Motor progression of Parkinson's disease with the leucine-rich repeat kinase 2 G2019S mutation.
Identifieur interne : 000485 ( PubMed/Curation ); précédent : 000484; suivant : 000486Motor progression of Parkinson's disease with the leucine-rich repeat kinase 2 G2019S mutation.
Auteurs : Gilad Yahalom [Israël] ; Yael Orlev ; Oren S. Cohen ; Evgenia Kozlova ; Eitan Friedman ; Rivka Inzelberg ; Sharon Hassin-BaerSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2014.
English descriptors
- KwdEn :
- Aged, Disease Progression, Female, Gene Frequency, Genetic Predisposition to Disease (genetics), Genotype, Glycine (genetics), Humans, Jews (genetics), Male, Middle Aged, Mutation (genetics), Parkinson Disease (ethnology), Parkinson Disease (genetics), Parkinson Disease (physiopathology), Protein-Serine-Threonine Kinases (genetics), Retrospective Studies.
- MESH :
- chemical , genetics : Glycine, Protein-Serine-Threonine Kinases.
- ethnology : Parkinson Disease.
- genetics : Genetic Predisposition to Disease, Jews, Mutation, Parkinson Disease.
- physiopathology : Parkinson Disease.
- Aged, Disease Progression, Female, Gene Frequency, Genotype, Humans, Male, Middle Aged, Retrospective Studies.
Abstract
In this retrospective study, we compared motor disease progression in Ashkenazi-Jewish (AJ) Parkinson's disease (PD) patients carrying the LRRK2*G2019S mutation with that of noncarriers.
DOI: 10.1002/mds.25931
PubMed: 24903616
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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Motor progression of Parkinson's disease with the leucine-rich repeat kinase 2 G2019S mutation.</title><author><name sortKey="Yahalom, Gilad" sort="Yahalom, Gilad" uniqKey="Yahalom G" first="Gilad" last="Yahalom">Gilad Yahalom</name><affiliation wicri:level="1"><nlm:affiliation>The Parkinson Disease and Movement Disorders Clinic, Department of Neurology and Sagol Neuroscience Center, Tel Aviv University, Tel Aviv, Israel; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.</nlm:affiliation><country xml:lang="fr">Israël</country><wicri:regionArea>The Parkinson Disease and Movement Disorders Clinic, Department of Neurology and Sagol Neuroscience Center, Tel Aviv University, Tel Aviv, Israel; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv</wicri:regionArea></affiliation></author><author><name sortKey="Orlev, Yael" sort="Orlev, Yael" uniqKey="Orlev Y" first="Yael" last="Orlev">Yael Orlev</name></author><author><name sortKey="Cohen, Oren S" sort="Cohen, Oren S" uniqKey="Cohen O" first="Oren S" last="Cohen">Oren S. Cohen</name></author><author><name sortKey="Kozlova, Evgenia" sort="Kozlova, Evgenia" uniqKey="Kozlova E" first="Evgenia" last="Kozlova">Evgenia Kozlova</name></author><author><name sortKey="Friedman, Eitan" sort="Friedman, Eitan" uniqKey="Friedman E" first="Eitan" last="Friedman">Eitan Friedman</name></author><author><name sortKey="Inzelberg, Rivka" sort="Inzelberg, Rivka" uniqKey="Inzelberg R" first="Rivka" last="Inzelberg">Rivka Inzelberg</name></author><author><name sortKey="Hassin Baer, Sharon" sort="Hassin Baer, Sharon" uniqKey="Hassin Baer S" first="Sharon" last="Hassin-Baer">Sharon Hassin-Baer</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2014">2014</date><idno type="RBID">pubmed:24903616</idno><idno type="pmid">24903616</idno><idno type="doi">10.1002/mds.25931</idno><idno type="wicri:Area/PubMed/Corpus">000485</idno><idno type="wicri:Area/PubMed/Curation">000485</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Motor progression of Parkinson's disease with the leucine-rich repeat kinase 2 G2019S mutation.</title><author><name sortKey="Yahalom, Gilad" sort="Yahalom, Gilad" uniqKey="Yahalom G" first="Gilad" last="Yahalom">Gilad Yahalom</name><affiliation wicri:level="1"><nlm:affiliation>The Parkinson Disease and Movement Disorders Clinic, Department of Neurology and Sagol Neuroscience Center, Tel Aviv University, Tel Aviv, Israel; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.