A common polymorphism in the brain-derived neurotrophic factor gene in patients with adult-onset primary focal and segmental dystonia.
Identifieur interne : 000046 ( PubMed/Curation ); précédent : 000045; suivant : 000047A common polymorphism in the brain-derived neurotrophic factor gene in patients with adult-onset primary focal and segmental dystonia.
Auteurs : Marina. Svetel [Serbie] ; Gordana Djuric ; Ivana Novakovic ; Valerija Dobricic ; Elka Stefanova ; Nikola Kresojevic ; Aleksandra Tomic ; Milena Jankovic ; Igor Petrovic ; Tatjana Pekmezovic ; Vladimir. KosticSource :
- Acta neurologica Belgica ; 2013.
English descriptors
- KwdEn :
- Adult, Age of Onset, Analysis of Variance, Brain-Derived Neurotrophic Factor (genetics), DNA Mutational Analysis, Dystonic Disorders (genetics), Female, Gene Frequency, Genetic Predisposition to Disease (genetics), Genotype, Humans, Male, Methionine (genetics), Middle Aged, Odds Ratio, Parkinson Disease (genetics), Polymorphism, Single Nucleotide (genetics), Valine (genetics).
- MESH :
- chemical , genetics : Brain-Derived Neurotrophic Factor, Methionine, Valine.
- genetics : Dystonic Disorders, Genetic Predisposition to Disease, Parkinson Disease, Polymorphism, Single Nucleotide.
- Adult, Age of Onset, Analysis of Variance, DNA Mutational Analysis, Female, Gene Frequency, Genotype, Humans, Male, Middle Aged, Odds Ratio.
Abstract
Brain-derived neurotrophic factor (BDNF) modulates neuroplasticity. A functional polymorphism [Val66Met (G196A)] in BDNF has been reported to modify cortical plasticity in humans. Physiologic investigations have revealed that dystonia might be a consequence of the pathologic plasticity of the sensorimotor cortex. We aimed to investigate the role of the Val66Met polymorphism in a cohort of Serbian patients with adult-onset primary focal and segmental dystonia (PTD). One hundred and forty-nine patients with primary adult-onset PTD, 194 patients with Parkinson's disease (PD), and 366 healthy control subjects were recruited for the study. Patients with PTD and PD, as well as healthy controls had a similar distribution of genotypes and allele frequencies. There was no any significant difference in the allelic distribution at the Val66Met SNP of the BDNF gene among patients with adult-onset PTD, PD, and healthy volunteers from the same geographic areas. In addition, the presence of the Met allele did not influence the clinical characteristics of PTD patients. Patients with the Met variant did not differ by age at onset, number of affected regions, and efficacy of a sensory trick. Met66Met is not associated with an increased risk of dystonia.
DOI: 10.1007/s13760-013-0183-9
PubMed: 23381842
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Svetel</name><affiliation wicri:level="1"><nlm:affiliation>Clinic of Neurology CCS, School of Medicine, University of Belgrade, Dr. Subotica Starijeg 6, 11000, Belgrade, Serbia. marinasvetel@gmail.com</nlm:affiliation><country xml:lang="fr">Serbie</country><wicri:regionArea>Clinic of Neurology CCS, School of Medicine, University of Belgrade, Dr. Subotica Starijeg 6, 11000, Belgrade</wicri:regionArea></affiliation></author><author><name sortKey="Djuric, Gordana" sort="Djuric, Gordana" uniqKey="Djuric G" first="Gordana" last="Djuric">Gordana Djuric</name></author><author><name sortKey="Novakovic, Ivana" sort="Novakovic, Ivana" uniqKey="Novakovic I" first="Ivana" last="Novakovic">Ivana Novakovic</name></author><author><name sortKey="Dobricic, Valerija" sort="Dobricic, Valerija" uniqKey="Dobricic V" first="Valerija" last="Dobricic">Valerija Dobricic</name></author><author><name sortKey="Stefanova, Elka" sort="Stefanova, Elka" uniqKey="Stefanova E" first="Elka" last="Stefanova">Elka Stefanova</name></author><author><name sortKey="Kresojevic, Nikola" sort="Kresojevic, Nikola" uniqKey="Kresojevic N" first="Nikola" last="Kresojevic">Nikola Kresojevic</name></author><author><name sortKey="Tomic, Aleksandra" sort="Tomic, Aleksandra" uniqKey="Tomic