The LRRK2 R1441C mutation is more frequent than G2019S in Parkinson's disease patients from southern Italy.
Identifieur interne : 003197 ( Ncbi/Merge ); précédent : 003196; suivant : 003198The LRRK2 R1441C mutation is more frequent than G2019S in Parkinson's disease patients from southern Italy.
Auteurs : Chiara Criscuolo [Pays-Bas] ; Anna De Rosa ; Anna Guacci ; Erik J. Simons ; Guido J. Breedveld ; Silvio Peluso ; Giampiero Volpe ; Alessandro Filla ; Ben A. Oostra ; Vincenzo Bonifati ; Giuseppe De MicheleSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2011.
Descripteurs français
- Wicri :
- geographic : Italie.
English descriptors
- KwdEn :
- Aged, Amino Acids (genetics), Disability Evaluation, Female, Gene Frequency, Genetic Association Studies, Genetic Predisposition to Disease (genetics), Genotype, Humans, Italy, Male, Middle Aged, Parkinson Disease (genetics), Polymorphism, Single Nucleotide (genetics), Protein-Serine-Threonine Kinases (genetics).
- MESH :
- chemical , genetics : Amino Acids, Protein-Serine-Threonine Kinases.
- geographic : Italy.
- genetics : Genetic Predisposition to Disease, Parkinson Disease, Polymorphism, Single Nucleotide.
- Aged, Disability Evaluation, Female, Gene Frequency, Genetic Association Studies, Genotype, Humans, Male, Middle Aged.
Abstract
Mutations in the leucine-rich repeat kinase 2 gene are the most frequent cause of familial and sporadic Parkinson's disease, and G2019S is the most common leucine-rich repeat kinase 2 mutation across several Mediterranean countries.
DOI: 10.1002/mds.23735
PubMed: 21538529
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pubmed:21538529Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">The LRRK2 R1441C mutation is more frequent than G2019S in Parkinson's disease patients from southern Italy.</title><author><name sortKey="Criscuolo, Chiara" sort="Criscuolo, Chiara" uniqKey="Criscuolo C" first="Chiara" last="Criscuolo">Chiara Criscuolo</name><affiliation wicri:level="3"><nlm:affiliation>Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands. sky569@libero.it</nlm:affiliation><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Clinical Genetics, Erasmus MC, Rotterdam</wicri:regionArea><placeName><settlement type="city">Rotterdam</settlement><region nuts="2" type="province">Hollande-Méridionale</region></placeName></affiliation></author><author><name sortKey="De Rosa, Anna" sort="De Rosa, Anna" uniqKey="De Rosa A" first="Anna" last="De Rosa">Anna De Rosa</name></author><author><name sortKey="Guacci, Anna" sort="Guacci, Anna" uniqKey="Guacci A" first="Anna" last="Guacci">Anna Guacci</name></author><author><name sortKey="Simons, Erik J" sort="Simons, Erik J" uniqKey="Simons E" first="Erik J" last="Simons">Erik J. Simons</name></author><author><name sortKey="Breedveld, Guido J" sort="Breedveld, Guido J" uniqKey="Breedveld G" first="Guido J" last="Breedveld">Guido J. Breedveld</name></author><author><name sortKey="Peluso, Silvio" sort="Peluso, Silvio" uniqKey="Peluso S" first="Silvio" last="Peluso">Silvio Peluso</name></author><author><name sortKey="Volpe, Giampiero" sort="Volpe, Giampiero" uniqKey="Volpe G" first="Giampiero" last="Volpe">Giampiero Volpe</name></author><author><name sortKey="Filla, Alessandro" sort="Filla, Alessandro" uniqKey="Filla A" first="Alessandro" last="Filla">Alessandro Filla</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="Bonifati, Vincenzo" sort="Bonifati, Vincenzo" uniqKey="Bonifati V" first="Vincenzo" last="Bonifati">Vincenzo Bonifati</name></author><author><name sortKey="De Michele, Giuseppe" sort="De Michele, Giuseppe" uniqKey="De Michele G" first="Giuseppe" last="De Michele">Giuseppe De Michele</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2011">2011</date><idno type="doi">10.1002/mds.23735</idno><idno type="RBID">pubmed:21538529</idno><idno type="pmid">21538529</idno><idno type="wicri:Area/PubMed/Corpus">001230</idno><idno type="wicri:Area/PubMed/Curation">001230</idno><idno type="wicri:Area/PubMed/Checkpoint">001065</idno><idno type="wicri:Area/Ncbi/Merge">003197</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">The LRRK2 R1441C mutation is more frequent than G2019S in Parkinson's disease patients from southern Italy.