LRRK2 exon 41 mutations in sporadic Parkinson disease in Europeans.
Identifieur interne : 000E00 ( PubMed/Corpus ); précédent : 000D99; suivant : 000E01LRRK2 exon 41 mutations in sporadic Parkinson disease in Europeans.
Auteurs : Suzanne Lesage ; Sabine Janin ; Ebba Lohmann ; Anne-Louise Leutenegger ; Laurence Leclere ; François Viallet ; Pierre Pollak ; Franck Durif ; Stéphane Thobois ; Valérie Layet ; Marie Vidailhet ; Yves Agid ; Alexandra Dürr ; Alexis Brice ; Anne-Marie Bonnet ; Michel Borg ; Emmanuel Broussolle ; Philippe Damier ; Alain Destée ; Maria Martinez ; Christiane Penet ; Olivier Rasco ; François Tison ; Christine Tranchan ; Marc VérinSource :
- Archives of neurology [ 0003-9942 ] ; 2007.
English descriptors
- KwdEn :
- Adolescent, Adult, Aged, Aged, 80 and over, DNA Mutational Analysis (methods), Europe, Exons (genetics), Female, Histidine (genetics), Humans, Leucine-Rich Repeat Serine-Threonine Protein Kinase-2, Male, Middle Aged, Mutation, Parkinson Disease (genetics), Protein-Serine-Threonine Kinases (genetics), Serine (genetics), Threonine (genetics), Tyrosine (genetics).
- MESH :
- chemical , genetics : Histidine, Protein-Serine-Threonine Kinases, Serine, Threonine, Tyrosine.
- genetics : Exons, Parkinson Disease.
- methods : DNA Mutational Analysis.
- Adolescent, Adult, Aged, Aged, 80 and over, Europe, Female, Humans, Leucine-Rich Repeat Serine-Threonine Protein Kinase-2, Male, Middle Aged, Mutation.
Abstract
Mutations in leucine-rich repeat kinase 2 gene (LRRK2), particularly the G2019S mutation in exon 41, have been detected in familial and sporadic Parkinson disease (PD) cases.
DOI: 10.1001/archneur.64.3.425
PubMed: 17353388
Links to Exploration step
pubmed:17353388Le document en format XML
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last="Damier">Philippe Damier</name></author><author><name sortKey="Destee, Alain" sort="Destee, Alain" uniqKey="Destee A" first="Alain" last="Destée">Alain Destée</name></author><author><name sortKey="Martinez, Maria" sort="Martinez, Maria" uniqKey="Martinez M" first="Maria" last="Martinez">Maria Martinez</name></author><author><name sortKey="Penet, Christiane" sort="Penet, Christiane" uniqKey="Penet C" first="Christiane" last="Penet">Christiane Penet</name></author><author><name sortKey="Rasco, Olivier" sort="Rasco, Olivier" uniqKey="Rasco O" first="Olivier" last="Rasco">Olivier Rasco</name></author><author><name sortKey="Tison, Francois" sort="Tison, Francois" uniqKey="Tison F" first="François" last="Tison">François Tison</name></author><author><name sortKey="Tranchan, Christine" sort="Tranchan, Christine" uniqKey="Tranchan C" first="Christine" last="Tranchan">Christine Tranchan</name></author><author><name sortKey="Verin, Marc" sort="Verin, Marc" uniqKey="Verin M" first="Marc" last="Vérin">Marc Vérin</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2007">2007</date><idno type="RBID">pubmed:17353388</idno><idno type="pmid">17353388</idno><idno type="doi">10.1001/archneur.64.3.425</idno><idno type="wicri:Area/PubMed/Corpus">000E00</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">000E00</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">LRRK2 exon 41 mutations in sporadic Parkinson disease in Europeans.</title><author><name sortKey="Lesage, Suzanne" sort="Lesage, Suzanne" uniqKey="Lesage S" first="Suzanne" last="Lesage">Suzanne Lesage</name><affiliation><nlm:affiliation>Institut National de la Santé et de la Recherche Médicale Unité 679, Neurology and Experimental Therapeutics, and Faculté de Médecine, Université Pierre et Marie Curie, 75651 Paris CEDEX 13, France.</nlm:affiliation></affiliation></author><author><name sortKey="Janin, Sabine" sort="Janin, Sabine" uniqKey="Janin S" first="Sabine" last="Janin">Sabine Janin</name></author><author><name sortKey="Lohmann, Ebba" sort="Lohmann, Ebba" uniqKey="Lohmann E" first="Ebba" last="Lohmann">Ebba Lohmann</name></author><author><name sortKey="Leutenegger, Anne Louise" sort="Leutenegger, Anne Louise" uniqKey="Leutenegger A" first="Anne-Louise" last="Leutenegger">Anne-Louise Leutenegger</name></author><author><name sortKey="Leclere, Laurence" sort="Leclere, Laurence" uniqKey="Leclere L" first="Laurence" last="Leclere">Laurence Leclere</name></author><author><name sortKey="Viallet, Francois" sort="Viallet, Francois" uniqKey="Viallet