Analysis of the PINK1 gene in a large cohort of cases with Parkinson disease.
Identifieur interne : 001313 ( PubMed/Corpus ); précédent : 001312; suivant : 001314Analysis of the PINK1 gene in a large cohort of cases with Parkinson disease.
Auteurs : Ekaterina Rogaeva ; Janel Johnson ; Anthony E. Lang ; Cindy Gulick ; Katrina Gwinn-Hardy ; Toshitaka Kawarai ; Christine Sato ; Angharad Morgan ; John Werner ; Robert Nussbaum ; Agnes Petit ; Michael S. Okun ; Aideen Mcinerney ; Ronald Mandel ; Justus L. Groen ; Hubert H. Fernandez ; Ron Postuma ; Kelly D. Foote ; Shabnam Salehi-Rad ; Yan Liang ; Sharon Reimsnider ; Anurag Tandon ; John Hardy ; Peter St George-Hyslop ; Andrew B. SingletonSource :
- Archives of neurology [ 0003-9942 ] ; 2004.
English descriptors
- KwdEn :
- MESH :
- chemical , genetics : Protein Kinases.
- genetics : Gene Frequency, Genetic Linkage, Parkinson Disease.
- Adolescent, Adult, Aged, Amino Acid Sequence, Cohort Studies, Female, Humans, Male, Middle Aged, Molecular Sequence Data, Pedigree.
Abstract
Mutations in the PTEN-induced kinase (PINK1) gene located within the PARK6 locus on chromosome 1p35-p36 have recently been identified in patients with recessive early-onset Parkinson disease.
DOI: 10.1001/archneur.61.12.1898
PubMed: 15596610
Links to Exploration step
pubmed:15596610Le document en format XML
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Lang</name></author><author><name sortKey="Gulick, Cindy" sort="Gulick, Cindy" uniqKey="Gulick C" first="Cindy" last="Gulick">Cindy Gulick</name></author><author><name sortKey="Gwinn Hardy, Katrina" sort="Gwinn Hardy, Katrina" uniqKey="Gwinn Hardy K" first="Katrina" last="Gwinn-Hardy">Katrina Gwinn-Hardy</name></author><author><name sortKey="Kawarai, Toshitaka" sort="Kawarai, Toshitaka" uniqKey="Kawarai T" first="Toshitaka" last="Kawarai">Toshitaka Kawarai</name></author><author><name sortKey="Sato, Christine" sort="Sato, Christine" uniqKey="Sato C" first="Christine" last="Sato">Christine Sato</name></author><author><name sortKey="Morgan, Angharad" sort="Morgan, Angharad" uniqKey="Morgan A" first="Angharad" last="Morgan">Angharad Morgan</name></author><author><name sortKey="Werner, John" sort="Werner, John" uniqKey="Werner J" first="John" last="Werner">John Werner</name></author><author><name sortKey="Nussbaum, Robert" sort="Nussbaum, Robert" uniqKey="Nussbaum R" first="Robert" last="Nussbaum">Robert Nussbaum</name></author><author><name sortKey="Petit, Agnes" sort="Petit, Agnes" uniqKey="Petit A" first="Agnes" last="Petit">Agnes Petit</name></author><author><name sortKey="Okun, Michael S" sort="Okun, Michael S" uniqKey="Okun M" first="Michael S" last="Okun">Michael S. 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Singleton</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2004">2004</date><idno type="RBID">pubmed:15596610</idno><idno type="pmid">15596610</idno><idno type="doi">10.1001/archneur.61.12.1898</idno><idno type="wicri:Area/PubMed/Corpus">001313</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">001313</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Analysis of the PINK1 gene in a large cohort of cases with Parkinson disease.</title><author><name sortKey="Rogaeva, Ekaterina" sort="Rogaeva, Ekaterina" uniqKey="Rogaeva E" first="Ekaterina" last="Rogaeva">Ekaterina Rogaeva</name><affiliation><nlm:affiliation>Centre for Research in Neurodegenerative Diseases and Division of Neurology, Department of Medicine, Toronto Western Hospital, University of Toronto, Ontario, Canada.