A" first="Aleksandra" last="Tomic">Aleksandra Tomic</name></author><author><name sortKey="Jankovic, Milena" sort="Jankovic, Milena" uniqKey="Jankovic M" first="Milena" last="Jankovic">Milena Jankovic</name></author><author><name sortKey="Petrovic, Igor" sort="Petrovic, Igor" uniqKey="Petrovic I" first="Igor" last="Petrovic">Igor Petrovic</name></author><author><name sortKey="Pekmezovic, Tatjana" sort="Pekmezovic, Tatjana" uniqKey="Pekmezovic T" first="Tatjana" last="Pekmezovic">Tatjana Pekmezovic</name></author><author><name sortKey="Kostic, Vladimir S" sort="Kostic, Vladimir S" uniqKey="Kostic V" first="Vladimir" last="Kostic">Vladimir. Kostic</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2013">2013</date><idno type="doi">10.1007/s13760-013-0183-9</idno><idno type="RBID">pubmed:23381842</idno><idno type="pmid">23381842</idno><idno type="wicri:Area/PubMed/Corpus">000046</idno><idno type="wicri:Area/PubMed/Curation">000046</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">A common polymorphism in the brain-derived neurotrophic factor gene in patients with adult-onset primary focal and segmental dystonia.</title><author><name sortKey="Svetel, Marina V" sort="Svetel, Marina V" uniqKey="Svetel M" first="Marina" last="Svetel">Marina. Svetel</name><affiliation wicri:level="1"><nlm:affiliation>Clinic of Neurology CCS, School of Medicine, University of Belgrade, Dr. Subotica Starijeg 6, 11000, Belgrade, Serbia. marinasvetel@gmail.com</nlm:affiliation><country xml:lang="fr">Serbie</country><wicri:regionArea>Clinic of Neurology CCS, School of Medicine, University of Belgrade, Dr. Subotica Starijeg 6, 11000, Belgrade</wicri:regionArea></affiliation></author><author><name sortKey="Djuric, Gordana" sort="Djuric, Gordana" uniqKey="Djuric G" first="Gordana" last="Djuric">Gordana Djuric</name></author><author><name sortKey="Novakovic, Ivana" sort="Novakovic, Ivana" uniqKey="Novakovic I" first="Ivana" last="Novakovic">Ivana Novakovic</name></author><author><name sortKey="Dobricic, Valerija" sort="Dobricic, Valerija" uniqKey="Dobricic V" first="Valerija" last="Dobricic">Valerija Dobricic</name></author><author><name sortKey="Stefanova, Elka" sort="Stefanova, Elka" uniqKey="Stefanova E" first="Elka" last="Stefanova">Elka Stefanova</name></author><author><name sortKey="Kresojevic, Nikola" sort="Kresojevic, Nikola" uniqKey="Kresojevic N" first="Nikola" last="Kresojevic">Nikola Kresojevic</name></author><author><name sortKey="Tomic, Aleksandra" sort="Tomic, Aleksandra" uniqKey="Tomic A" first="Aleksandra" last="Tomic">Aleksandra Tomic</name></author><author><name sortKey="Jankovic, Milena" sort="Jankovic, Milena" uniqKey="Jankovic M" first="Milena" last="Jankovic">Milena Jankovic</name></author><author><name sortKey="Petrovic, Igor" sort="Petrovic, Igor" uniqKey="Petrovic I" first="Igor" last="Petrovic">Igor Petrovic</name></author><author><name sortKey="Pekmezovic, Tatjana" sort="Pekmezovic, Tatjana" uniqKey="Pekmezovic T" first="Tatjana" last="Pekmezovic">Tatjana Pekmezovic</name></author><author><name sortKey="Kostic, Vladimir S" sort="Kostic, Vladimir S" uniqKey="Kostic V" first="Vladimir" last="Kostic">Vladimir. Kostic</name></author></analytic><series><title level="j">Acta neurologica Belgica</title><idno type="e-ISSN">2240-2993</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>Age of Onset</term><term>Analysis of Variance</term><term>Brain-Derived Neurotrophic Factor (genetics)</term><term>DNA Mutational Analysis</term><term>Dystonic Disorders (genetics)</term><term>Female</term><term>Gene Frequency</term><term>Genetic Predisposition to Disease (genetics)</term><term>Genotype</term><term>Humans</term><term>Male</term><term>Methionine (genetics)</term><term>Middle Aged</term><term>Odds Ratio</term><term>Parkinson Disease (genetics)</term><term>Polymorphism, Single Nucleotide (genetics)</term><term>Valine (genetics)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Brain-Derived Neurotrophic