F" first="François" last="Viallet">François Viallet</name></author><author><name sortKey="Pollak, Pierre" sort="Pollak, Pierre" uniqKey="Pollak P" first="Pierre" last="Pollak">Pierre Pollak</name></author><author><name sortKey="Durif, Franck" sort="Durif, Franck" uniqKey="Durif F" first="Franck" last="Durif">Franck Durif</name></author><author><name sortKey="Thobois, Stephane" sort="Thobois, Stephane" uniqKey="Thobois S" first="Stéphane" last="Thobois">Stéphane Thobois</name></author><author><name sortKey="Layet, Valerie" sort="Layet, Valerie" uniqKey="Layet V" first="Valérie" last="Layet">Valérie Layet</name></author><author><name sortKey="Vidailhet, Marie" sort="Vidailhet, Marie" uniqKey="Vidailhet M" first="Marie" last="Vidailhet">Marie Vidailhet</name></author><author><name sortKey="Agid, Yves" sort="Agid, Yves" uniqKey="Agid Y" first="Yves" last="Agid">Yves Agid</name></author><author><name sortKey="Durr, Alexandra" sort="Durr, Alexandra" uniqKey="Durr A" first="Alexandra" last="Dürr">Alexandra Dürr</name></author><author><name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name></author><author><name sortKey="Bonnet, Anne Marie" sort="Bonnet, Anne Marie" uniqKey="Bonnet A" first="Anne-Marie" last="Bonnet">Anne-Marie Bonnet</name></author><author><name sortKey="Borg, Michel" sort="Borg, Michel" uniqKey="Borg M" first="Michel" last="Borg">Michel Borg</name></author><author><name sortKey="Broussolle, Emmanuel" sort="Broussolle, Emmanuel" uniqKey="Broussolle E" first="Emmanuel" last="Broussolle">Emmanuel Broussolle</name></author><author><name sortKey="Damier, Philippe" sort="Damier, Philippe" uniqKey="Damier P" first="Philippe" last="Damier">Philippe Damier</name></author><author><name sortKey="Destee, Alain" sort="Destee, Alain" uniqKey="Destee A" first="Alain" last="Destée">Alain Destée</name></author><author><name sortKey="Martinez, Maria" sort="Martinez, Maria" uniqKey="Martinez M" first="Maria" last="Martinez">Maria Martinez</name></author><author><name sortKey="Penet, Christiane" sort="Penet, Christiane" uniqKey="Penet C" first="Christiane" last="Penet">Christiane Penet</name></author><author><name sortKey="Rasco, Olivier" sort="Rasco, Olivier" uniqKey="Rasco O" first="Olivier" last="Rasco">Olivier Rasco</name></author><author><name sortKey="Tison, Francois" sort="Tison, Francois" uniqKey="Tison F" first="François" last="Tison">François Tison</name></author><author><name sortKey="Tranchan, Christine" sort="Tranchan, Christine" uniqKey="Tranchan C" first="Christine" last="Tranchan">Christine Tranchan</name></author><author><name sortKey="Verin, Marc" sort="Verin, Marc" uniqKey="Verin M" first="Marc" last="Vérin">Marc Vérin</name></author></analytic><series><title level="j">Archives of neurology</title><idno type="ISSN">0003-9942</idno><imprint><date when="2007" type="published">2007</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Aged</term><term>Aged, 80 and over</term><term>DNA Mutational Analysis (methods)</term><term>Europe</term><term>Exons (genetics)</term><term>Female</term><term>Histidine (genetics)</term><term>Humans</term><term>Leucine-Rich Repeat Serine-Threonine Protein Kinase-2</term><term>Male</term><term>Middle Aged</term><term>Mutation</term><term>Parkinson Disease (genetics)</term><term>Protein-Serine-Threonine Kinases (genetics)</term><term>Serine (genetics)</term><term>Threonine (genetics)</term><term>Tyrosine (genetics)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Histidine</term><term>Protein-Serine-Threonine Kinases</term><term>Serine</term><term>Threonine</term><term>Tyrosine</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Exons</term><term>Parkinson Disease</term></keywords><keywords scheme="MESH" qualifier="methods" xml:lang="en"><term>DNA Mutational Analysis</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Aged</term><term>Aged, 80 and over</term><term>Europe</term><term>Female</term><term>Humans</term><term>Leucine-Rich Repeat Serine-Threonine Protein Kinase-2</term><term>Male</term><term>Middle Aged</term><term>Mutation</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Mutations in leucine-rich repeat kinase 2 gene (LRRK2), particularly the G2019S mutation in exon 41, have been detected in familial and sporadic Parkinson disease (PD) cases.