</nlm:affiliation></affiliation></author><author><name sortKey="Johnson, Janel" sort="Johnson, Janel" uniqKey="Johnson J" first="Janel" last="Johnson">Janel Johnson</name></author><author><name sortKey="Lang, Anthony E" sort="Lang, Anthony E" uniqKey="Lang A" first="Anthony E" last="Lang">Anthony E. Lang</name></author><author><name sortKey="Gulick, Cindy" sort="Gulick, Cindy" uniqKey="Gulick C" first="Cindy" last="Gulick">Cindy Gulick</name></author><author><name sortKey="Gwinn Hardy, Katrina" sort="Gwinn Hardy, Katrina" uniqKey="Gwinn Hardy K" first="Katrina" last="Gwinn-Hardy">Katrina Gwinn-Hardy</name></author><author><name sortKey="Kawarai, Toshitaka" sort="Kawarai, Toshitaka" uniqKey="Kawarai T" first="Toshitaka" last="Kawarai">Toshitaka Kawarai</name></author><author><name sortKey="Sato, Christine" sort="Sato, Christine" uniqKey="Sato C" first="Christine" last="Sato">Christine Sato</name></author><author><name sortKey="Morgan, Angharad" sort="Morgan, Angharad" uniqKey="Morgan A" first="Angharad" last="Morgan">Angharad Morgan</name></author><author><name sortKey="Werner, John" sort="Werner, John" uniqKey="Werner J" first="John" last="Werner">John Werner</name></author><author><name sortKey="Nussbaum, Robert" sort="Nussbaum, Robert" uniqKey="Nussbaum R" first="Robert" last="Nussbaum">Robert Nussbaum</name></author><author><name sortKey="Petit, Agnes" sort="Petit, Agnes" uniqKey="Petit A" first="Agnes" last="Petit">Agnes Petit</name></author><author><name sortKey="Okun, Michael S" sort="Okun, Michael S" uniqKey="Okun M" first="Michael S" last="Okun">Michael S. Okun</name></author><author><name sortKey="Mcinerney, Aideen" sort="Mcinerney, Aideen" uniqKey="Mcinerney A" first="Aideen" last="Mcinerney">Aideen Mcinerney</name></author><author><name sortKey="Mandel, Ronald" sort="Mandel, Ronald" uniqKey="Mandel R" first="Ronald" last="Mandel">Ronald Mandel</name></author><author><name sortKey="Groen, Justus L" sort="Groen, Justus L" uniqKey="Groen J" first="Justus L" last="Groen">Justus L. Groen</name></author><author><name sortKey="Fernandez, Hubert H" sort="Fernandez, Hubert H" uniqKey="Fernandez H" first="Hubert H" last="Fernandez">Hubert H. Fernandez</name></author><author><name sortKey="Postuma, Ron" sort="Postuma, Ron" uniqKey="Postuma R" first="Ron" last="Postuma">Ron Postuma</name></author><author><name sortKey="Foote, Kelly D" sort="Foote, Kelly D" uniqKey="Foote K" first="Kelly D" last="Foote">Kelly D. Foote</name></author><author><name sortKey="Salehi Rad, Shabnam" sort="Salehi Rad, Shabnam" uniqKey="Salehi Rad S" first="Shabnam" last="Salehi-Rad">Shabnam Salehi-Rad</name></author><author><name sortKey="Liang, Yan" sort="Liang, Yan" uniqKey="Liang Y" first="Yan" last="Liang">Yan Liang</name></author><author><name sortKey="Reimsnider, Sharon" sort="Reimsnider, Sharon" uniqKey="Reimsnider S" first="Sharon" last="Reimsnider">Sharon Reimsnider</name></author><author><name sortKey="Tandon, Anurag" sort="Tandon, Anurag" uniqKey="Tandon A" first="Anurag" last="Tandon">Anurag Tandon</name></author><author><name sortKey="Hardy, John" sort="Hardy, John" uniqKey="Hardy J" first="John" last="Hardy">John Hardy</name></author><author><name sortKey="St George Hyslop, Peter" sort="St George Hyslop, Peter" uniqKey="St George Hyslop P" first="Peter" last="St George-Hyslop">Peter St George-Hyslop</name></author><author><name sortKey="Singleton, Andrew B" sort="Singleton, Andrew B" uniqKey="Singleton A" first="Andrew B" last="Singleton">Andrew B. Singleton</name></author></analytic><series><title level="j">Archives of neurology</title><idno type="ISSN">0003-9942</idno><imprint><date when="2004" type="published">2004</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Aged</term><term>Amino Acid Sequence</term><term>Cohort Studies</term><term>Female</term><term>Gene Frequency (genetics)</term><term>Genetic Linkage (genetics)</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Molecular Sequence Data</term><term>Parkinson Disease (genetics)</term><term>Pedigree</term><term>Protein Kinases (genetics)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Protein Kinases</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Gene Frequency</term><term>Genetic Linkage</term><term>Parkinson Disease</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Aged</term><term>Amino Acid Sequence</term><term>Cohort Studies</term><term>Female</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Molecular Sequence Data</term><term>Pedigree</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Mutations in the PTEN-induced kinase (PINK1) gene located within the PARK6 locus on chromosome 1p35-p36 have recently been identified in patients with recessive early-onset Parkinson disease.