Neurofilament M gene in a French-Canadian population with Parkinson's disease.
Identifieur interne : 000526 ( Ncbi/Merge ); précédent : 000525; suivant : 000527Neurofilament M gene in a French-Canadian population with Parkinson's disease.
Auteurs : F. Han [Canada] ; D E Bulman ; M. Panisset ; D A GrimesSource :
- The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques [ 0317-1671 ] ; 2005.
Descripteurs français
- Wicri :
- geographic : Canada.
English descriptors
- KwdEn :
- MESH :
- chemical , genetics : Neurofilament Proteins.
- geographic , epidemiology : Canada.
- genetics : Parkinson Disease.
- Aged, DNA Mutational Analysis, Female, Humans, Male, Middle Aged, Mutation, Polymerase Chain Reaction.
Abstract
Recently, a single base pair substitution (G1747A) mutation of the neurofilament M (NF-M) gene was reported in a French-Canadian patient with early onset Parkinson's disease (PD). Three unaffected siblings were found to be heterozygotes for the NF-M Gly336Ser mutation but, to date, no other affected PD individuals have been found with a similar mutation. No other individuals with Parkinson's disease and of similar ethnic background have been screened for this mutation.
PubMed: 15825549
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pubmed:15825549Le document en format XML
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Panisset</name></author><author><name sortKey="Grimes, D A" sort="Grimes, D A" uniqKey="Grimes D" first="D A" last="Grimes">D A Grimes</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2005">2005</date><idno type="RBID">pubmed:15825549</idno><idno type="pmid">15825549</idno><idno type="wicri:Area/PubMed/Corpus">001289</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">001289</idno><idno type="wicri:Area/PubMed/Curation">001289</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Curation">001289</idno><idno type="wicri:Area/PubMed/Checkpoint">001289</idno><idno type="wicri:explorRef" wicri:stream="Checkpoint" wicri:step="PubMed">001289</idno><idno type="wicri:Area/Ncbi/Merge">000526</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Neurofilament M gene in a French-Canadian population with Parkinson's disease.</title><author><name sortKey="Han, F" sort="Han, F" uniqKey="Han F" first="F" last="Han">F. Han</name><affiliation wicri:level="1"><nlm:affiliation>Ottawa Health Research Institute, University of Ottawa, Centre for Neuromuscular Disease, Ottawa, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Ottawa Health Research Institute, University of Ottawa, Centre for Neuromuscular Disease, Ottawa</wicri:regionArea><wicri:noRegion>Ottawa</wicri:noRegion></affiliation></author><author><name sortKey="Bulman, D E" sort="Bulman, D E" uniqKey="Bulman D" first="D E" last="Bulman">D E Bulman</name></author><author><name sortKey="Panisset, M" sort="Panisset, M" uniqKey="Panisset M" first="M" last="Panisset">M. Panisset</name></author><author><name sortKey="Grimes, D A" sort="Grimes, D A" uniqKey="Grimes D" first="D A" last="Grimes">D A Grimes</name></author></analytic><series><title level="j">The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques</title><idno type="ISSN">0317-1671</idno><imprint><date when="2005" type="published">2005</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Aged</term><term>Canada (epidemiology)</term><term>DNA Mutational Analysis</term><term>Female</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Mutation</term><term>Neurofilament Proteins (genetics)</term><term>Parkinson Disease (genetics)</term><term>Polymerase Chain Reaction</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Neurofilament Proteins</term></keywords><keywords scheme="MESH" type="geographic" qualifier="epidemiology" xml:lang="en"><term>Canada</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Parkinson Disease</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Aged</term><term>DNA Mutational Analysis</term><term>Female</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Mutation</term><term>Polymerase Chain Reaction</term></keywords><keywords scheme="Wicri" type="geographic" xml:lang="fr"><term>Canada</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Recently, a single base pair substitution (G1747A) mutation of the neurofilament M (NF-M) gene was reported in a French-Canadian patient with early onset Parkinson's disease (PD). Three unaffected siblings were found to be heterozygotes for the NF-M Gly336Ser mutation but, to date, no other affected PD individuals have been found with a similar mutation. No other individuals with Parkinson's disease and of similar ethnic background have been screened for this mutation.