High prevalence of LRRK2 mutations in familial and sporadic Parkinson's disease in Portugal.
Identifieur interne : 002756 ( PubMed/Curation ); précédent : 002755; suivant : 002757High prevalence of LRRK2 mutations in familial and sporadic Parkinson's disease in Portugal.
Auteurs : Joaquim J. Ferreira [Portugal] ; Leonor Correia Guedes ; Mário Miguel Rosa ; Miguel Coelho ; Marina Van Doeselaar ; Dorothea Schweiger ; Alessio Di Fonzo ; Ben A. Oostra ; Cristina Sampaio ; Vincenzo BonifatiSource :
- Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2007.
Descripteurs français
- Wicri :
- geographic : Portugal.
English descriptors
- KwdEn :
- MESH :
- chemical , genetics : Protein-Serine-Threonine Kinases.
- geographic , epidemiology : Portugal.
- epidemiology : Parkinson Disease.
- genetics : Exons, Parkinson Disease, Point Mutation.
- Adult, Aged, DNA Mutational Analysis, Female, Humans, Male, Middle Aged, Pedigree, Phenotype, Prevalence.
Abstract
Mutations in the Leucine-Rich Repeat Kinase 2 (LRRK2) gene are the most frequent known cause of Parkinson's disease (PD), but their prevalence varies markedly between populations. Here we studied the frequency and associated phenotype of four recurrent LRRK2 mutations (R1441C, R1441G, R1441H, and G2019S) in familial and sporadic PD from a single referral center in Lisbon, Portugal. Among 138 unrelated PD probands, we identified 9 heterozygous G2019S carriers (6.52%) and 1 heterozygous R1441H carrier (0.72%). The G2019S mutation was present in 4 of the 107 sporadic (3.74%) and in 5 of the 31 familial probands (16.1%). Mutations were not found among 101 Portuguese controls. The G2019S mutation was present on a single haplotype and displayed reduced penetrance. Heterozygous parkin gene mutations were also found in 2 G2019S-positive probands, but their pathogenic role is unclear. The clinical phenotype in patients with LRRK2 mutations was indistinguishable from that of typical PD, including impaired sense of smell. The G2019S mutation is a very common genetic determinant among the Portuguese patients with PD, and the R1441H mutation is also present in this population. These data have important implications for the diagnostic work-up and genetic counseling of patients with this disease in Portugal.
DOI: 10.1002/mds.21525
PubMed: 17469194
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Ferreira</name><affiliation wicri:level="1"><nlm:affiliation>Neurological Clinic Research Unit, Institute of Molecular Medicine, Lisbon School of Medicine, Lisbon, Portugal. v.bonifati@erasmusmc.nl</nlm:affiliation><country xml:lang="fr">Portugal</country><wicri:regionArea>Neurological Clinic Research Unit, Institute of Molecular Medicine, Lisbon School of Medicine, Lisbon</wicri:regionArea></affiliation></author><author><name sortKey="Guedes, Leonor Correia" sort="Guedes, Leonor Correia" uniqKey="Guedes L" first="Leonor Correia" last="Guedes">Leonor Correia Guedes</name></author><author><name sortKey="Rosa, Mario Miguel" sort="Rosa, Mario Miguel" uniqKey="Rosa M" first="Mário Miguel" last="Rosa">Mário Miguel Rosa</name></author><author><name sortKey="Coelho, Miguel" sort="Coelho, Miguel" uniqKey="Coelho M" first="Miguel" last="Coelho">Miguel Coelho</name></author><author><name sortKey="Van Doeselaar, Marina" sort="Van Doeselaar, Marina" uniqKey="Van Doeselaar M" first="Marina" last="Van Doeselaar">Marina Van Doeselaar</name></author><author><name sortKey="Schweiger, Dorothea" sort="Schweiger, Dorothea" uniqKey="Schweiger D" first="Dorothea" last="Schweiger">Dorothea Schweiger</name></author><author><name sortKey="Di Fonzo, Alessio" sort="Di Fonzo, Alessio" uniqKey="Di Fonzo A" first="Alessio" last="Di Fonzo">Alessio Di Fonzo</name></author><author><name sortKey="Oostra, Ben A" sort="Oostra, Ben A" uniqKey="Oostra B" first="Ben A" last="Oostra">Ben A. Oostra</name></author><author><name sortKey="Sampaio, Cristina" sort="Sampaio, Cristina" uniqKey="Sampaio C" first="Cristina" last="Sampaio">Cristina Sampaio</name></author><author><name sortKey="Bonifati, Vincenzo" sort="Bonifati, Vincenzo" uniqKey="Bonifati V" first="Vincenzo" last="Bonifati">Vincenzo Bonifati</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2007">2007</date><idno type="doi">10.1002/mds.21525</idno><idno type="RBID">pubmed:17469194</idno><idno type="pmid">17469194</idno><idno type="wicri:Area/PubMed/Corpus">002756</idno><idno type="wicri:Area/PubMed/Curation">002756</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">High prevalence of LRRK2 mutations in familial and sporadic Parkinson's disease in Portugal.