</div></front></TEI><pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">15596610</PMID><DateCreated><Year>2004</Year><Month>12</Month><Day>14</Day></DateCreated><DateCompleted><Year>2005</Year><Month>01</Month><Day>11</Day></DateCompleted><DateRevised><Year>2012</Year><Month>06</Month><Day>19</Day></DateRevised><Article PubModel="Print"><Journal><ISSN IssnType="Print">0003-9942</ISSN><JournalIssue CitedMedium="Print"><Volume>61</Volume><Issue>12</Issue><PubDate><Year>2004</Year><Month>Dec</Month></PubDate></JournalIssue><Title>Archives of neurology</Title><ISOAbbreviation>Arch. Neurol.</ISOAbbreviation></Journal><ArticleTitle>Analysis of the PINK1 gene in a large cohort of cases with Parkinson disease.</ArticleTitle><Pagination><MedlinePgn>1898-904</MedlinePgn></Pagination><Abstract><AbstractText Label="BACKGROUND" NlmCategory="BACKGROUND">Mutations in the PTEN-induced kinase (PINK1) gene located within the PARK6 locus on chromosome 1p35-p36 have recently been identified in patients with recessive early-onset Parkinson disease.</AbstractText><AbstractText Label="OBJECTIVE" NlmCategory="OBJECTIVE">To assess the prevalence of PINK1 mutations within a series of early- and late-onset Parkinson disease patients living in North America.</AbstractText><AbstractText Label="DESIGN" NlmCategory="METHODS">All coding exons of the PINK1 gene were sequenced in a series of 289 Parkinson disease patients and 80 neurologically normal control subjects; the mutation frequencies were evaluated in additional controls (100 white and 50 Filipino subjects).</AbstractText><AbstractText Label="RESULTS" NlmCategory="RESULTS">We identified 27 variants, including the first reported compound heterozygous mutation (Glu240Lys and Leu489Pro) and a homozygous Leu347Pro mutation in 2 unrelated young-onset Parkinson disease patients.</AbstractText><AbstractText Label="CONCLUSION" NlmCategory="CONCLUSIONS">Autosomal recessive mutations in PINK1 are a rare cause of young-onset Parkinson disease.</AbstractText></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Rogaeva</LastName><ForeName>Ekaterina</ForeName><Initials>E</Initials><AffiliationInfo><Affiliation>Centre for Research in Neurodegenerative Diseases and Division of Neurology, Department of Medicine, Toronto Western Hospital, University of Toronto, Ontario, Canada.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Johnson</LastName><ForeName>Janel</ForeName><Initials>J</Initials></Author><Author ValidYN="Y"><LastName>Lang</LastName><ForeName>Anthony E</ForeName><Initials>AE</Initials></Author><Author ValidYN="Y"><LastName>Gulick</LastName><ForeName>Cindy</ForeName><Initials>C</Initials></Author><Author ValidYN="Y"><LastName>Gwinn-Hardy</LastName><ForeName>Katrina</ForeName><Initials>K</Initials></Author><Author ValidYN="Y"><LastName>Kawarai</LastName><ForeName>Toshitaka</ForeName><Initials>T</Initials></Author><Author ValidYN="Y"><LastName>Sato</LastName><ForeName>Christine</ForeName><Initials>C</Initials></Author><Author ValidYN="Y"><LastName>Morgan</LastName><ForeName>Angharad</ForeName><Initials>A</Initials></Author><Author ValidYN="Y"><LastName>Werner</LastName><ForeName>John</ForeName><Initials>J</Initials></Author><Author ValidYN="Y"><LastName>Nussbaum</LastName><ForeName>Robert</ForeName><Initials>R</Initials></Author><Author ValidYN="Y"><LastName>Petit</LastName><ForeName>Agnes</ForeName><Initials>A</Initials></Author><Author ValidYN="Y"><LastName>Okun</LastName><ForeName>Michael S</ForeName><Initials>MS</Initials></Author><Author