Penetrance in Parkinson's disease related to the LRRK2 R1441G mutation in the Basque country (Spain).
Identifieur interne : 002D89 ( Ncbi/Merge ); précédent : 002D88; suivant : 002D90Penetrance in Parkinson's disease related to the LRRK2 R1441G mutation in the Basque country (Spain).
Auteurs : Javier Ruiz-Martínez [Espagne] ; Ana Gorostidi ; Berta Iba Ez ; Ainhoa Alzualde ; David Otaegui ; Fermin Moreno ; Adolfo L Pez De Munain ; Alberto Bergareche ; Juan Carlos G Mez-Esteban ; José F. Martí MassSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2010.
Descripteurs français
- Wicri :
- geographic : Espagne.
English descriptors
- KwdEn :
- Age Factors, Aged, Aged, 80 and over, Arginine (genetics), Family, Female, Glycine (genetics), Humans, Incidence, Male, Middle Aged, Parkinson Disease (epidemiology), Parkinson Disease (genetics), Penetrance, Polymorphism, Single Nucleotide (genetics), Protein-Serine-Threonine Kinases (genetics), Spain (epidemiology), Spain (ethnology).
- MESH :
- chemical , genetics : Arginine, Glycine, Protein-Serine-Threonine Kinases.
- geographic , epidemiology : Spain.
- epidemiology : Parkinson Disease.
- geographic , ethnology : Spain.
- genetics : Parkinson Disease, Polymorphism, Single Nucleotide.
- Age Factors, Aged, Aged, 80 and over, Family, Female, Humans, Incidence, Male, Middle Aged, Penetrance.
Abstract
The LRRK2 R1441G mutation was first identified in Basque families and it is responsible for 46% of familial Parkinson's disease (PD) and for 2.5% of sporadic PD in the PD population of Basque ascent. The aim of this study was to determine LRRK2 R1441G penetrance in PD in the Basque Country (Spain) to help in a more accurate genetic counseling. A total of 59 sibships containing 244 individuals, with a total of 40 PD-affected relatives, were studied. Genetic testing for the R1441G mutation in the LRRK2 gene was performed in 133 individuals and was positive in 51% of them. Lifetime penetrance of R1441G mutations turned out to be 12.5% at 65 years to 83.4% at 80 years. No gender differences were found in penetrance.
DOI: 10.1002/mds.23278
PubMed: 20721916
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Martí Mass</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>Arginine (genetics)</term><term>Family</term><term>Female</term><term>Glycine (genetics)</term><term>Humans</term><term>Incidence</term><term>Male</term><term>Middle Aged</term><term>Parkinson Disease (epidemiology)</term><term>Parkinson Disease (genetics)</term><term>Penetrance</term><term>Polymorphism, Single Nucleotide (genetics)</term><term>Protein-Serine-Threonine Kinases (genetics)</term><term>Spain (epidemiology)</term><term>Spain (ethnology)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Arginine</term><term>Glycine</term><term>Protein-Serine-Threonine Kinases</term></keywords><keywords scheme="MESH" type="geographic" qualifier="epidemiology" xml:lang="en"><term>Spain</term></keywords><keywords scheme="MESH" qualifier="epidemiology" xml:lang="en"><term>Parkinson Disease</term></keywords><keywords scheme="MESH" type="geographic" qualifier="ethnology" xml:lang="en"><term>Spain</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Parkinson Disease</term><term>Polymorphism, Single Nucleotide</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Age Factors</term><term>Aged</term><term>Aged, 80 and over</term><term>Family</term><term>Female</term><term>Humans</term><term>Incidence</term><term>Male</term><term>Middle Aged</term><term>Penetrance</term></keywords><keywords scheme="Wicri" type="geographic" xml:lang="fr"><term>Espagne</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">The LRRK2 R1441G mutation was first identified in Basque families and it is responsible for 46% of familial Parkinson's disease (PD) and for 2.5% of sporadic PD in the PD population of Basque ascent. The aim of this study was to determine LRRK2 R1441G penetrance in PD in the Basque Country (Spain) to help in a more accurate genetic counseling. A total of 59 sibships containing 244 individuals, with a total of 40 PD-affected relatives, were studied. Genetic testing for the R1441G mutation in the LRRK2 gene was performed in 133 individuals and was positive in 51% of them. Lifetime penetrance of R1441G mutations turned out to be 12.5% at 65 years to 83.4% at 80 years. No gender differences were found in penetrance.</div></front></TEI><pubmed><MedlineCitation Owner="NLM" Status="MEDLINE"><PMID Version="1">20721916</PMID><DateCreated><Year>2010</Year><Month>10</Month><Day>26</Day></DateCreated><DateCompleted><Year>2011</Year><Month>02</Month><Day>22</Day></DateCompleted><DateRevised><Year>2013</Year><Month>11</Month><Day>21</Day></DateRevised><Article PubModel="Print"><Journal><ISSN IssnType="Electronic">1531-8257</ISSN><JournalIssue CitedMedium="Internet"><Volume>25</Volume><Issue>14</Issue><PubDate><Year>2010</Year><Month>Oct</Month><Day>30</Day></PubDate></JournalIssue><Title>Movement disorders : official journal of the Movement Disorder Society</Title><ISOAbbreviation>Mov. Disord.</ISOAbbreviation></Journal><ArticleTitle>Penetrance in Parkinson's disease related to the LRRK2 R1441G mutation in the Basque country (Spain).