Clinical expression of LRRK2 G2019S mutations in the elderly.
Identifieur interne : 001634 ( PubMed/Corpus ); précédent : 001633; suivant : 001635Clinical expression of LRRK2 G2019S mutations in the elderly.
Auteurs : Marta San Luciano ; Richard B. Lipton ; Cuiling Wang ; Mindy Katz ; Molly E. Zimmerman ; Amy E. Sanders ; Laurie J. Ozelius ; Susan B. Bressman ; Rachel Saunders-PullmanSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2010.
English descriptors
- KwdEn :
- MESH :
- chemical , genetics : Protein-Serine-Threonine Kinases.
- genetics : Aging, Jews.
- Age Factors, Aged, Aged, 80 and over, Cohort Studies, Female, Gene Frequency, Genetic Predisposition to Disease, Genetic Testing, Humans, Male, Mutation, Neuropsychological Tests, Penetrance.
Abstract
Mutations in the leucine-rich repeat kinase 2 gene (LRRK2, PARK8) are the most commonly identified monogenic etiology of Parkinson disease (PD). Over-represented in the Ashkenazi Jewish population, these mutations are transmitted in an autosomal dominant manner with age-dependent reduced penetrance. The natural history and penetrance of these mutations in the elderly is controversial and inadequately studied. We conducted a nested cohort study in a community-based aging study (the Einstein Aging Study). Six elderly, initially nonmanifesting carriers (NMC) of the LRKK2 G2019S mutation were identified (average age 82.1 ± 7.0, range 72.7-90.8), and five had available longitudinal data. We matched five noncarrier controls to each NMC and followed them for an average of 4.7 years with annual cognitive and motor examinations. PD was identified in one NMC at age 95 and in no control subjects. The remaining carriers did not differ from controls on motor scores at baseline or follow-up. The baseline Unified Parkinson's Disease Rating Scale motor subscore (UPDRS-III) in cases was 6.2 ± 6.9 (range 1-19) and in controls was 4.5 ± 6.6 (1-30), P = 0.6; the mean difference in UPDRS-III slopes over time between cases and controls was 0.1 ± 1.3 and was not statistically significant. Our data, while limited by a small sample size, show that in LRKK2 G2019S mutation carriers, phenoconversion to PD can occur late in life. However, most NMC have motor decline which is indistinguishable from their age mates, suggesting that the larger subset of elderly NMC is not on the motor trajectory to disease.
DOI: 10.1002/mds.23330
PubMed: 20721910
Links to Exploration step
pubmed:20721910Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Clinical expression of LRRK2 G2019S mutations in the elderly.</title><author><name sortKey="San Luciano, Marta" sort="San Luciano, Marta" uniqKey="San Luciano M" first="Marta" last="San Luciano">Marta San Luciano</name><affiliation><nlm:affiliation>Department of Neurology, Beth Israel Medical Center, New York, New York, USA. MSanLuci@chpnet.org</nlm:affiliation></affiliation></author><author><name sortKey="Lipton, Richard B" sort="Lipton, Richard B" uniqKey="Lipton R" first="Richard B" last="Lipton">Richard B. Lipton</name></author><author><name sortKey="Wang, Cuiling" sort="Wang, Cuiling" uniqKey="Wang C" first="Cuiling" last="Wang">Cuiling Wang</name></author><author><name sortKey="Katz, Mindy" sort="Katz, Mindy" uniqKey="Katz M" first="Mindy" last="Katz">Mindy Katz</name></author><author><name sortKey="Zimmerman, Molly E" sort="Zimmerman, Molly E" uniqKey="Zimmerman M" first="Molly E" last="Zimmerman">Molly E. Zimmerman</name></author><author><name sortKey="Sanders, Amy E" sort="Sanders, Amy E" uniqKey="Sanders A" first="Amy E" last="Sanders">Amy E. Sanders</name></author><author><name sortKey="Ozelius, Laurie J" sort="Ozelius, Laurie J" uniqKey="Ozelius L" first="Laurie J" last="Ozelius">Laurie J. Ozelius</name></author><author><name sortKey="Bressman, Susan B" sort="Bressman, Susan B" uniqKey="Bressman S" first="Susan B" last="Bressman">Susan B. Bressman</name></author><author><name sortKey="Saunders Pullman, Rachel" sort="Saunders Pullman, Rachel" uniqKey="Saunders Pullman R" first="Rachel" last="Saunders-Pullman">Rachel Saunders-Pullman</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2010">2010</date><idno type="doi">10.1002/mds.23330</idno><idno type="RBID">pubmed:20721910</idno><idno type="pmid">20721910</idno><idno type="wicri:Area/PubMed/Corpus">001634</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Clinical expression of LRRK2 G2019S mutations in the elderly.