</title><author><name sortKey="Criscuolo, Chiara" sort="Criscuolo, Chiara" uniqKey="Criscuolo C" first="Chiara" last="Criscuolo">Chiara Criscuolo</name><affiliation wicri:level="3"><nlm:affiliation>Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands. sky569@libero.it</nlm:affiliation><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Clinical Genetics, Erasmus MC, Rotterdam</wicri:regionArea><placeName><settlement type="city">Rotterdam</settlement><region nuts="2" type="province">Hollande-Méridionale</region></placeName></affiliation></author><author><name sortKey="De Rosa, Anna" sort="De Rosa, Anna" uniqKey="De Rosa A" first="Anna" last="De Rosa">Anna De Rosa</name></author><author><name sortKey="Guacci, Anna" sort="Guacci, Anna" uniqKey="Guacci A" first="Anna" last="Guacci">Anna Guacci</name></author><author><name sortKey="Simons, Erik J" sort="Simons, Erik J" uniqKey="Simons E" first="Erik J" last="Simons">Erik J. Simons</name></author><author><name sortKey="Breedveld, Guido J" sort="Breedveld, Guido J" uniqKey="Breedveld G" first="Guido J" last="Breedveld">Guido J. Breedveld</name></author><author><name sortKey="Peluso, Silvio" sort="Peluso, Silvio" uniqKey="Peluso S" first="Silvio" last="Peluso">Silvio Peluso</name></author><author><name sortKey="Volpe, Giampiero" sort="Volpe, Giampiero" uniqKey="Volpe G" first="Giampiero" last="Volpe">Giampiero Volpe</name></author><author><name sortKey="Filla, Alessandro" sort="Filla, Alessandro" uniqKey="Filla A" first="Alessandro" last="Filla">Alessandro Filla</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="Bonifati, Vincenzo" sort="Bonifati, Vincenzo" uniqKey="Bonifati V" first="Vincenzo" last="Bonifati">Vincenzo Bonifati</name></author><author><name sortKey="De Michele, Giuseppe" sort="De Michele, Giuseppe" uniqKey="De Michele G" first="Giuseppe" last="De Michele">Giuseppe De Michele</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="2011" type="published">2011</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Aged</term><term>Amino Acids (genetics)</term><term>Disability Evaluation</term><term>Female</term><term>Gene Frequency</term><term>Genetic Association Studies</term><term>Genetic Predisposition to Disease (genetics)</term><term>Genotype</term><term>Humans</term><term>Italy</term><term>Male</term><term>Middle Aged</term><term>Parkinson Disease (genetics)</term><term>Polymorphism, Single Nucleotide (genetics)</term><term>Protein-Serine-Threonine Kinases (genetics)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Amino Acids</term><term>Protein-Serine-Threonine Kinases</term></keywords><keywords scheme="MESH" type="geographic" xml:lang="en"><term>Italy</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Genetic Predisposition to Disease</term><term>Parkinson Disease</term><term>Polymorphism, Single Nucleotide</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Aged</term><term>Disability Evaluation</term><term>Female</term><term>Gene Frequency</term><term>Genetic Association Studies</term><term>Genotype</term><term>Humans</term><term>Male</term><term>Middle Aged</term></keywords><keywords scheme="Wicri" type="geographic" xml:lang="fr"><term>Italie</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Mutations in the leucine-rich repeat kinase 2 gene are the most frequent cause of familial and sporadic Parkinson's disease, and G2019S is the most common leucine-rich repeat kinase 2 mutation across several Mediterranean countries.