</nlm:affiliation><country xml:lang="fr">Israël</country><wicri:regionArea>The Parkinson Disease and Movement Disorders Clinic, Department of Neurology and Sagol Neuroscience Center, Tel Aviv University, Tel Aviv, Israel; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv</wicri:regionArea></affiliation></author><author><name sortKey="Orlev, Yael" sort="Orlev, Yael" uniqKey="Orlev Y" first="Yael" last="Orlev">Yael Orlev</name></author><author><name sortKey="Cohen, Oren S" sort="Cohen, Oren S" uniqKey="Cohen O" first="Oren S" last="Cohen">Oren S. Cohen</name></author><author><name sortKey="Kozlova, Evgenia" sort="Kozlova, Evgenia" uniqKey="Kozlova E" first="Evgenia" last="Kozlova">Evgenia Kozlova</name></author><author><name sortKey="Friedman, Eitan" sort="Friedman, Eitan" uniqKey="Friedman E" first="Eitan" last="Friedman">Eitan Friedman</name></author><author><name sortKey="Inzelberg, Rivka" sort="Inzelberg, Rivka" uniqKey="Inzelberg R" first="Rivka" last="Inzelberg">Rivka Inzelberg</name></author><author><name sortKey="Hassin Baer, Sharon" sort="Hassin Baer, Sharon" uniqKey="Hassin Baer S" first="Sharon" last="Hassin-Baer">Sharon Hassin-Baer</name></author></analytic><series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title><idno type="eISSN">1531-8257</idno><imprint><date when="2014" type="published">2014</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Aged</term><term>Disease Progression</term><term>Female</term><term>Gene Frequency</term><term>Genetic Predisposition to Disease (genetics)</term><term>Genotype</term><term>Glycine (genetics)</term><term>Humans</term><term>Jews (genetics)</term><term>Male</term><term>Middle Aged</term><term>Mutation (genetics)</term><term>Parkinson Disease (ethnology)</term><term>Parkinson Disease (genetics)</term><term>Parkinson Disease (physiopathology)</term><term>Protein-Serine-Threonine Kinases (genetics)</term><term>Retrospective Studies</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Glycine</term><term>Protein-Serine-Threonine Kinases</term></keywords><keywords scheme="MESH" qualifier="ethnology" xml:lang="en"><term>Parkinson Disease</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Genetic Predisposition to Disease</term><term>Jews</term><term>Mutation</term><term>Parkinson Disease</term></keywords><keywords scheme="MESH" qualifier="physiopathology" xml:lang="en"><term>Parkinson Disease</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Aged</term><term>Disease Progression</term><term>Female</term><term>Gene Frequency</term><term>Genotype</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Retrospective Studies</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">In this retrospective study, we compared motor disease progression in Ashkenazi-Jewish (AJ) Parkinson's disease (PD) patients carrying the LRRK2*G2019S mutation with that of noncarriers.</div></front></TEI><pubmed><MedlineCitation Owner="NLM" Status="MEDLINE"><PMID Version="1">24903616</PMID><DateCreated><Year>2014</Year><Month>07</Month><Day>21</Day></DateCreated><DateCompleted><Year>2015</Year><Month>03</Month><Day>30</Day></DateCompleted><Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1531-8257</ISSN><JournalIssue CitedMedium="Internet"><Volume>29</Volume><Issue>8</Issue><PubDate><Year>2014</Year><Month>Jul</Month></PubDate></JournalIssue><Title>Movement disorders : official journal of the Movement Disorder Society</Title><ISOAbbreviation>Mov. Disord.</ISOAbbreviation></Journal><ArticleTitle>Motor progression of Parkinson's disease with the leucine-rich repeat kinase 2 G2019S mutation.</ArticleTitle><Pagination><MedlinePgn>1057-60</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1002/mds.25931</ELocationID><Abstract><AbstractText Label="INTRODUCTION" NlmCategory="BACKGROUND">In this retrospective study, we compared motor disease progression in Ashkenazi-Jewish (AJ) Parkinson's disease (PD) patients carrying the LRRK2*G2019S mutation with that of noncarriers.</AbstractText><AbstractText Label="METHODS" NlmCategory="METHODS">Consecutive PD patients were recruited between 2004 and 2011. Disease progression of carriers versus noncarriers was compared using survival analysis, where the end-point was the time from PD onset to reaching Hoehn and Yahr stage 3 (HY3).