</title><author><name sortKey="San Luciano, Marta" sort="San Luciano, Marta" uniqKey="San Luciano M" first="Marta" last="San Luciano">Marta San Luciano</name><affiliation><nlm:affiliation>Department of Neurology, Beth Israel Medical Center, New York, New York, USA. MSanLuci@chpnet.org</nlm:affiliation></affiliation></author><author><name sortKey="Lipton, Richard B" sort="Lipton, Richard B" uniqKey="Lipton R" first="Richard B" last="Lipton">Richard B. Lipton</name></author><author><name sortKey="Wang, Cuiling" sort="Wang, Cuiling" uniqKey="Wang C" first="Cuiling" last="Wang">Cuiling Wang</name></author><author><name sortKey="Katz, Mindy" sort="Katz, Mindy" uniqKey="Katz M" first="Mindy" last="Katz">Mindy Katz</name></author><author><name sortKey="Zimmerman, Molly E" sort="Zimmerman, Molly E" uniqKey="Zimmerman M" first="Molly E" last="Zimmerman">Molly E. Zimmerman</name></author><author><name sortKey="Sanders, Amy E" sort="Sanders, Amy E" uniqKey="Sanders A" first="Amy E" last="Sanders">Amy E. Sanders</name></author><author><name sortKey="Ozelius, Laurie J" sort="Ozelius, Laurie J" uniqKey="Ozelius L" first="Laurie J" last="Ozelius">Laurie J. Ozelius</name></author><author><name sortKey="Bressman, Susan B" sort="Bressman, Susan B" uniqKey="Bressman S" first="Susan B" last="Bressman">Susan B. Bressman</name></author><author><name sortKey="Saunders Pullman, Rachel" sort="Saunders Pullman, Rachel" uniqKey="Saunders Pullman R" first="Rachel" last="Saunders-Pullman">Rachel Saunders-Pullman</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="2010" type="published">2010</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Age Factors</term><term>Aged</term><term>Aged, 80 and over</term><term>Aging (genetics)</term><term>Cohort Studies</term><term>Female</term><term>Gene Frequency</term><term>Genetic Predisposition to Disease</term><term>Genetic Testing</term><term>Humans</term><term>Jews (genetics)</term><term>Male</term><term>Mutation</term><term>Neuropsychological Tests</term><term>Penetrance</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" qualifier="genetics" xml:lang="en"><term>Aging</term><term>Jews</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Age Factors</term><term>Aged</term><term>Aged, 80 and over</term><term>Cohort Studies</term><term>Female</term><term>Gene Frequency</term><term>Genetic Predisposition to Disease</term><term>Genetic Testing</term><term>Humans</term><term>Male</term><term>Mutation</term><term>Neuropsychological Tests</term><term>Penetrance</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Mutations in the leucine-rich repeat kinase 2 gene (LRRK2, PARK8) are the most commonly identified monogenic etiology of Parkinson disease (PD). Over-represented in the Ashkenazi Jewish population, these mutations are transmitted in an autosomal dominant manner with age-dependent reduced penetrance. The natural history and penetrance of these mutations in the elderly is controversial and inadequately studied. We conducted a nested cohort study in a community-based aging study (the Einstein Aging Study). Six elderly, initially nonmanifesting carriers (NMC) of the LRKK2 G2019S mutation were identified (average age 82.1 ± 7.0, range 72.7-90.8), and five had available longitudinal data. We matched five noncarrier controls to each NMC and followed them for an average of 4.7 years with annual cognitive and motor examinations. PD was identified in one NMC at age 95 and in no control subjects. The remaining carriers did not differ from controls on motor scores at baseline or follow-up. The baseline Unified Parkinson's Disease Rating Scale motor subscore (UPDRS-III) in cases was 6.2 ± 6.9 (range 1-19) and in controls was 4.5 ± 6.6 (1-30), P = 0.6; the mean difference in UPDRS-III slopes over time between cases and controls was 0.1 ± 1.3 and was not statistically significant. Our data, while limited by a small sample size, show that in LRKK2 G2019S mutation carriers, phenoconversion to PD can occur late in life. However, most NMC have motor decline which is indistinguishable from their age mates, suggesting that the larger subset of elderly NMC is not on the motor trajectory to disease.