</div></front></TEI><pubmed><MedlineCitation Owner="NLM" Status="MEDLINE"><PMID Version="1">21538529</PMID><DateCreated><Year>2011</Year><Month>08</Month><Day>10</Day></DateCreated><DateCompleted><Year>2011</Year><Month>12</Month><Day>08</Day></DateCompleted><DateRevised><Year>2012</Year><Month>06</Month><Day>25</Day></DateRevised><Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1531-8257</ISSN><JournalIssue CitedMedium="Internet"><Volume>26</Volume><Issue>9</Issue><PubDate><Year>2011</Year><Month>Aug</Month><Day>1</Day></PubDate></JournalIssue><Title>Movement disorders : official journal of the Movement Disorder Society</Title><ISOAbbreviation>Mov. Disord.</ISOAbbreviation></Journal><ArticleTitle>The LRRK2 R1441C mutation is more frequent than G2019S in Parkinson's disease patients from southern Italy.</ArticleTitle><Pagination><MedlinePgn>1733-6</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1002/mds.23735</ELocationID><Abstract><AbstractText Label="BACKGROUND" NlmCategory="BACKGROUND">Mutations in the leucine-rich repeat kinase 2 gene are the most frequent cause of familial and sporadic Parkinson's disease, and G2019S is the most common leucine-rich repeat kinase 2 mutation across several Mediterranean countries.</AbstractText><AbstractText Label="METHODS" NlmCategory="METHODS">One hundred ninety-two patients with Parkinson's disease from Campania, a region in southern Italy, were screened for R1441C/H/G and G2019S by direct sequencing and SfcI digestion.</AbstractText><AbstractText Label="RESULTS" NlmCategory="RESULTS">Among 192 patients with Parkinson's disease (mean age±SD, 63.9±11.8 years; disease onset, 54.0±12.5 years; family history for Parkinson's disease or tremor, 45%), 8 carried a heterozygous R1441C mutation, whereas only 1 had the G2019S mutation. All R1441C patients originate from the province of Naples and share the same haplotype, suggesting a founder effect.</AbstractText><AbstractText Label="CONCLUSIONS" NlmCategory="CONCLUSIONS">G2019S is not ubiquitously the most common leucine-rich repeat kinase 2 mutation; in Campania R1441C is more frequent. Region-specific mutation prevalence data should be taken into account for a sensitive and cost-effective molecular diagnosis and counseling of patients with Parkinson's disease.</AbstractText><CopyrightInformation>Copyright © 2011 Movement Disorder Society.</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Criscuolo</LastName><ForeName>Chiara</ForeName><Initials>C</Initials><AffiliationInfo><Affiliation>Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands. sky569@libero.it</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>De Rosa</LastName><ForeName>Anna</ForeName><Initials>A</Initials></Author><Author ValidYN="Y"><LastName>Guacci</LastName><ForeName>Anna</ForeName><Initials>A</Initials></Author><Author ValidYN="Y"><LastName>Simons</LastName><ForeName>Erik J</ForeName><Initials>EJ</Initials></Author><Author ValidYN="Y"><LastName>Breedveld</LastName><ForeName>Guido J</ForeName><Initials>GJ</Initials></Author><Author ValidYN="Y"><LastName>Peluso</LastName><ForeName>Silvio</ForeName><Initials>S</Initials></Author><Author ValidYN="Y"><LastName>Volpe</LastName><ForeName>Giampiero</ForeName><Initials>G</Initials></Author><Author ValidYN="Y"><LastName>Filla</LastName><ForeName>Alessandro</ForeName><Initials>A</Initials></Author><Author ValidYN="Y"><LastName>Oostra</LastName><ForeName>Ben A</ForeName><Initials>BA</Initials></Author><Author ValidYN="Y"><LastName>Bonifati</LastName><ForeName>Vincenzo</ForeName><Initials>V</Initials></Author><Author ValidYN="Y"><LastName>De