</ArticleTitle><Pagination><MedlinePgn>2340-5</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1002/mds.23278</ELocationID><Abstract><AbstractText>The LRRK2 R1441G mutation was first identified in Basque families and it is responsible for 46% of familial Parkinson's disease (PD) and for 2.5% of sporadic PD in the PD population of Basque ascent. The aim of this study was to determine LRRK2 R1441G penetrance in PD in the Basque Country (Spain) to help in a more accurate genetic counseling. A total of 59 sibships containing 244 individuals, with a total of 40 PD-affected relatives, were studied. Genetic testing for the R1441G mutation in the LRRK2 gene was performed in 133 individuals and was positive in 51% of them. Lifetime penetrance of R1441G mutations turned out to be 12.5% at 65 years to 83.4% at 80 years. No gender differences were found in penetrance.</AbstractText></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Ruiz-Martínez</LastName><ForeName>Javier</ForeName><Initials>J</Initials><AffiliationInfo><Affiliation>Servicio de Neurología, Hospital Donostia, San Sebastián, Gipuzkoa, Spain. javier.ruizmartinez@osakidetza.net</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Gorostidi</LastName><ForeName>Ana</ForeName><Initials>A</Initials></Author><Author ValidYN="Y"><LastName>Ibañez</LastName><ForeName>Berta</ForeName><Initials>B</Initials></Author><Author ValidYN="Y"><LastName>Alzualde</LastName><ForeName>Ainhoa</ForeName><Initials>A</Initials></Author><Author ValidYN="Y"><LastName>Otaegui</LastName><ForeName>David</ForeName><Initials>D</Initials></Author><Author ValidYN="Y"><LastName>Moreno</LastName><ForeName>Fermin</ForeName><Initials>F</Initials></Author><Author ValidYN="Y"><LastName>López de Munain</LastName><ForeName>Adolfo</ForeName><Initials>A</Initials></Author><Author ValidYN="Y"><LastName>Bergareche</LastName><ForeName>Alberto</ForeName><Initials>A</Initials></Author><Author ValidYN="Y"><LastName>Gómez-Esteban</LastName><ForeName>Juan Carlos</ForeName><Initials>JC</Initials></Author><Author ValidYN="Y"><LastName>Martí Massó</LastName><ForeName>José F</ForeName><Initials>JF</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>94ZLA3W45F</RegistryNumber><NameOfSubstance UI="D001120">Arginine</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="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="D001120">Arginine</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005190">Family</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005260">Female</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="D015994">Incidence</DescriptorName></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="D010300">Parkinson Disease</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000453">epidemiology</QualifierName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="Y" UI="D019683">Penetrance</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D020641">Polymorphism, Single Nucleotide</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</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" Type="Geographic" UI="D013030">Spain</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000453">epidemiology</QualifierName><QualifierName MajorTopicYN="N" UI="Q000208">ethnology</QualifierName></MeshHeading></MeshHeadingList></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>23</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="doi">10.1002/mds.23278</ArticleId><ArticleId IdType="pubmed">20721916</ArticleId></ArticleIdList></PubmedData></pubmed><affiliations><list><country><li>Espagne</li></country></list><tree><noCountry><name sortKey="Alzualde, Ainhoa" sort="Alzualde, Ainhoa" uniqKey="Alzualde A" first="Ainhoa" last="Alzualde">Ainhoa Alzualde</name><name sortKey="Bergareche, Alberto" sort="Bergareche, Alberto" uniqKey="Bergareche A" first="Alberto" last="Bergareche">Alberto Bergareche</name><name sortKey="G Mez Esteban, Juan Carlos" sort="G Mez Esteban, Juan Carlos" uniqKey="G Mez Esteban J" first="Juan Carlos" last="G Mez-Esteban">Juan Carlos G Mez-Esteban</name><name sortKey="Gorostidi, Ana" sort="Gorostidi, Ana" uniqKey="Gorostidi A" first="Ana" last="Gorostidi">Ana Gorostidi</name><name sortKey="Iba Ez, Berta" sort="Iba Ez, Berta" uniqKey="Iba Ez B" first="Berta" last="Iba Ez">Berta Iba Ez</name><name sortKey="L Pez De Munain, Adolfo" sort="L Pez De Munain, Adolfo" uniqKey="L Pez De Munain A" first="Adolfo" last="L Pez De Munain">Adolfo L Pez De Munain</name><name sortKey="Marti Mass, Jose F" sort="Marti Mass, Jose F" uniqKey="Marti Mass J" first="José F" last="Martí Mass">José F. Martí Mass</name><name sortKey="Moreno, Fermin" sort="Moreno, Fermin" uniqKey="Moreno F" first="Fermin" last="Moreno">Fermin Moreno</name><name sortKey="Otaegui, David" sort="Otaegui, David" uniqKey="Otaegui D" first="David" last="Otaegui">David Otaegui</name></noCountry><country name="Espagne"><noRegion><name sortKey="Ruiz Martinez, Javier" sort="Ruiz Martinez, Javier" uniqKey="Ruiz Martinez J" first="Javier" last="Ruiz-Martínez">Javier Ruiz-Martínez</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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