</div></front></TEI><pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">17353388</PMID><DateCreated><Year>2007</Year><Month>03</Month><Day>13</Day></DateCreated><DateCompleted><Year>2007</Year><Month>04</Month><Day>24</Day></DateCompleted><DateRevised><Year>2016</Year><Month>11</Month><Day>24</Day></DateRevised><Article PubModel="Print"><Journal><ISSN IssnType="Print">0003-9942</ISSN><JournalIssue CitedMedium="Print"><Volume>64</Volume><Issue>3</Issue><PubDate><Year>2007</Year><Month>Mar</Month></PubDate></JournalIssue><Title>Archives of neurology</Title><ISOAbbreviation>Arch. Neurol.</ISOAbbreviation></Journal><ArticleTitle>LRRK2 exon 41 mutations in sporadic Parkinson disease in Europeans.</ArticleTitle><Pagination><MedlinePgn>425-30</MedlinePgn></Pagination><Abstract><AbstractText Label="BACKGROUND" NlmCategory="BACKGROUND">Mutations in leucine-rich repeat kinase 2 gene (LRRK2), particularly the G2019S mutation in exon 41, have been detected in familial and sporadic Parkinson disease (PD) cases.</AbstractText><AbstractText Label="OBJECTIVES" NlmCategory="OBJECTIVE">To assess the frequency of LRRK2 exon 41 mutations in a series of sporadic PD cases from Europe and to determine the clinical features of LRRK2 mutation carriers.</AbstractText><AbstractText Label="DESIGN" NlmCategory="METHODS">We analyzed European cases of sporadic PD for the presence of LRRK2 exon 41 mutations. These mutations were screened by denaturing high-performance liquid chromatography, and abnormal chromatograph traces were investigated by direct sequencing to determine the exact nature of the variants. Early-onset sporadic PD cases were also screened for parkin mutations. The haplotypes associated with the G2019S mutation were determined. The clinical characteristics of patients carrying LRRK2 mutations were detailed.</AbstractText><AbstractText Label="SETTING" NlmCategory="METHODS">French Network for the Study of Parkinson Disease Genetics. Patients Three hundred twenty patients with apparently sporadic PD from Europe.</AbstractText><AbstractText Label="MAIN OUTCOME MEASURES" NlmCategory="METHODS">Results of genetic analyses.</AbstractText><AbstractText Label="RESULTS" NlmCategory="RESULTS">We found the G2019S mutation in 6 patients and identified 2 new variants (Y2006H and T2031S) in 1 patient each. Their clinical features were similar to those of typical PD. All G2019S mutation carriers shared a common haplotype.</AbstractText><AbstractText Label="CONCLUSIONS" NlmCategory="CONCLUSIONS">The G2019S mutation is almost as frequent in sporadic cases (1.9%) as in previously reported familial cases (2.9%) in Europe and occurs in the same common founder. We identified 2 novel variants. Although the phenotype of LRRK2 mutation carriers closely resembles that of typical PD, the age at onset was younger (29 years in 1 patient) than previously described, and 3 patients were improved by deep brain stimulation.</AbstractText></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Lesage</LastName><ForeName>Suzanne</ForeName><Initials>S</Initials><AffiliationInfo><Affiliation>Institut National de la Santé et de la Recherche Médicale Unité 679, Neurology and Experimental Therapeutics, and Faculté de Médecine, Université Pierre et Marie Curie, 75651 Paris CEDEX 13, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Janin</LastName><ForeName>Sabine</ForeName><Initials>S</Initials></Author><Author ValidYN="Y"><LastName>Lohmann</LastName><ForeName>Ebba</ForeName><Initials>E</Initials></Author><Author ValidYN="Y"><LastName>Leutenegger</LastName><ForeName>Anne-Louise</ForeName><Initials>AL</Initials></Author><Author ValidYN="Y"><LastName>Leclere</LastName><ForeName>Laurence</ForeName><Initials>L</Initials></Author><Author ValidYN="Y"><LastName>Viallet</LastName><ForeName>François</ForeName><Initials>F</Initials></Author><Author ValidYN="Y"><LastName>Pollak</LastName><ForeName>Pierre</ForeName><Initials>P</Initials></Author><Author ValidYN="Y"><LastName>Durif</LastName><ForeName>Franck</ForeName><Initials>F</Initials></Author><Author ValidYN="Y"><LastName>Thobois</LastName><ForeName>Stéphane</ForeName><Initials>S</Initials></Author><Author ValidYN="Y"><LastName>Layet</LastName><ForeName>Valérie</ForeName><Initials>V</Initials></Author><Author ValidYN="Y"><LastName>Vidailhet</LastName><ForeName>Marie</ForeName><Initials>M</Initials></Author><Author