Investigation of C9orf72 repeat expansions in Parkinson's disease.
Identifieur interne : 000905 ( PubMed/Checkpoint ); précédent : 000904; suivant : 000906Investigation of C9orf72 repeat expansions in Parkinson's disease.
Auteurs : Hussein Daoud [Canada] ; Anne Noreau ; Daniel Rochefort ; Gabriel Paquin-Lanthier ; Maude Turcotte Gauthier ; Pierre Provencher ; Emmanuelle Pourcher ; Nicolas Dupré ; Sylvain Chouinard ; Nicolas Jodoin ; Valérie Soland ; Edward A. Fon ; Patrick A. Dion ; Guy A. RouleauSource :
- Neurobiology of aging [ 1558-1497 ] ; 2013.
Descripteurs français
- Wicri :
- geographic : Canada.
English descriptors
- KwdEn :
- MESH :
- chemical , genetics : Proteins.
- geographic , epidemiology : Canada.
- diagnosis : Parkinson Disease.
- epidemiology : Parkinson Disease.
- genetics : DNA Repeat Expansion, Parkinson Disease.
- Adult, Aged, Aged, 80 and over, Cohort Studies, Female, Humans, Male, Middle Aged, Young Adult.
Abstract
Large repeat expansions in the C9orf72 gene were recently reported to be a major cause of familial amyotrophic lateral sclerosis and frontotemporal dementia. Given some of the clinical and pathologic overlap between these 2 diseases and Parkinson's disease, we sought to evaluate the presence of these expansions in a cohort of French-Canadian patients with Parkinson's disease. No pathologic expansion was found in our cohort of patients suggesting that C9orf72 repeat expansions do not play a major role in the pathogenesis of Parkinson's disease.
DOI: 10.1016/j.neurobiolaging.2012.11.025
PubMed: 23273600
Affiliations:
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Fon</name></author><author><name sortKey="Dion, Patrick A" sort="Dion, Patrick A" uniqKey="Dion P" first="Patrick A" last="Dion">Patrick A. Dion</name></author><author><name sortKey="Rouleau, Guy A" sort="Rouleau, Guy A" uniqKey="Rouleau G" first="Guy A" last="Rouleau">Guy A. Rouleau</name></author></analytic><series><title level="j">Neurobiology of aging</title><idno type="eISSN">1558-1497</idno><imprint><date when="2013" type="published">2013</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Aged</term><term>Aged, 80 and over</term><term>Canada (epidemiology)</term><term>Cohort Studies</term><term>DNA Repeat Expansion (genetics)</term><term>Female</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Parkinson Disease (diagnosis)</term><term>Parkinson Disease (epidemiology)</term><term>Parkinson Disease (genetics)</term><term>Proteins (genetics)</term><term>Young Adult</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Proteins</term></keywords><keywords scheme="MESH" type="geographic" qualifier="epidemiology" xml:lang="en"><term>Canada</term></keywords><keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Parkinson Disease</term></keywords><keywords scheme="MESH" qualifier="epidemiology" xml:lang="en"><term>Parkinson Disease</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>DNA Repeat Expansion</term><term>Parkinson Disease</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Aged</term><term>Aged, 80 and over</term><term>Cohort Studies</term><term>Female</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Young Adult</term></keywords><keywords scheme="Wicri" type="geographic" xml:lang="fr"><term>Canada</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Large repeat expansions in the C9orf72 gene were recently reported to be a major cause of familial amyotrophic lateral sclerosis and frontotemporal dementia. Given some of the clinical and pathologic overlap between these 2 diseases and Parkinson's disease, we sought to evaluate the presence of these expansions in a cohort of French-Canadian patients with Parkinson's disease. No pathologic expansion was found in our cohort of patients suggesting that C9orf72 repeat expansions do not play a major role in the pathogenesis of Parkinson's disease.