Factor</term><term>Methionine</term><term>Valine</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Dystonic Disorders</term><term>Genetic Predisposition to Disease</term><term>Parkinson Disease</term><term>Polymorphism, Single Nucleotide</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Age of Onset</term><term>Analysis of Variance</term><term>DNA Mutational Analysis</term><term>Female</term><term>Gene Frequency</term><term>Genotype</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Odds Ratio</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Brain-derived neurotrophic factor (BDNF) modulates neuroplasticity. A functional polymorphism [Val66Met (G196A)] in BDNF has been reported to modify cortical plasticity in humans. Physiologic investigations have revealed that dystonia might be a consequence of the pathologic plasticity of the sensorimotor cortex. We aimed to investigate the role of the Val66Met polymorphism in a cohort of Serbian patients with adult-onset primary focal and segmental dystonia (PTD). One hundred and forty-nine patients with primary adult-onset PTD, 194 patients with Parkinson's disease (PD), and 366 healthy control subjects were recruited for the study. Patients with PTD and PD, as well as healthy controls had a similar distribution of genotypes and allele frequencies. There was no any significant difference in the allelic distribution at the Val66Met SNP of the BDNF gene among patients with adult-onset PTD, PD, and healthy volunteers from the same geographic areas. In addition, the presence of the Met allele did not influence the clinical characteristics of PTD patients. Patients with the Met variant did not differ by age at onset, number of affected regions, and efficacy of a sensory trick. Met66Met is not associated with an increased risk of dystonia.</div></front></TEI><pubmed><MedlineCitation Owner="NLM" Status="MEDLINE"><PMID Version="1">23381842</PMID><DateCreated><Year>2013</Year><Month>08</Month><Day>30</Day></DateCreated><DateCompleted><Year>2014</Year><Month>05</Month><Day>07</Day></DateCompleted><Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">2240-2993</ISSN><JournalIssue CitedMedium="Internet"><Volume>113</Volume><Issue>3</Issue><PubDate><Year>2013</Year><Month>Sep</Month></PubDate></JournalIssue><Title>Acta neurologica Belgica</Title><ISOAbbreviation>Acta Neurol Belg</ISOAbbreviation></Journal><ArticleTitle>A common polymorphism in the brain-derived neurotrophic factor gene in patients with adult-onset primary focal and segmental dystonia.</ArticleTitle><Pagination><MedlinePgn>243-5</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1007/s13760-013-0183-9</ELocationID><Abstract><AbstractText>Brain-derived neurotrophic factor (BDNF) modulates neuroplasticity. A functional polymorphism [Val66Met (G196A)] in BDNF has been reported to modify cortical plasticity in humans. Physiologic investigations have revealed that dystonia might be a consequence of the pathologic plasticity of the sensorimotor cortex. We aimed to investigate the role of the Val66Met polymorphism in a cohort of Serbian patients with adult-onset primary focal and segmental dystonia (PTD). One hundred and forty-nine patients with primary adult-onset PTD, 194 patients with Parkinson's disease (PD), and 366 healthy control subjects were recruited for the study. Patients with PTD and PD, as well as healthy controls had a similar distribution of genotypes and allele frequencies. There was no any significant difference in the allelic distribution at the Val66Met SNP of the BDNF gene among patients with adult-onset PTD, PD, and healthy volunteers from the same geographic areas. In addition, the presence of the Met allele did not influence the clinical characteristics of PTD patients. Patients with the Met variant did not differ by age at onset, number of affected regions, and efficacy of a sensory trick. Met66Met is not associated with an increased risk of dystonia.