kwok">John Kwok</name></author><author><name sortKey="Garlepp, Michael" sort="Garlepp, Michael" uniqKey="Garlepp M" first="Michael" last="Garlepp">Michael Garlepp</name></author><author><name sortKey="Silburn, Peter A" sort="Silburn, Peter A" uniqKey="Silburn P" first="Peter A" last="Silburn">Peter A. Silburn</name></author><author><name sortKey="Horne, Malcolm K" sort="Horne, Malcolm K" uniqKey="Horne M" first="Malcolm K" last="Horne">Malcolm K. Horne</name></author><author><name sortKey="Kotschet, Katya" sort="Kotschet, Katya" uniqKey="Kotschet K" first="Katya" last="Kotschet">Katya Kotschet</name></author><author><name sortKey="Venn, Alison" sort="Venn, Alison" uniqKey="Venn A" first="Alison" last="Venn">Alison Venn</name></author><author><name sortKey="Rowe, Dominic B" sort="Rowe, Dominic B" uniqKey="Rowe D" first="Dominic B" last="Rowe">Dominic B. Rowe</name></author><author><name sortKey="Rubio, Justin P" sort="Rubio, Justin P" uniqKey="Rubio J" first="Justin P" last="Rubio">Justin P. Rubio</name></author><author><name sortKey="Sue, Carolyn M" sort="Sue, Carolyn M" uniqKey="Sue C" first="Carolyn M" last="Sue">Carolyn M. Sue</name></author></analytic><series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title><idno type="ISSN">0885-3185</idno><imprint><date when="2007" type="published">2007</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Aged</term><term>Australia (epidemiology)</term><term>Cohort Studies</term><term>DNA Mutational Analysis</term><term>Family Health</term><term>Female</term><term>Genetic Predisposition to Disease</term><term>Glycine (genetics)</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Mutation</term><term>Parkinson Disease (epidemiology)</term><term>Parkinson Disease (genetics)</term><term>Prevalence</term><term>Protein-Serine-Threonine Kinases (genetics)</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></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.</div></front></TEI><pubmed><MedlineCitation Owner="NLM" Status="MEDLINE"><PMID Version="1">17427941</PMID><DateCreated><Year>2007</Year><Month>05</Month><Day>31</Day></DateCreated><DateCompleted><Year>2007</Year><Month>08</Month><Day>03</Day></DateCompleted><DateRevised><Year>2013</Year><Month>11</Month><Day>21</Day></DateRevised><Article PubModel="Print"><Journal><ISSN IssnType="Print">0885-3185</ISSN><JournalIssue CitedMedium="Print"><Volume>22</Volume><Issue>7</Issue><PubDate><Year>2007</Year><Month>May</Month><Day>15</Day></PubDate></JournalIssue><Title>Movement disorders : official journal of the Movement Disorder Society</Title><ISOAbbreviation>Mov. Disord.</ISOAbbreviation></Journal><ArticleTitle>Prevalence and clinical features of common LRRK2 mutations in Australians with Parkinson's disease.</ArticleTitle><Pagination><MedlinePgn>982-9</MedlinePgn></Pagination><Abstract><AbstractText>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.</AbstractText><CopyrightInformation>(c) 2007 Movement Disorder Society.</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Huang</LastName><ForeName>Yue</ForeName><Initials>Y</Initials><AffiliationInfo><Affiliation>Prince of Wales Medical Research Institute, University of New South Wales, Australia.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Halliday</LastName><ForeName>Glenda M</ForeName><Initials>GM</Initials></Author><Author ValidYN="Y"><LastName>Vandebona</LastName><ForeName>Himesha</ForeName><Initials>H</Initials></Author><Author ValidYN="Y"><LastName>Mellick</LastName><ForeName>George D</ForeName><Initials>GD</Initials></Author><Author ValidYN="Y"><LastName>Mastaglia</LastName><ForeName>Frank</ForeName><Initials>F</Initials></Author><Author ValidYN="Y"><LastName>Stevens</LastName><ForeName>Julia</ForeName><Initials>J</Initials></Author><Author ValidYN="Y"><LastName>Kwok</LastName><ForeName>John</ForeName><Initials>J</Initials></Author><Author ValidYN="Y"><LastName>Garlepp</LastName><ForeName>Michael</ForeName><Initials>M</Initials></Author><Author ValidYN="Y"><LastName>Silburn</LastName><ForeName>Peter A</ForeName><Initials>PA</Initials></Author><Author ValidYN="Y"><LastName>Horne</LastName><ForeName>Malcolm K</ForeName><Initials>MK</Initials></Author><Author ValidYN="Y"><LastName>Kotschet</LastName><ForeName>Katya</ForeName><Initials>K</Initials></Author><Author ValidYN="Y"><LastName>Venn</LastName><ForeName>Alison</ForeName><Initials>A</Initials></Author><Author ValidYN="Y"><LastName>Rowe</LastName><ForeName>Dominic B</ForeName><Initials>DB</Initials></Author><Author ValidYN="Y"><LastName>Rubio</LastName><ForeName>Justin P</ForeName><Initials>JP</Initials></Author><Author ValidYN="Y"><LastName>Sue</LastName><ForeName>Carolyn M</ForeName><Initials>CM</Initials></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D013485">Research Support, Non-U.S. Gov't</PublicationType></PublicationTypeList></Article><MedlineJournalInfo><Country>United States</Country><MedlineTA>Mov Disord</MedlineTA><NlmUniqueID>8610688</NlmUniqueID><ISSNLinking>0885-3185</ISSNLinking></MedlineJournalInfo><ChemicalList><Chemical><RegistryNumber>452VLY9402</RegistryNumber><NameOfSubstance UI="D012694">Serine</NameOfSubstance></Chemical><Chemical><RegistryNumber>EC 2.7.11.1</RegistryNumber><NameOfSubstance UI="C495280">LRRK2 protein, human</NameOfSubstance></Chemical><Chemical><RegistryNumber>EC 2.7.11.1</RegistryNumber><NameOfSubstance UI="D017346">Protein-Serine-Threonine Kinases</NameOfSubstance></Chemical><Chemical><RegistryNumber>TE7660XO1C</RegistryNumber><NameOfSubstance UI="D005998">Glycine</NameOfSubstance></Chemical></ChemicalList><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName MajorTopicYN="N" UI="D000368">Aged</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" Type="Geographic" UI="D001315">Australia</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000453">epidemiology</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D015331">Cohort Studies</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D004252">DNA Mutational Analysis</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005192">Family Health</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005260">Female</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D020022">Genetic Predisposition to Disease</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005998">Glycine</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D006801">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D008297">Male</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D008875">Middle Aged</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="Y" UI="D009154">Mutation</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D010300">Parkinson Disease</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000453">epidemiology</QualifierName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D015995">Prevalence</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D017346">Protein-Serine-Threonine Kinases</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D012694">Serine</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName></MeshHeading></MeshHeadingList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="pubmed"><Year>2007</Year><Month>4</Month><Day>13</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2007</Year><Month>8</Month><Day>4</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2007</Year><Month>4</Month><Day>13</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="doi">10.1002/mds.21477</ArticleId><ArticleId IdType="pubmed">17427941</ArticleId></ArticleIdList></PubmedData></pubmed><affiliations><list><country><li>Australie</li></country></list><tree><noCountry><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></noCountry><country name="Australie"><noRegion><name sortKey="Huang, Yue" sort="Huang, Yue" uniqKey="Huang Y" first="Yue" last="Huang">Yue Huang</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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