</div></front></TEI><pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">23273600</PMID><DateCreated><Year>2013</Year><Month>03</Month><Day>13</Day></DateCreated><DateCompleted><Year>2013</Year><Month>12</Month><Day>11</Day></DateCompleted><DateRevised><Year>2013</Year><Month>03</Month><Day>13</Day></DateRevised><Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1558-1497</ISSN><JournalIssue CitedMedium="Internet"><Volume>34</Volume><Issue>6</Issue><PubDate><Year>2013</Year><Month>Jun</Month></PubDate></JournalIssue><Title>Neurobiology of aging</Title><ISOAbbreviation>Neurobiol. Aging</ISOAbbreviation></Journal><ArticleTitle>Investigation of C9orf72 repeat expansions in Parkinson's disease.</ArticleTitle><Pagination><MedlinePgn>1710.e7-9</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1016/j.neurobiolaging.2012.11.025</ELocationID><ELocationID EIdType="pii" ValidYN="Y">S0197-4580(12)00613-6</ELocationID><Abstract><AbstractText>Large repeat expansions in the C9orf72 gene were recently reported to be a major cause of familial amyotrophic lateral sclerosis and frontotemporal dementia. Given some of the clinical and pathologic overlap between these 2 diseases and Parkinson's disease, we sought to evaluate the presence of these expansions in a cohort of French-Canadian patients with Parkinson's disease. No pathologic expansion was found in our cohort of patients suggesting that C9orf72 repeat expansions do not play a major role in the pathogenesis of Parkinson's disease.</AbstractText><CopyrightInformation>Copyright © 2013 Elsevier Inc. All rights reserved.</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Daoud</LastName><ForeName>Hussein</ForeName><Initials>H</Initials><AffiliationInfo><Affiliation>Centre of Excellence in Neuroscience of Université de Montréal (CENUM), CHUM Research Center and the Department of Medicine, Montreal, Quebec, Canada.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Noreau</LastName><ForeName>Anne</ForeName><Initials>A</Initials></Author><Author ValidYN="Y"><LastName>Rochefort</LastName><ForeName>Daniel</ForeName><Initials>D</Initials></Author><Author ValidYN="Y"><LastName>Paquin-Lanthier</LastName><ForeName>Gabriel</ForeName><Initials>G</Initials></Author><Author ValidYN="Y"><LastName>Gauthier</LastName><ForeName>Maude Turcotte</ForeName><Initials>MT</Initials></Author><Author ValidYN="Y"><LastName>Provencher</LastName><ForeName>Pierre</ForeName><Initials>P</Initials></Author><Author ValidYN="Y"><LastName>Pourcher</LastName><ForeName>Emmanuelle</ForeName><Initials>E</Initials></Author><Author ValidYN="Y"><LastName>Dupré</LastName><ForeName>Nicolas</ForeName><Initials>N</Initials></Author><Author ValidYN="Y"><LastName>Chouinard</LastName><ForeName>Sylvain</ForeName><Initials>S</Initials></Author><Author ValidYN="Y"><LastName>Jodoin</LastName><ForeName>Nicolas</ForeName><Initials>N</Initials></Author><Author ValidYN="Y"><LastName>Soland</LastName><ForeName>Valérie</ForeName><Initials>V</Initials></Author><Author ValidYN="Y"><LastName>Fon</LastName><ForeName>Edward A</ForeName><Initials>EA</Initials></Author><Author ValidYN="Y"><LastName>Dion</LastName><ForeName>Patrick A</ForeName><Initials>PA</Initials></Author><Author ValidYN="Y"><LastName>Rouleau</LastName><ForeName>Guy A</ForeName><Initials>GA</Initials></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType></PublicationTypeList><ArticleDate DateType="Electronic"><Year>2012</Year><Month>12</Month><Day>27</Day></ArticleDate></Article><MedlineJournalInfo><Country>United States</Country><MedlineTA>Neurobiol Aging</MedlineTA><NlmUniqueID>8100437</NlmUniqueID><ISSNLinking>0197-4580</ISSNLinking></MedlineJournalInfo><ChemicalList><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="C568651">C9orf72 protein, human</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D011506">Proteins</NameOfSubstance></Chemical></ChemicalList><CitationSubset>IM</CitationSubset><MeshHeadingList><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="D002170" MajorTopicYN="N" Type="Geographic">Canada</DescriptorName><QualifierName