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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<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>
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<author><name sortKey="Bulman, D E" sort="Bulman, D E" uniqKey="Bulman D" first="D E" last="Bulman">D E Bulman</name>
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<author><name sortKey="Panisset, M" sort="Panisset, M" uniqKey="Panisset M" first="M" last="Panisset">M. Panisset</name>
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<author><name sortKey="Grimes, D A" sort="Grimes, D A" uniqKey="Grimes D" first="D A" last="Grimes">D A Grimes</name>
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<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>
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<author><name sortKey="Grimes, D A" sort="Grimes, D A" uniqKey="Grimes D" first="D A" last="Grimes">D A Grimes</name>
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<series><title level="j">The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques</title>
<idno type="ISSN">0317-1671</idno>
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<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>
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<keywords scheme="MESH" type="geographic" qualifier="epidemiology" xml:lang="en"><term>Canada</term>
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<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Parkinson Disease</term>
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<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>
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<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>
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<Author ValidYN="Y"><LastName>Panisset</LastName>
<ForeName>M</ForeName>
<Initials>M</Initials>
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<Author ValidYN="Y"><LastName>Grimes</LastName>
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<MedlineJournalInfo><Country>England</Country>
<MedlineTA>Can J Neurol Sci</MedlineTA>
<NlmUniqueID>0415227</NlmUniqueID>
<ISSNLinking>0317-1671</ISSNLinking>
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<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>
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<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>
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<MeshHeading><DescriptorName UI="D005260" MajorTopicYN="N">Female</DescriptorName>
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<MeshHeading><DescriptorName UI="D006801" MajorTopicYN="N">Humans</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D008297" MajorTopicYN="N">Male</DescriptorName>
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<MeshHeading><DescriptorName UI="D008875" MajorTopicYN="N">Middle Aged</DescriptorName>
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<MeshHeading><DescriptorName UI="D009154" MajorTopicYN="N">Mutation</DescriptorName>
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<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>
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