</div></front></TEI><pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">15825549</PMID><DateCreated><Year>2005</Year><Month>04</Month><Day>13</Day></DateCreated><DateCompleted><Year>2005</Year><Month>05</Month><Day>13</Day></DateCompleted><DateRevised><Year>2006</Year><Month>11</Month><Day>15</Day></DateRevised><Article PubModel="Print"><Journal><ISSN IssnType="Print">0317-1671</ISSN><JournalIssue CitedMedium="Print"><Volume>32</Volume><Issue>1</Issue><PubDate><Year>2005</Year><Month>Feb</Month></PubDate></JournalIssue><Title>The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques</Title><ISOAbbreviation>Can J Neurol Sci</ISOAbbreviation></Journal><ArticleTitle>Neurofilament M gene in a French-Canadian population with Parkinson's disease.</ArticleTitle><Pagination><MedlinePgn>68-70</MedlinePgn></Pagination><Abstract><AbstractText Label="BACKGROUND" NlmCategory="BACKGROUND">Recently, a single base pair substitution (G1747A) mutation of the neurofilament M (NF-M) gene was reported in a French-Canadian patient with early onset Parkinson's disease (PD). Three unaffected siblings were found to be heterozygotes for the NF-M Gly336Ser mutation but, to date, no other affected PD individuals have been found with a similar mutation. No other individuals with Parkinson's disease and of similar ethnic background have been screened for this mutation.</AbstractText><AbstractText Label="METHODS" NlmCategory="METHODS">We screened 102 French-Canadian patients with definite PD and 45 French-Canadian controls for this substitution in the NF-M gene using a PCR-restriction enzyme digestion method.</AbstractText><AbstractText Label="RESULTS" NlmCategory="RESULTS">None of the patients or controls carried this mutation.</AbstractText><AbstractText Label="CONCLUSION" NlmCategory="CONCLUSIONS">Our results would indicate that this mutation is not common even in a PD population of similar ethnic background and suggest this change represents a rare variant. However, these results do not exclude the possibility that other mutations in this gene could be present.</AbstractText></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Han</LastName><ForeName>F</ForeName><Initials>F</Initials><AffiliationInfo><Affiliation>Ottawa Health Research Institute, University of Ottawa, Centre for Neuromuscular Disease, Ottawa, Canada.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Bulman</LastName><ForeName>D E</ForeName><Initials>DE</Initials></Author><Author ValidYN="Y"><LastName>Panisset</LastName><ForeName>M</ForeName><Initials>M</Initials></Author><Author ValidYN="Y"><LastName>Grimes</LastName><ForeName>D A</ForeName><Initials>DA</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>England</Country><MedlineTA>Can J Neurol Sci</MedlineTA><NlmUniqueID>0415227</NlmUniqueID><ISSNLinking>0317-1671</ISSNLinking></MedlineJournalInfo><ChemicalList><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D016900">Neurofilament Proteins</NameOfSubstance></Chemical><Chemical><RegistryNumber>111365-29-8</RegistryNumber><NameOfSubstance UI="C061195">neurofilament protein M</NameOfSubstance></Chemical></ChemicalList><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName UI="D000368" MajorTopicYN="N">Aged</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D002170" MajorTopicYN="N" Type="Geographic">Canada</DescriptorName><QualifierName UI="Q000453" MajorTopicYN="N">epidemiology</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D004252" MajorTopicYN="N">DNA Mutational Analysis</DescriptorName></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="D009154" MajorTopicYN="N">Mutation</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D016900" MajorTopicYN="N">Neurofilament Proteins</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D010300" MajorTopicYN="N">Parkinson Disease</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D016133" MajorTopicYN="N">Polymerase Chain Reaction</DescriptorName></MeshHeading></MeshHeadingList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="pubmed"><Year>2005</Year><Month>4</Month><Day>14</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2005</Year><Month>5</Month><Day>14</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2005</Year><Month>4</Month><Day>14</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">15825549</ArticleId></ArticleIdList></PubmedData></pubmed><affiliations><list><country><li>Canada</li></country></list><tree><noCountry><name sortKey="Bulman, D E" sort="Bulman, D E" uniqKey="Bulman D" first="D E" last="Bulman">D E Bulman</name><name sortKey="Grimes, D A" sort="Grimes, D A" uniqKey="Grimes D" first="D A" last="Grimes">D A Grimes</name><name sortKey="Panisset, M" sort="Panisset, M" uniqKey="Panisset M" first="M" last="Panisset">M. Panisset</name></noCountry><country name="Canada"><noRegion><name sortKey="Han, F" sort="Han, F" uniqKey="Han F" first="F" last="Han">F. Han</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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