UI="Q000453" MajorTopicYN="N">epidemiology</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D015331" MajorTopicYN="N">Cohort Studies</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D042622" MajorTopicYN="N">DNA Repeat Expansion</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D005260" MajorTopicYN="N">Female</DescriptorName></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="D010300" MajorTopicYN="N">Parkinson Disease</DescriptorName><QualifierName UI="Q000175" MajorTopicYN="Y">diagnosis</QualifierName><QualifierName UI="Q000453" MajorTopicYN="N">epidemiology</QualifierName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D011506" MajorTopicYN="N">Proteins</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D055815" MajorTopicYN="N">Young Adult</DescriptorName></MeshHeading></MeshHeadingList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="received"><Year>2012</Year><Month>11</Month><Day>21</Day></PubMedPubDate><PubMedPubDate PubStatus="revised"><Year>2012</Year><Month>11</Month><Day>26</Day></PubMedPubDate><PubMedPubDate PubStatus="accepted"><Year>2012</Year><Month>11</Month><Day>30</Day></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2013</Year><Month>1</Month><Day>1</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="pubmed"><Year>2013</Year><Month>1</Month><Day>1</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2013</Year><Month>12</Month><Day>16</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">23273600</ArticleId><ArticleId IdType="pii">S0197-4580(12)00613-6</ArticleId><ArticleId IdType="doi">10.1016/j.neurobiolaging.2012.11.025</ArticleId></ArticleIdList></PubmedData></pubmed><affiliations><list><country><li>Canada</li></country></list><tree><noCountry><name sortKey="Chouinard, Sylvain" sort="Chouinard, Sylvain" uniqKey="Chouinard S" first="Sylvain" last="Chouinard">Sylvain Chouinard</name><name sortKey="Dion, Patrick A" sort="Dion, Patrick A" uniqKey="Dion P" first="Patrick A" last="Dion">Patrick A. Dion</name><name sortKey="Dupre, Nicolas" sort="Dupre, Nicolas" uniqKey="Dupre N" first="Nicolas" last="Dupré">Nicolas Dupré</name><name sortKey="Fon, Edward A" sort="Fon, Edward A" uniqKey="Fon E" first="Edward A" last="Fon">Edward A. Fon</name><name sortKey="Gauthier, Maude Turcotte" sort="Gauthier, Maude Turcotte" uniqKey="Gauthier M" first="Maude Turcotte" last="Gauthier">Maude Turcotte Gauthier</name><name sortKey="Jodoin, Nicolas" sort="Jodoin, Nicolas" uniqKey="Jodoin N" first="Nicolas" last="Jodoin">Nicolas Jodoin</name><name sortKey="Noreau, Anne" sort="Noreau, Anne" uniqKey="Noreau A" first="Anne" last="Noreau">Anne Noreau</name><name sortKey="Paquin Lanthier, Gabriel" sort="Paquin Lanthier, Gabriel" uniqKey="Paquin Lanthier G" first="Gabriel" last="Paquin-Lanthier">Gabriel Paquin-Lanthier</name><name sortKey="Pourcher, Emmanuelle" sort="Pourcher, Emmanuelle" uniqKey="Pourcher E" first="Emmanuelle" last="Pourcher">Emmanuelle Pourcher</name><name sortKey="Provencher, Pierre" sort="Provencher, Pierre" uniqKey="Provencher P" first="Pierre" last="Provencher">Pierre Provencher</name><name sortKey="Rochefort, Daniel" sort="Rochefort, Daniel" uniqKey="Rochefort D" first="Daniel" last="Rochefort">Daniel Rochefort</name><name sortKey="Rouleau, Guy A" sort="Rouleau, Guy A" uniqKey="Rouleau G" first="Guy A" last="Rouleau">Guy A. Rouleau</name><name sortKey="Soland, Valerie" sort="Soland, Valerie" uniqKey="Soland V" first="Valérie" last="Soland">Valérie Soland</name></noCountry><country name="Canada"><noRegion><name sortKey="Daoud, Hussein" sort="Daoud, Hussein" uniqKey="Daoud H" first="Hussein" last="Daoud">Hussein Daoud</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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