LRRK2 screening in a Canadian Parkinson's disease cohort.
Identifieur interne : 001037 ( PubMed/Checkpoint ); précédent : 001036; suivant : 001038LRRK2 screening in a Canadian Parkinson's disease cohort.
Auteurs : D A Grimes [Canada] ; L. Racacho ; F. Han ; M. Panisset ; D E BulmanSource :
- The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques [ 0317-1671 ] ; 2007.
English descriptors
- KwdEn :
- Adult, Age of Onset, Aged, Aged, 80 and over, Base Sequence (genetics), Canada (epidemiology), Chromatography, High Pressure Liquid, Cohort Studies, DNA Mutational Analysis (standards), DNA Mutational Analysis (trends), Exons (genetics), Female, Genetic Predisposition to Disease (genetics), Genetic Testing (standards), Genetic Testing (trends), Genotype, Humans, Introns (genetics), Leucine-Rich Repeat Serine-Threonine Protein Kinase-2, Male, Middle Aged, Mutation (genetics), Parkinson Disease (diagnosis), Parkinson Disease (epidemiology), Parkinson Disease (genetics), Predictive Value of Tests, Protein-Serine-Threonine Kinases (genetics).
- MESH :
- chemical , genetics : Protein-Serine-Threonine Kinases.
- chemical : Leucine-Rich Repeat Serine-Threonine Protein Kinase-2.
- diagnosis : Parkinson Disease.
- epidemiology : Canada, Parkinson Disease.
- genetics : Base Sequence, Exons, Genetic Predisposition to Disease, Introns, Mutation, Parkinson Disease.
- standards : DNA Mutational Analysis, Genetic Testing.
- trends : DNA Mutational Analysis, Genetic Testing.
- Adult, Age of Onset, Aged, Aged, 80 and over, Chromatography, High Pressure Liquid, Cohort Studies, Female, Genotype, Humans, Male, Middle Aged, Predictive Value of Tests.
Abstract
Mutations in the leucine-rich repeat kinase 2 gene (LRRK2) have become the most common known cause for developing Parkinson's disease. The frequency of mutations described in the literature varies widely depending on the population studied with most reports focusing only on screening for the most common G2019S mutation in exon 41.
PubMed: 17803033
Affiliations:
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Han</name></author><author><name sortKey="Panisset, M" sort="Panisset, M" uniqKey="Panisset M" first="M" last="Panisset">M. Panisset</name></author><author><name sortKey="Bulman, D E" sort="Bulman, D E" uniqKey="Bulman D" first="D E" last="Bulman">D E Bulman</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2007">2007</date><idno type="RBID">pubmed:17803033</idno><idno type="pmid">17803033</idno><idno type="wicri:Area/PubMed/Corpus">001053</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">001053</idno><idno type="wicri:Area/PubMed/Curation">001053</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Curation">001053</idno><idno type="wicri:Area/PubMed/Checkpoint">001053</idno><idno type="wicri:explorRef" wicri:stream="Checkpoint" wicri:step="PubMed">001053</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">LRRK2 screening in a Canadian Parkinson's disease cohort.</title><author><name sortKey="Grimes, D A" sort="Grimes, D A" uniqKey="Grimes D" first="D A" last="Grimes">D A Grimes</name><affiliation wicri:level="1"><nlm:affiliation>Department of Medicine, Division of Neurology, The Ottawa Hospital, Ottawa Health Research institute, University of Ottawa, ON, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Department of Medicine, Division of Neurology, The Ottawa Hospital, Ottawa Health Research institute, University of Ottawa, ON</wicri:regionArea><wicri:noRegion>ON</wicri:noRegion></affiliation></author><author><name sortKey="Racacho, L" sort="Racacho, L" uniqKey="Racacho L" first="L" last="Racacho">L. Racacho</name></author><author><name sortKey="Han, F" sort="Han, F" uniqKey="Han F" first="F" last="Han">F. Han</name></author><author><name sortKey="Panisset, M" sort="Panisset, M" uniqKey="Panisset M" first="M" last="Panisset">M. Panisset</name></author><author><name sortKey="Bulman, D E" sort="Bulman, D E" uniqKey="Bulman D" first="D E" last="Bulman">D E Bulman</name></author></analytic><series><title level="j">The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques</title><idno type="ISSN">0317-1671</idno><imprint><date when="2007" type="published">2007</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Age of Onset</term><term>Aged</term><term>Aged, 80 and over</term><term>Base Sequence (genetics)</term><term>Canada (epidemiology)</term><term>Chromatography, High Pressure Liquid</term><term>Cohort Studies</term><term>DNA Mutational Analysis (standards)</term><term>DNA Mutational Analysis (trends)</term><term>Exons (genetics)</term><term>Female</term><term>Genetic Predisposition to Disease (genetics)</term><term>Genetic Testing (standards)</term><term>Genetic Testing (trends)</term><term>Genotype</term><term>Humans</term><term>Introns (genetics)</term><term>Leucine-Rich Repeat Serine-Threonine Protein Kinase-2</term><term>Male</term><term>Middle Aged</term><term>Mutation (genetics)</term><term>Parkinson Disease (diagnosis)</term><term>Parkinson Disease (epidemiology)</term><term>Parkinson Disease (genetics)</term><term>Predictive Value of Tests</term><term>Protein-Serine-Threonine Kinases (genetics)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Protein-Serine-Threonine Kinases</term></keywords><keywords scheme="MESH" type="chemical" xml:lang="en"><term>Leucine-Rich Repeat Serine-Threonine Protein Kinase-2</term></keywords><keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Parkinson Disease</term></keywords><keywords scheme="MESH" qualifier="epidemiology" xml:lang="en"><term>Canada</term><term>Parkinson Disease</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Base Sequence</term><term>Exons</term><term>Genetic Predisposition to Disease</term><term>Introns</term><term>Mutation</term><term>Parkinson Disease</term></keywords><keywords scheme="MESH" qualifier="standards" xml:lang="en"><term>DNA Mutational Analysis</term><term>Genetic Testing</term></keywords><keywords scheme="MESH" qualifier="trends" xml:lang="en"><term>DNA Mutational Analysis</term><term>Genetic Testing</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Age of Onset</term><term>Aged</term><term>Aged, 80 and over</term><term>Chromatography, High Pressure Liquid</term><term>Cohort Studies</term><term>Female</term><term>Genotype</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Predictive Value of Tests</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Mutations in the leucine-rich repeat kinase 2 gene (LRRK2) have become the most common known cause for developing Parkinson's disease. The frequency of mutations described in the literature varies widely depending on the population studied with most reports focusing only on screening for the most common G2019S mutation in exon 41.</div></front></TEI><pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">17803033</PMID><DateCreated><Year>2007</Year><Month>09</Month><Day>06</Day></DateCreated><DateCompleted><Year>2007</Year><Month>10</Month><Day>23</Day></DateCompleted><DateRevised><Year>2016</Year><Month>11</Month><Day>24</Day></DateRevised><Article PubModel="Print"><Journal><ISSN IssnType="Print">0317-1671</ISSN><JournalIssue CitedMedium="Print"><Volume>34</Volume><Issue>3</Issue><PubDate><Year>2007</Year><Month>Aug</Month></PubDate></JournalIssue><Title>The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques</Title><ISOAbbreviation>Can J Neurol Sci</ISOAbbreviation></Journal><ArticleTitle>LRRK2 screening in a Canadian Parkinson's disease cohort.</ArticleTitle><Pagination><MedlinePgn>336-8</MedlinePgn></Pagination><Abstract><AbstractText Label="BACKGROUND" NlmCategory="BACKGROUND">Mutations in the leucine-rich repeat kinase 2 gene (LRRK2) have become the most common known cause for developing Parkinson's disease. The frequency of mutations described in the literature varies widely depending on the population studied with most reports focusing only on screening for the most common G2019S mutation in exon 41.</AbstractText><AbstractText Label="METHODS" NlmCategory="METHODS">In this study seven exons (19, 24, 25, 31, 35, 38, and 41) in LRRK2 where mutations have been reported were screened in 230 unselected Parkinson's disease patients using denaturing high-performance liquid chromatography.</AbstractText><AbstractText Label="RESULTS" NlmCategory="RESULTS">The sequencing of samples with heteroduplex profiles revealed five novel and two known intronic sequence variants. In our cohort, we were unable to detect any of the known mutations in these exons or identify novel mutations within the LRRK2 gene.</AbstractText><AbstractText Label="CONCLUSIONS" NlmCategory="CONCLUSIONS">Therefore, despite the availability of diagnostic LRRK2 genetic testing it is unlikely to yield a positive result in this population.</AbstractText></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Grimes</LastName><ForeName>D A</ForeName><Initials>DA</Initials><AffiliationInfo><Affiliation>Department of Medicine, Division of Neurology, The Ottawa Hospital, Ottawa Health Research institute, University of Ottawa, ON, Canada.