</AbstractText><AbstractText Label="RESULTS" NlmCategory="RESULTS">Overall, 405 AJ PD patients (males = 241[60%]) were genotyped, of whom 60 (males = 30) were LRRK2*G2019S mutation carriers. Time to HY3 did not differ significantly between mutation carriers and noncarriers (hazard ratio = 1.21, 95%CI = 0.83-1.77, P = 0.33). Age at PD onset was younger for carriers than for noncarriers (59.1 ± 9.8 vs. 63.2 ± 12.0 years, respectively; P = 0.005). In both groups, young age at onset was strongly associated with longer time to HY3, (P < 0.001).</AbstractText><AbstractText Label="CONCLUSION" NlmCategory="CONCLUSIONS">The LRRK2*G2019S mutation status has no discernible effect on the rate of motor disease progression in AJ PD patients.</AbstractText><CopyrightInformation>© 2014 International Parkinson and Movement Disorder Society.</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Yahalom</LastName><ForeName>Gilad</ForeName><Initials>G</Initials><AffiliationInfo><Affiliation>The Parkinson Disease and Movement Disorders Clinic, Department of Neurology and Sagol Neuroscience Center, Tel Aviv University, Tel Aviv, Israel; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Orlev</LastName><ForeName>Yael</ForeName><Initials>Y</Initials></Author><Author ValidYN="Y"><LastName>Cohen</LastName><ForeName>Oren S</ForeName><Initials>OS</Initials></Author><Author ValidYN="Y"><LastName>Kozlova</LastName><ForeName>Evgenia</ForeName><Initials>E</Initials></Author><Author ValidYN="Y"><LastName>Friedman</LastName><ForeName>Eitan</ForeName><Initials>E</Initials></Author><Author ValidYN="Y"><LastName>Inzelberg</LastName><ForeName>Rivka</ForeName><Initials>R</Initials></Author><Author ValidYN="Y"><LastName>Hassin-Baer</LastName><ForeName>Sharon</ForeName><Initials>S</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><ArticleDate DateType="Electronic"><Year>2014</Year><Month>06</Month><Day>05</Day></ArticleDate></Article><MedlineJournalInfo><Country>United States</Country><MedlineTA>Mov Disord</MedlineTA><NlmUniqueID>8610688</NlmUniqueID><ISSNLinking>0885-3185</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="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" UI="D018450">Disease Progression</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005260">Female</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005787">Gene Frequency</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D020022">Genetic Predisposition to Disease</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005838">Genotype</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005998">Glycine</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D006801">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D007585">Jews</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D008297">Male</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D008875">Middle Aged</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D009154">Mutation</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D010300">Parkinson Disease</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000208">ethnology</QualifierName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName><QualifierName MajorTopicYN="Y" UI="Q000503">physiopathology</QualifierName></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="D012189">Retrospective Studies</DescriptorName></MeshHeading></MeshHeadingList><KeywordList Owner="NOTNLM"><Keyword MajorTopicYN="N">LRRK2</Keyword><Keyword MajorTopicYN="N">Parkinson's disease</Keyword><Keyword MajorTopicYN="N">disease progression</Keyword><Keyword MajorTopicYN="N">genetic</Keyword></KeywordList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="revised"><Year>2014</Year><Month>5</Month><Day>4</Day></PubMedPubDate><PubMedPubDate PubStatus="accepted"><Year>2014</Year><Month>5</Month><Day>4</Day></PubMedPubDate><PubMedPubDate PubStatus="aheadofprint"><Year>2014</Year><Month>6</Month><Day>5</Day></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2014</Year><Month>6</Month><Day>7</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="pubmed"><Year>2014</Year><Month>6</Month><Day>7</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2015</Year><Month>3</Month><Day>31</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">24903616</ArticleId><ArticleId IdType="doi">10.1002/mds.25931</ArticleId></ArticleIdList></PubmedData></pubmed></record>Pour manipuler ce 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