</title><author><name sortKey="Ferreira, Joaquim J" sort="Ferreira, Joaquim J" uniqKey="Ferreira J" first="Joaquim J" last="Ferreira">Joaquim J. Ferreira</name><affiliation wicri:level="1"><nlm:affiliation>Neurological Clinic Research Unit, Institute of Molecular Medicine, Lisbon School of Medicine, Lisbon, Portugal. v.bonifati@erasmusmc.nl</nlm:affiliation><country xml:lang="fr">Portugal</country><wicri:regionArea>Neurological Clinic Research Unit, Institute of Molecular Medicine, Lisbon School of Medicine, Lisbon</wicri:regionArea></affiliation></author><author><name sortKey="Guedes, Leonor Correia" sort="Guedes, Leonor Correia" uniqKey="Guedes L" first="Leonor Correia" last="Guedes">Leonor Correia Guedes</name></author><author><name sortKey="Rosa, Mario Miguel" sort="Rosa, Mario Miguel" uniqKey="Rosa M" first="Mário Miguel" last="Rosa">Mário Miguel Rosa</name></author><author><name sortKey="Coelho, Miguel" sort="Coelho, Miguel" uniqKey="Coelho M" first="Miguel" last="Coelho">Miguel Coelho</name></author><author><name sortKey="Van Doeselaar, Marina" sort="Van Doeselaar, Marina" uniqKey="Van Doeselaar M" first="Marina" last="Van Doeselaar">Marina Van Doeselaar</name></author><author><name sortKey="Schweiger, Dorothea" sort="Schweiger, Dorothea" uniqKey="Schweiger D" first="Dorothea" last="Schweiger">Dorothea Schweiger</name></author><author><name sortKey="Di Fonzo, Alessio" sort="Di Fonzo, Alessio" uniqKey="Di Fonzo A" first="Alessio" last="Di Fonzo">Alessio Di Fonzo</name></author><author><name sortKey="Oostra, Ben A" sort="Oostra, Ben A" uniqKey="Oostra B" first="Ben A" last="Oostra">Ben A. Oostra</name></author><author><name sortKey="Sampaio, Cristina" sort="Sampaio, Cristina" uniqKey="Sampaio C" first="Cristina" last="Sampaio">Cristina Sampaio</name></author><author><name sortKey="Bonifati, Vincenzo" sort="Bonifati, Vincenzo" uniqKey="Bonifati V" first="Vincenzo" last="Bonifati">Vincenzo Bonifati</name></author></analytic><series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title><idno type="ISSN">0885-3185</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>Aged</term><term>DNA Mutational Analysis</term><term>Exons (genetics)</term><term>Female</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Parkinson Disease (epidemiology)</term><term>Parkinson Disease (genetics)</term><term>Pedigree</term><term>Phenotype</term><term>Point Mutation (genetics)</term><term>Portugal (epidemiology)</term><term>Prevalence</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="geographic" qualifier="epidemiology" xml:lang="en"><term>Portugal</term></keywords><keywords scheme="MESH" qualifier="epidemiology" xml:lang="en"><term>Parkinson Disease</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Exons</term><term>Parkinson Disease</term><term>Point Mutation</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Aged</term><term>DNA Mutational Analysis</term><term>Female</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Pedigree</term><term>Phenotype</term><term>Prevalence</term></keywords><keywords scheme="Wicri" type="geographic" xml:lang="fr"><term>Portugal</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Mutations in the Leucine-Rich Repeat Kinase 2 (LRRK2) gene are the most frequent known cause of Parkinson's disease (PD), but their prevalence varies markedly between populations. Here we studied the frequency and associated phenotype of four recurrent LRRK2 mutations (R1441C, R1441G, R1441H, and G2019S) in familial and sporadic PD from a single referral center in Lisbon, Portugal. Among 138 unrelated PD probands, we identified 9 heterozygous G2019S carriers (6.52%) and 1 heterozygous R1441H carrier (0.72%). The G2019S mutation was present in 4 of the 107 sporadic (3.74%) and in 5 of the 31 familial probands (16.1%). Mutations were not found among 101 Portuguese controls. The G2019S mutation was present on a single haplotype and displayed reduced penetrance. Heterozygous parkin gene mutations were also found in 2 G2019S-positive probands, but their pathogenic role is unclear. The clinical phenotype in patients with LRRK2 mutations was indistinguishable from that of typical PD, including impaired sense of smell. The G2019S mutation is a very common genetic determinant among the Portuguese patients with PD, and the R1441H mutation is also present in this population. These data have important implications for the diagnostic work-up and genetic counseling of patients with this disease in Portugal.</div></front></TEI><pubmed><MedlineCitation Owner="NLM" Status="MEDLINE"><PMID Version="1">17469194</PMID><DateCreated><Year>2007</Year><Month>07</Month><Day>30</Day></DateCreated><DateCompleted><Year>2007</Year><Month>09</Month><Day>07</Day></DateCompleted><DateRevised><Year>2012</Year><Month>06</Month><Day>25</Day></DateRevised><Article PubModel="Print"><Journal><ISSN IssnType="Print">0885-3185</ISSN><JournalIssue CitedMedium="Print"><Volume>22</Volume><Issue>8</Issue><PubDate><Year>2007</Year><Month>Jun</Month><Day>15</Day></PubDate></JournalIssue><Title>Movement disorders : official journal of the Movement Disorder Society</Title><ISOAbbreviation>Mov. Disord.