</AbstractText></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Svetel</LastName><ForeName>Marina V</ForeName><Initials>MV</Initials><AffiliationInfo><Affiliation>Clinic of Neurology CCS, School of Medicine, University of Belgrade, Dr. Subotica Starijeg 6, 11000, Belgrade, Serbia. marinasvetel@gmail.com</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Djuric</LastName><ForeName>Gordana</ForeName><Initials>G</Initials></Author><Author ValidYN="Y"><LastName>Novakovic</LastName><ForeName>Ivana</ForeName><Initials>I</Initials></Author><Author ValidYN="Y"><LastName>Dobricic</LastName><ForeName>Valerija</ForeName><Initials>V</Initials></Author><Author ValidYN="Y"><LastName>Stefanova</LastName><ForeName>Elka</ForeName><Initials>E</Initials></Author><Author ValidYN="Y"><LastName>Kresojevic</LastName><ForeName>Nikola</ForeName><Initials>N</Initials></Author><Author ValidYN="Y"><LastName>Tomic</LastName><ForeName>Aleksandra</ForeName><Initials>A</Initials></Author><Author ValidYN="Y"><LastName>Jankovic</LastName><ForeName>Milena</ForeName><Initials>M</Initials></Author><Author ValidYN="Y"><LastName>Petrovic</LastName><ForeName>Igor</ForeName><Initials>I</Initials></Author><Author ValidYN="Y"><LastName>Pekmezovic</LastName><ForeName>Tatjana</ForeName><Initials>T</Initials></Author><Author ValidYN="Y"><LastName>Kostic</LastName><ForeName>Vladimir S</ForeName><Initials>VS</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>2013</Year><Month>02</Month><Day>05</Day></ArticleDate></Article><MedlineJournalInfo><Country>Italy</Country><MedlineTA>Acta Neurol Belg</MedlineTA><NlmUniqueID>0247035</NlmUniqueID><ISSNLinking>0300-9009</ISSNLinking></MedlineJournalInfo><ChemicalList><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D019208">Brain-Derived Neurotrophic Factor</NameOfSubstance></Chemical><Chemical><RegistryNumber>AE28F7PNPL</RegistryNumber><NameOfSubstance UI="D008715">Methionine</NameOfSubstance></Chemical><Chemical><RegistryNumber>HG18B9YRS7</RegistryNumber><NameOfSubstance UI="D014633">Valine</NameOfSubstance></Chemical></ChemicalList><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName MajorTopicYN="N" UI="D000328">Adult</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D017668">Age of Onset</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D000704">Analysis of Variance</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D019208">Brain-Derived Neurotrophic Factor</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D004252">DNA Mutational Analysis</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D020821">Dystonic Disorders</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></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="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" UI="D008297">Male</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D008715">Methionine</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D008875">Middle Aged</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D016017">Odds Ratio</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D010300">Parkinson Disease</DescriptorName><QualifierName MajorTopicYN="N" 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="D014633">Valine</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName></MeshHeading></MeshHeadingList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="received"><Year>2012</Year><Month>8</Month><Day>23</Day></PubMedPubDate><PubMedPubDate PubStatus="accepted"><Year>2013</Year><Month>1</Month><Day>19</Day></PubMedPubDate><PubMedPubDate PubStatus="aheadofprint"><Year>2013</Year><Month>2</Month><Day>5</Day></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2013</Year><Month>2</Month><Day>6</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="pubmed"><Year>2013</Year><Month>2</Month><Day>6</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2014</Year><Month>5</Month><Day>8</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="doi">10.1007/s13760-013-0183-9</ArticleId><ArticleId 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