</div></front></TEI><pubmed><MedlineCitation Owner="NLM" Status="MEDLINE"><PMID Version="1">20721910</PMID><DateCreated><Year>2010</Year><Month>11</Month><Day>11</Day></DateCreated><DateCompleted><Year>2011</Year><Month>02</Month><Day>25</Day></DateCompleted><DateRevised><Year>2014</Year><Month>09</Month><Day>08</Day></DateRevised><Article PubModel="Print"><Journal><ISSN IssnType="Electronic">1531-8257</ISSN><JournalIssue CitedMedium="Internet"><Volume>25</Volume><Issue>15</Issue><PubDate><Year>2010</Year><Month>Nov</Month><Day>15</Day></PubDate></JournalIssue><Title>Movement disorders : official journal of the Movement Disorder Society</Title><ISOAbbreviation>Mov. Disord.</ISOAbbreviation></Journal><ArticleTitle>Clinical expression of LRRK2 G2019S mutations in the elderly.</ArticleTitle><Pagination><MedlinePgn>2571-6</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1002/mds.23330</ELocationID><Abstract><AbstractText>Mutations in the leucine-rich repeat kinase 2 gene (LRRK2, PARK8) are the most commonly identified monogenic etiology of Parkinson disease (PD). Over-represented in the Ashkenazi Jewish population, these mutations are transmitted in an autosomal dominant manner with age-dependent reduced penetrance. The natural history and penetrance of these mutations in the elderly is controversial and inadequately studied. We conducted a nested cohort study in a community-based aging study (the Einstein Aging Study). Six elderly, initially nonmanifesting carriers (NMC) of the LRKK2 G2019S mutation were identified (average age 82.1 ± 7.0, range 72.7-90.8), and five had available longitudinal data. We matched five noncarrier controls to each NMC and followed them for an average of 4.7 years with annual cognitive and motor examinations. PD was identified in one NMC at age 95 and in no control subjects. The remaining carriers did not differ from controls on motor scores at baseline or follow-up. The baseline Unified Parkinson's Disease Rating Scale motor subscore (UPDRS-III) in cases was 6.2 ± 6.9 (range 1-19) and in controls was 4.5 ± 6.6 (1-30), P = 0.6; the mean difference in UPDRS-III slopes over time between cases and controls was 0.1 ± 1.3 and was not statistically significant. Our data, while limited by a small sample size, show that in LRKK2 G2019S mutation carriers, phenoconversion to PD can occur late in life. However, most NMC have motor decline which is indistinguishable from their age mates, suggesting that the larger subset of elderly NMC is not on the motor trajectory to disease.</AbstractText><CopyrightInformation>© 2010 Movement Disorder Society.</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>San Luciano</LastName><ForeName>Marta</ForeName><Initials>M</Initials><AffiliationInfo><Affiliation>Department of Neurology, Beth Israel Medical Center, New York, New York, USA. MSanLuci@chpnet.org</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Lipton</LastName><ForeName>Richard B</ForeName><Initials>RB</Initials></Author><Author ValidYN="Y"><LastName>Wang</LastName><ForeName>Cuiling</ForeName><Initials>C</Initials></Author><Author ValidYN="Y"><LastName>Katz</LastName><ForeName>Mindy</ForeName><Initials>M</Initials></Author><Author ValidYN="Y"><LastName>Zimmerman</LastName><ForeName>Molly E</ForeName><Initials>ME</Initials></Author><Author ValidYN="Y"><LastName>Sanders</LastName><ForeName>Amy E</ForeName><Initials>AE</Initials></Author><Author ValidYN="Y"><LastName>Ozelius</LastName><ForeName>Laurie J</ForeName><Initials>LJ</Initials></Author><Author ValidYN="Y"><LastName>Bressman</LastName><ForeName>Susan B</ForeName><Initials>SB</Initials></Author><Author ValidYN="Y"><LastName>Saunders-Pullman</LastName><ForeName>Rachel</ForeName><Initials>R</Initials></Author></AuthorList><Language>eng</Language><GrantList CompleteYN="Y"><Grant><GrantID>AG03949</GrantID><Acronym>AG</Acronym><Agency>NIA NIH HHS</Agency><Country>United States</Country></Grant><Grant><GrantID>K23 