ValidYN="Y"><LastName>McInerney</LastName><ForeName>Aideen</ForeName><Initials>A</Initials></Author><Author ValidYN="Y"><LastName>Mandel</LastName><ForeName>Ronald</ForeName><Initials>R</Initials></Author><Author ValidYN="Y"><LastName>Groen</LastName><ForeName>Justus L</ForeName><Initials>JL</Initials></Author><Author ValidYN="Y"><LastName>Fernandez</LastName><ForeName>Hubert H</ForeName><Initials>HH</Initials></Author><Author ValidYN="Y"><LastName>Postuma</LastName><ForeName>Ron</ForeName><Initials>R</Initials></Author><Author ValidYN="Y"><LastName>Foote</LastName><ForeName>Kelly D</ForeName><Initials>KD</Initials></Author><Author ValidYN="Y"><LastName>Salehi-Rad</LastName><ForeName>Shabnam</ForeName><Initials>S</Initials></Author><Author ValidYN="Y"><LastName>Liang</LastName><ForeName>Yan</ForeName><Initials>Y</Initials></Author><Author ValidYN="Y"><LastName>Reimsnider</LastName><ForeName>Sharon</ForeName><Initials>S</Initials></Author><Author ValidYN="Y"><LastName>Tandon</LastName><ForeName>Anurag</ForeName><Initials>A</Initials></Author><Author ValidYN="Y"><LastName>Hardy</LastName><ForeName>John</ForeName><Initials>J</Initials></Author><Author ValidYN="Y"><LastName>St George-Hyslop</LastName><ForeName>Peter</ForeName><Initials>P</Initials></Author><Author ValidYN="Y"><LastName>Singleton</LastName><ForeName>Andrew B</ForeName><Initials>AB</Initials></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D003160">Comparative Study</PublicationType><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D013485">Research Support, Non-U.S. Gov't</PublicationType><PublicationType UI="D013487">Research Support, U.S. Gov't, P.H.S.</PublicationType></PublicationTypeList></Article><MedlineJournalInfo><Country>United States</Country><MedlineTA>Arch Neurol</MedlineTA><NlmUniqueID>0372436</NlmUniqueID><ISSNLinking>0003-9942</ISSNLinking></MedlineJournalInfo><ChemicalList><Chemical><RegistryNumber>EC 2.7.-</RegistryNumber><NameOfSubstance UI="D011494">Protein Kinases</NameOfSubstance></Chemical><Chemical><RegistryNumber>EC 2.7.11.1</RegistryNumber><NameOfSubstance UI="C433927">PTEN-induced putative kinase</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="D000595" MajorTopicYN="N">Amino Acid Sequence</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D015331" MajorTopicYN="N">Cohort Studies</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D005260" MajorTopicYN="N">Female</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D005787" MajorTopicYN="N">Gene Frequency</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D008040" MajorTopicYN="N">Genetic Linkage</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D006801" MajorTopicYN="N">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D008297" MajorTopicYN="N">Male</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D008875" MajorTopicYN="N">Middle Aged</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D008969" MajorTopicYN="N">Molecular Sequence Data</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D010300" MajorTopicYN="N">Parkinson Disease</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D010375" MajorTopicYN="N">Pedigree</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D011494" MajorTopicYN="N">Protein Kinases</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading></MeshHeadingList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="pubmed"><Year>2004</Year><Month>12</Month><Day>15</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2005</Year><Month>1</Month><Day>12</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2004</Year><Month>12</Month><Day>15</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">15596610</ArticleId><ArticleId IdType="pii">61/12/1898</ArticleId><ArticleId IdType="doi">10.1001/archneur.61.12.1898</ArticleId></ArticleIdList></PubmedData></pubmed></record>Pour manipuler ce document sous Unix (Dilib)
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