ValidYN="Y"><LastName>Agid</LastName><ForeName>Yves</ForeName><Initials>Y</Initials></Author><Author ValidYN="Y"><LastName>Dürr</LastName><ForeName>Alexandra</ForeName><Initials>A</Initials></Author><Author ValidYN="Y"><LastName>Brice</LastName><ForeName>Alexis</ForeName><Initials>A</Initials></Author><Author ValidYN="Y"><CollectiveName>French Parkinson's Disease Genetics Study Group</CollectiveName></Author><Author ValidYN="Y"><LastName>Bonnet</LastName><ForeName>Anne-Marie</ForeName><Initials>AM</Initials></Author><Author ValidYN="Y"><LastName>Borg</LastName><ForeName>Michel</ForeName><Initials>M</Initials></Author><Author ValidYN="Y"><LastName>Broussolle</LastName><ForeName>Emmanuel</ForeName><Initials>E</Initials></Author><Author ValidYN="Y"><LastName>Damier</LastName><ForeName>Philippe</ForeName><Initials>P</Initials></Author><Author ValidYN="Y"><LastName>Destée</LastName><ForeName>Alain</ForeName><Initials>A</Initials></Author><Author ValidYN="Y"><LastName>Martinez</LastName><ForeName>Maria</ForeName><Initials>M</Initials></Author><Author ValidYN="Y"><LastName>Penet</LastName><ForeName>Christiane</ForeName><Initials>C</Initials></Author><Author ValidYN="Y"><LastName>Rasco</LastName><ForeName>Olivier</ForeName><Initials>O</Initials></Author><Author ValidYN="Y"><LastName>Tison</LastName><ForeName>François</ForeName><Initials>F</Initials></Author><Author ValidYN="Y"><LastName>Tranchan</LastName><ForeName>Christine</ForeName><Initials>C</Initials></Author><Author ValidYN="Y"><LastName>Vérin</LastName><ForeName>Marc</ForeName><Initials>M</Initials></Author></AuthorList><Language>eng</Language><GrantList CompleteYN="Y"><Grant><GrantID>NS41723-01A1</GrantID><Acronym>NS</Acronym><Agency>NINDS NIH HHS</Agency><Country>United States</Country></Grant></GrantList><PublicationTypeList><PublicationType UI="D003160">Comparative Study</PublicationType><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>Arch Neurol</MedlineTA><NlmUniqueID>0372436</NlmUniqueID><ISSNLinking>0003-9942</ISSNLinking></MedlineJournalInfo><ChemicalList><Chemical><RegistryNumber>2ZD004190S</RegistryNumber><NameOfSubstance UI="D013912">Threonine</NameOfSubstance></Chemical><Chemical><RegistryNumber>42HK56048U</RegistryNumber><NameOfSubstance UI="D014443">Tyrosine</NameOfSubstance></Chemical><Chemical><RegistryNumber>452VLY9402</RegistryNumber><NameOfSubstance UI="D012694">Serine</NameOfSubstance></Chemical><Chemical><RegistryNumber>4QD397987E</RegistryNumber><NameOfSubstance UI="D006639">Histidine</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="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>AIM</CitationSubset><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName UI="D000293" MajorTopicYN="N">Adolescent</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D000328" MajorTopicYN="N">Adult</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="D004252" MajorTopicYN="N">DNA Mutational Analysis</DescriptorName><QualifierName UI="Q000379" MajorTopicYN="N">methods</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D005060" MajorTopicYN="N">Europe</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D005091" MajorTopicYN="N">Exons</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D005260" MajorTopicYN="N">Female</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D006639" MajorTopicYN="N">Histidine</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D006801" MajorTopicYN="N">Humans</DescriptorName></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="Y">Mutation</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D010300" MajorTopicYN="N">Parkinson Disease</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D017346" MajorTopicYN="N">Protein-Serine-Threonine Kinases</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D012694" MajorTopicYN="N">Serine</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D013912" MajorTopicYN="N">Threonine</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D014443" MajorTopicYN="N">Tyrosine</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName></MeshHeading></MeshHeadingList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="pubmed"><Year>2007</Year><Month>3</Month><Day>14</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate 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