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Racacho</LastName><ForeName>L</ForeName><Initials>L</Initials></Author><Author ValidYN="Y"><LastName>Han</LastName><ForeName>F</ForeName><Initials>F</Initials></Author><Author ValidYN="Y"><LastName>Panisset</LastName><ForeName>M</ForeName><Initials>M</Initials></Author><Author ValidYN="Y"><LastName>Bulman</LastName><ForeName>D E</ForeName><Initials>DE</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>England</Country><MedlineTA>Can J Neurol Sci</MedlineTA><NlmUniqueID>0415227</NlmUniqueID><ISSNLinking>0317-1671</ISSNLinking></MedlineJournalInfo><ChemicalList><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="D000071158">Leucine-Rich Repeat Serine-Threonine Protein Kinase-2</NameOfSubstance></Chemical><Chemical><RegistryNumber>EC 2.7.11.1</RegistryNumber><NameOfSubstance UI="D017346">Protein-Serine-Threonine Kinases</NameOfSubstance></Chemical></ChemicalList><CitationSubset>IM</CitationSubset><CommentsCorrectionsList><CommentsCorrections RefType="CommentIn"><RefSource>Can J Neurol Sci. 2007 Aug;34(3):266-7</RefSource><PMID Version="1">17803021</PMID></CommentsCorrections></CommentsCorrectionsList><MeshHeadingList><MeshHeading><DescriptorName UI="D000328" MajorTopicYN="N">Adult</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D017668" MajorTopicYN="N">Age of Onset</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D000368" MajorTopicYN="N">Aged</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D000369" MajorTopicYN="N">Aged, 80 and over</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D001483" MajorTopicYN="N">Base Sequence</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D002170" MajorTopicYN="N">Canada</DescriptorName><QualifierName UI="Q000453" MajorTopicYN="N">epidemiology</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D002851" MajorTopicYN="N">Chromatography, High Pressure Liquid</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D015331" MajorTopicYN="N">Cohort Studies</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D004252" MajorTopicYN="N">DNA Mutational Analysis</DescriptorName><QualifierName UI="Q000592" MajorTopicYN="N">standards</QualifierName><QualifierName UI="Q000639" MajorTopicYN="N">trends</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D005091" MajorTopicYN="N">Exons</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D005260" MajorTopicYN="N">Female</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D020022" MajorTopicYN="N">Genetic Predisposition to Disease</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D005820" MajorTopicYN="N">Genetic Testing</DescriptorName><QualifierName UI="Q000592" MajorTopicYN="Y">standards</QualifierName><QualifierName UI="Q000639" MajorTopicYN="N">trends</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D005838" MajorTopicYN="N">Genotype</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D006801" MajorTopicYN="N">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D007438" MajorTopicYN="N">Introns</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D000071158" MajorTopicYN="N">Leucine-Rich Repeat Serine-Threonine Protein Kinase-2</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D008297" MajorTopicYN="N">Male</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D008875" MajorTopicYN="N">Middle Aged</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D009154" MajorTopicYN="N">Mutation</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D010300" MajorTopicYN="N">Parkinson Disease</DescriptorName><QualifierName UI="Q000175" MajorTopicYN="N">diagnosis</QualifierName><QualifierName UI="Q000453" MajorTopicYN="N">epidemiology</QualifierName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D011237" MajorTopicYN="N">Predictive Value of Tests</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D017346" MajorTopicYN="N">Protein-Serine-Threonine Kinases</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading></MeshHeadingList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="pubmed"><Year>2007</Year><Month>9</Month><Day>7</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2007</Year><Month>10</Month><Day>24</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2007</Year><Month>9</Month><Day>7</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">17803033</ArticleId></ArticleIdList></PubmedData></pubmed><affiliations><list><country><li>Canada</li></country></list><tree><noCountry><name sortKey="Bulman, D E" sort="Bulman, D E" uniqKey="Bulman D" first="D E" last="Bulman">D E Bulman</name><name sortKey="Han, F" sort="Han, F" uniqKey="Han F" first="F" last="Han">F. Han</name><name sortKey="Panisset, M" sort="Panisset, M" uniqKey="Panisset M" first="M" last="Panisset">M. Panisset</name><name sortKey="Racacho, L" sort="Racacho, L" uniqKey="Racacho L" first="L" last="Racacho">L. Racacho</name></noCountry><country name="Canada"><noRegion><name sortKey="Grimes, D A" sort="Grimes, D A" uniqKey="Grimes D" first="D A" last="Grimes">D A Grimes</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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