NS047256</GrantID><Acronym>NS</Acronym><Agency>NINDS NIH HHS</Agency><Country>United States</Country></Grant><Grant><GrantID>K23 NS047256-05</GrantID><Acronym>NS</Acronym><Agency>NINDS NIH HHS</Agency><Country>United States</Country></Grant><Grant><GrantID>K23NS047256</GrantID><Acronym>NS</Acronym><Agency>NINDS NIH HHS</Agency><Country>United States</Country></Grant><Grant><GrantID>KL2 RR025749</GrantID><Acronym>RR</Acronym><Agency>NCRR NIH HHS</Agency><Country>United States</Country></Grant><Grant><GrantID>L30 AG032889</GrantID><Acronym>AG</Acronym><Agency>NIA NIH HHS</Agency><Country>United States</Country></Grant><Grant><GrantID>P01 AG003949</GrantID><Acronym>AG</Acronym><Agency>NIA NIH HHS</Agency><Country>United States</Country></Grant><Grant><GrantID>P01 AG003949-20</GrantID><Acronym>AG</Acronym><Agency>NIA NIH HHS</Agency><Country>United States</Country></Grant><Grant><GrantID>TL1 RR025748</GrantID><Acronym>RR</Acronym><Agency>NCRR NIH HHS</Agency><Country>United States</Country></Grant><Grant><GrantID>UL1 RR025750</GrantID><Acronym>RR</Acronym><Agency>NCRR NIH HHS</Agency><Country>United States</Country></Grant></GrantList><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D052061">Research Support, N.I.H., Extramural</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>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></ChemicalList><CitationSubset>IM</CitationSubset><CommentsCorrectionsList><CommentsCorrections RefType="Cites"><RefSource>Neurology. 2000;54(11 Suppl 5):S21-3</RefSource><PMID Version="1">10854357</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Parkinsonism Relat Disord. 2008;14(1):77-80</RefSource><PMID Version="1">17433753</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>N Engl J Med. 2002 Nov 28;347(22):1761-8</RefSource><PMID Version="1">12456852</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>J Am Geriatr Soc. 2003 Oct;51(10):1382-90</RefSource><PMID Version="1">14511157</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Br J Psychiatry. 1982 Jun;140:566-72</RefSource><PMID Version="1">7104545</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Lancet Neurol. 2008 Jul;7(7):583-90</RefSource><PMID Version="1">18539534</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Lancet Neurol. 2008 Jul;7(7):591-4</RefSource><PMID Version="1">18539535</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Neurology. 2008 Nov 4;71(19):1550-2</RefSource><PMID Version="1">18981379</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Parkinsonism Relat Disord. 2009 Mar;15(3):242-4</RefSource><PMID Version="1">18621566</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Neurogenetics. 2009 Oct;10(4):355-8</RefSource><PMID Version="1">19283415</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>J Neural Transm. 2009 Nov;116(11):1473-82</RefSource><PMID Version="1">19756366</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Neurogenetics. 2010 Feb;11(1):121-5</RefSource><PMID Version="1">19458969</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Parkinsonism Relat Disord. 2010 May;16(4):237-42</RefSource><PMID Version="1">19945904</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>J Neurol Neurosurg Psychiatry. 1992 Mar;55(3):181-4</RefSource><PMID Version="1">1564476</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Neurology. 1993 Nov;43(11):2412-4</RefSource><PMID Version="1">8232972</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Neurology. 1995 Dec;45(12):2143-6</RefSource><PMID Version="1">8848182</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>N Engl J Med. 1996 Jan 11;334(2):71-6</RefSource><PMID Version="1">8531961</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>J Clin Psychol. 1996 Nov;52(6):651-61</RefSource><PMID Version="1">8912108</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Neurology. 1997 May;48(5):1277-81</RefSource><PMID Version="1">9153457</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Neuron. 2004 Nov 18;44(4):595-600</RefSource><PMID Version="1">15541308</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Lancet. 2005 Jan 29-Feb 4;365(9457):415-6</RefSource><PMID Version="1">15680457</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Ann Neurol. 