Michele</LastName><ForeName>Giuseppe</ForeName><Initials>G</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>2011</Year><Month>04</Month><Day>29</Day></ArticleDate></Article><MedlineJournalInfo><Country>United States</Country><MedlineTA>Mov Disord</MedlineTA><NlmUniqueID>8610688</NlmUniqueID><ISSNLinking>0885-3185</ISSNLinking></MedlineJournalInfo><ChemicalList><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D000596">Amino Acids</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></ChemicalList><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName MajorTopicYN="N" UI="D000368">Aged</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D000596">Amino Acids</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D004185">Disability Evaluation</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="D056726">Genetic Association Studies</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="D006801">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" Type="Geographic" UI="D007558">Italy</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="Q000235">genetics</QualifierName></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></MeshHeadingList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="received"><Year>2010</Year><Month>12</Month><Day>11</Day></PubMedPubDate><PubMedPubDate PubStatus="revised"><Year>2011</Year><Month>2</Month><Day>22</Day></PubMedPubDate><PubMedPubDate PubStatus="accepted"><Year>2011</Year><Month>2</Month><Day>24</Day></PubMedPubDate><PubMedPubDate PubStatus="aheadofprint"><Year>2011</Year><Month>4</Month><Day>29</Day></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2011</Year><Month>5</Month><Day>4</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="pubmed"><Year>2011</Year><Month>5</Month><Day>4</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2011</Year><Month>12</Month><Day>13</Day><Hour>0</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="doi">10.1002/mds.23735</ArticleId><ArticleId IdType="pubmed">21538529</ArticleId></ArticleIdList></PubmedData></pubmed><affiliations><list><country><li>Pays-Bas</li></country><region><li>Hollande-Méridionale</li></region><settlement><li>Rotterdam</li></settlement></list><tree><noCountry><name sortKey="Bonifati, Vincenzo" sort="Bonifati, Vincenzo" uniqKey="Bonifati V" first="Vincenzo" last="Bonifati">Vincenzo Bonifati</name><name sortKey="Breedveld, Guido J" sort="Breedveld, Guido J" uniqKey="Breedveld G" first="Guido J" last="Breedveld">Guido J. Breedveld</name><name sortKey="De Michele, Giuseppe" sort="De Michele, Giuseppe" uniqKey="De Michele G" first="Giuseppe" last="De Michele">Giuseppe De Michele</name><name sortKey="De Rosa, Anna" sort="De Rosa, Anna" uniqKey="De Rosa A" first="Anna" last="De Rosa">Anna De Rosa</name><name sortKey="Filla, Alessandro" sort="Filla, Alessandro" uniqKey="Filla A" first="Alessandro" last="Filla">Alessandro Filla</name><name sortKey="Guacci, Anna" sort="Guacci, Anna" uniqKey="Guacci A" first="Anna" last="Guacci">Anna Guacci</name><name sortKey="Oostra, Ben A" sort="Oostra, Ben A" uniqKey="Oostra B" first="Ben A" last="Oostra">Ben A. Oostra</name><name sortKey="Peluso, Silvio" sort="Peluso, Silvio" uniqKey="Peluso S" first="Silvio" last="Peluso">Silvio Peluso</name><name sortKey="Simons, Erik J" sort="Simons, Erik J" uniqKey="Simons E" first="Erik J" last="Simons">Erik J. Simons</name><name sortKey="Volpe, Giampiero" sort="Volpe, Giampiero" uniqKey="Volpe G" first="Giampiero" last="Volpe">Giampiero Volpe</name></noCountry><country name="Pays-Bas"><region name="Hollande-Méridionale"><name sortKey="Criscuolo, Chiara" sort="Criscuolo, Chiara" uniqKey="Criscuolo C" first="Chiara" last="Criscuolo">Chiara Criscuolo</name></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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