</ISOAbbreviation></Journal><ArticleTitle>High prevalence of LRRK2 mutations in familial and sporadic Parkinson's disease in Portugal.</ArticleTitle><Pagination><MedlinePgn>1194-201</MedlinePgn></Pagination><Abstract><AbstractText>Mutations in the Leucine-Rich Repeat Kinase 2 (LRRK2) gene are the most frequent known cause of Parkinson's disease (PD), but their prevalence varies markedly between populations. Here we studied the frequency and associated phenotype of four recurrent LRRK2 mutations (R1441C, R1441G, R1441H, and G2019S) in familial and sporadic PD from a single referral center in Lisbon, Portugal. Among 138 unrelated PD probands, we identified 9 heterozygous G2019S carriers (6.52%) and 1 heterozygous R1441H carrier (0.72%). The G2019S mutation was present in 4 of the 107 sporadic (3.74%) and in 5 of the 31 familial probands (16.1%). Mutations were not found among 101 Portuguese controls. The G2019S mutation was present on a single haplotype and displayed reduced penetrance. Heterozygous parkin gene mutations were also found in 2 G2019S-positive probands, but their pathogenic role is unclear. The clinical phenotype in patients with LRRK2 mutations was indistinguishable from that of typical PD, including impaired sense of smell. The G2019S mutation is a very common genetic determinant among the Portuguese patients with PD, and the R1441H mutation is also present in this population. These data have important implications for the diagnostic work-up and genetic counseling of patients with this disease in Portugal.</AbstractText></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Ferreira</LastName><ForeName>Joaquim J</ForeName><Initials>JJ</Initials><AffiliationInfo><Affiliation>Neurological Clinic Research Unit, Institute of Molecular Medicine, Lisbon School of Medicine, Lisbon, Portugal. v.bonifati@erasmusmc.nl</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Guedes</LastName><ForeName>Leonor Correia</ForeName><Initials>LC</Initials></Author><Author ValidYN="Y"><LastName>Rosa</LastName><ForeName>Mário Miguel</ForeName><Initials>MM</Initials></Author><Author ValidYN="Y"><LastName>Coelho</LastName><ForeName>Miguel</ForeName><Initials>M</Initials></Author><Author ValidYN="Y"><LastName>van Doeselaar</LastName><ForeName>Marina</ForeName><Initials>M</Initials></Author><Author ValidYN="Y"><LastName>Schweiger</LastName><ForeName>Dorothea</ForeName><Initials>D</Initials></Author><Author ValidYN="Y"><LastName>Di Fonzo</LastName><ForeName>Alessio</ForeName><Initials>A</Initials></Author><Author ValidYN="Y"><LastName>Oostra</LastName><ForeName>Ben A</ForeName><Initials>BA</Initials></Author><Author ValidYN="Y"><LastName>Sampaio</LastName><ForeName>Cristina</ForeName><Initials>C</Initials></Author><Author ValidYN="Y"><LastName>Bonifati</LastName><ForeName>Vincenzo</ForeName><Initials>V</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>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><MeshHeadingList><MeshHeading><DescriptorName MajorTopicYN="N" UI="D000328">Adult</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D000368">Aged</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D004252">DNA Mutational Analysis</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005091">Exons</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005260">Female</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D006801">Humans</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="Y" UI="Q000453">epidemiology</QualifierName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D010375">Pedigree</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D010641">Phenotype</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D017354">Point Mutation</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" Type="Geographic" UI="D011174">Portugal</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000453">epidemiology</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D015995">Prevalence</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D017346">Protein-Serine-Threonine Kinases</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading></MeshHeadingList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="pubmed"><Year>2007</Year><Month>5</Month><Day>1</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2007</Year><Month>9</Month><Day>8</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2007</Year><Month>5</Month><Day>1</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="doi">10.1002/mds.21525</ArticleId><ArticleId IdType="pubmed">17469194</ArticleId></ArticleIdList></PubmedData></pubmed></record>Pour manipuler ce document sous Unix (Dilib)
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