2005 Nov;58(5):784-7</RefSource><PMID Version="1">16240353</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>N Engl J Med. 2006 Jan 26;354(4):422-3</RefSource><PMID Version="1">16436781</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>N Engl J Med. 2006 Jan 26;354(4):424-5</RefSource><PMID Version="1">16436782</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Ann Neurol. 2006 Feb;59(2):388-93</RefSource><PMID Version="1">16437559</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Ann Neurol. 2006 Feb;59(2):315-22</RefSource><PMID Version="1">16437584</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Neurosci Lett. 2006 Jul 10;402(1-2):92-6</RefSource><PMID Version="1">16632201</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Am J Hum Genet. 2006 Oct;79(4):752-8</RefSource><PMID Version="1">16960813</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Arch Neurol. 2006 Sep;63(9):1242-6</RefSource><PMID Version="1">16966501</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Parkinsonism Relat Disord. 2006 Oct;12(7):410-9</RefSource><PMID Version="1">16750929</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Neurology. 2006 Nov 28;67(10):1786-91</RefSource><PMID Version="1">17050822</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Neurodegener Dis. 2007;4(2-3):195-8</RefSource><PMID Version="1">17596714</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Parkinsonism Relat Disord. 2007 Sep;13 Suppl:S2-7</RefSource><PMID Version="1">17681839</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Neurology. 2007 Oct 16;69(16):1595-602</RefSource><PMID Version="1">17938369</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Ann Neurol. 2002 Mar;51(3):296-301</RefSource><PMID Version="1">11891824</PMID></CommentsCorrections></CommentsCorrectionsList><MeshHeadingList><MeshHeading><DescriptorName MajorTopicYN="N" UI="D000367">Age Factors</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D000368">Aged</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D000369">Aged, 80 and over</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D000375">Aging</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D015331">Cohort Studies</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></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005820">Genetic Testing</DescriptorName></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="Y" UI="D009154">Mutation</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D009483">Neuropsychological Tests</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D019683">Penetrance</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D017346">Protein-Serine-Threonine Kinases</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading></MeshHeadingList><OtherID Source="NLM">NIHMS213981</OtherID><OtherID Source="NLM">PMC2978804</OtherID></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="entrez"><Year>2010</Year><Month>8</Month><Day>20</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="pubmed"><Year>2010</Year><Month>8</Month><Day>20</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2011</Year><Month>2</Month><Day>26</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="doi">10.1002/mds.23330</ArticleId><ArticleId IdType="pubmed">20721910</ArticleId><ArticleId IdType="pmc">PMC2978804</ArticleId><ArticleId IdType="mid">NIHMS213981</ArticleId></ArticleIdList></PubmedData></pubmed></record>Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Santé/explor/MovDisordV3/Data/PubMed/Corpus
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 001634 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/PubMed/Corpus/biblio.hfd -nk 001634 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien
|wiki= Wicri/Santé
|area= MovDisordV3
|flux= PubMed
|étape= Corpus
|type= RBID
|clé= pubmed:20721910
|texte= Clinical expression of LRRK2 G2019S mutations in the elderly.
}}
Pour générer des pages wiki
HfdIndexSelect -h $EXPLOR_AREA/Data/PubMed/Corpus/RBID.i -Sk "pubmed:20721910" \
| HfdSelect -Kh $EXPLOR_AREA/Data/PubMed/Corpus/biblio.hfd \
| NlmPubMed2Wicri -a MovDisordV3
| This area was generated with Dilib version V0.6.23. |  |