Abnormal premotor-motor interaction in heterozygous Parkin- and Pink1 mutation carriers.
Identifieur interne : 000086 ( PubMed/Corpus ); précédent : 000085; suivant : 000087Abnormal premotor-motor interaction in heterozygous Parkin- and Pink1 mutation carriers.
Auteurs : Anne Weissbach ; Tobias B Umer ; Peter P. Pramstaller ; Norbert Brüggemann ; Vera Tadic ; Robert Chen ; Christine Klein ; Alexander MünchauSource :
- Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology [ 1872-8952 ] ; 2017.
Abstract
Mutations in the Parkin and PINK1 gene account for the majority of autosomal recessive early-onset Parkinson cases. There is increasing evidence that clinically asymptomatic subjects with single heterozygous mutations have a latent nigrostriatal dopaminergic deficit and could be taken as in vivo model of pre-symptomatic phase of Parkinsonism.
DOI: 10.1016/j.clinph.2016.10.007
PubMed: 27843055
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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Abnormal premotor-motor interaction in heterozygous Parkin- and Pink1 mutation carriers.</title><author><name sortKey="Weissbach, Anne" sort="Weissbach, Anne" uniqKey="Weissbach A" first="Anne" last="Weissbach">Anne Weissbach</name><affiliation><nlm:affiliation>Institute of Neurogenetics, University of Luebeck, Germany; Department of Neurology, University of Luebeck, Germany.</nlm:affiliation></affiliation></author><author><name sortKey="B Umer, Tobias" sort="B Umer, Tobias" uniqKey="B Umer T" first="Tobias" last="B Umer">Tobias B Umer</name><affiliation><nlm:affiliation>Institute of Neurogenetics, University of Luebeck, Germany.</nlm:affiliation></affiliation></author><author><name sortKey="Pramstaller, Peter P" sort="Pramstaller, Peter P" uniqKey="Pramstaller P" first="Peter P" last="Pramstaller">Peter P. Pramstaller</name><affiliation><nlm:affiliation>Center for Biomedicine, European Academy of Bolzano, Bolzano, Italy.</nlm:affiliation></affiliation></author><author><name sortKey="Bruggemann, Norbert" sort="Bruggemann, Norbert" uniqKey="Bruggemann N" first="Norbert" last="Brüggemann">Norbert Brüggemann</name><affiliation><nlm:affiliation>Institute of Neurogenetics, University of Luebeck, Germany; Department of Neurology, University of Luebeck, Germany.</nlm:affiliation></affiliation></author><author><name sortKey="Tadic, Vera" sort="Tadic, Vera" uniqKey="Tadic V" first="Vera" last="Tadic">Vera Tadic</name><affiliation><nlm:affiliation>Institute of Neurogenetics, University of Luebeck, Germany; Department of Neurology, University of Luebeck, Germany.</nlm:affiliation></affiliation></author><author><name sortKey="Chen, Robert" sort="Chen, Robert" uniqKey="Chen R" first="Robert" last="Chen">Robert Chen</name><affiliation><nlm:affiliation>Division of Neurology, Krembil Neuroscience Centre and Toronto Western Research Institute, University Health Network, Toronto, Canada.</nlm:affiliation></affiliation></author><author><name sortKey="Klein, Christine" sort="Klein, Christine" uniqKey="Klein C" first="Christine" last="Klein">Christine Klein</name><affiliation><nlm:affiliation>Institute of Neurogenetics, University of Luebeck, Germany.</nlm:affiliation></affiliation></author><author><name sortKey="Munchau, Alexander" sort="Munchau, Alexander" uniqKey="Munchau A" first="Alexander" last="Münchau">Alexander Münchau</name><affiliation><nlm:affiliation>Institute of Neurogenetics, University of Luebeck, Germany. Electronic address: alexander.muenchau@neuro.uni-luebeck.de.</nlm:affiliation></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2017">2017</date><idno type="RBID">pubmed:27843055</idno><idno type="pmid">27843055</idno><idno type="doi">10.1016/j.clinph.2016.10.007</idno><idno type="wicri:Area/PubMed/Corpus">000086</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">000086</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Abnormal premotor-motor interaction in heterozygous Parkin- and Pink1 mutation carriers.</title><author><name sortKey="Weissbach, Anne" sort="Weissbach, Anne" uniqKey="Weissbach A" first="Anne" last="Weissbach">Anne Weissbach</name><affiliation><nlm:affiliation>Institute of Neurogenetics, University of Luebeck, Germany; Department of Neurology, University of Luebeck, Germany.</nlm:affiliation></affiliation></author><author><name sortKey="B Umer, Tobias" sort="B Umer, Tobias" uniqKey="B Umer T" first="Tobias" last="B Umer">Tobias B Umer</name><affiliation><nlm:affiliation>Institute of Neurogenetics, University of Luebeck, Germany.</nlm:affiliation></affiliation></author><author><name sortKey="Pramstaller, Peter P" sort="Pramstaller, Peter P" uniqKey="Pramstaller P" first="Peter P" last="Pramstaller">Peter P. Pramstaller</name><affiliation><nlm:affiliation>Center for Biomedicine, European Academy of Bolzano, Bolzano, Italy.</nlm:affiliation></affiliation></author><author><name sortKey="Bruggemann, Norbert" sort="Bruggemann, Norbert" uniqKey="Bruggemann N" first="Norbert" last="Brüggemann">Norbert Brüggemann</name><affiliation><nlm:affiliation>Institute of Neurogenetics, University of Luebeck, Germany; Department of Neurology, University of Luebeck, Germany.</nlm:affiliation></affiliation></author><author><name sortKey="Tadic, Vera" sort="Tadic, Vera" uniqKey="Tadic V" first="Vera" last="Tadic">Vera Tadic</name><affiliation><nlm:affiliation>Institute of Neurogenetics, University of Luebeck, Germany; Department of Neurology, University of Luebeck, Germany.</nlm:affiliation></affiliation></author><author><name sortKey="Chen, Robert" sort="Chen, Robert" uniqKey="Chen R" first="Robert" last="Chen">Robert Chen</name><affiliation><nlm:affiliation>Division of Neurology, Krembil Neuroscience Centre and Toronto Western Research Institute, University Health Network, Toronto, Canada.</nlm:affiliation></affiliation></author><author><name sortKey="Klein, Christine" sort="Klein, Christine" uniqKey="Klein C" first="Christine" last="Klein">Christine Klein</name><affiliation><nlm:affiliation>Institute of Neurogenetics, University of Luebeck, Germany.</nlm:affiliation></affiliation></author><author><name sortKey="Munchau, Alexander" sort="Munchau, Alexander" uniqKey="Munchau A" first="Alexander" last="Münchau">Alexander Münchau</name><affiliation><nlm:affiliation>Institute of Neurogenetics, University of Luebeck, Germany. Electronic address: alexander.muenchau@neuro.uni-luebeck.de.</nlm:affiliation></affiliation></author></analytic><series><title level="j">Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology</title><idno type="eISSN">1872-8952</idno><imprint><date when="2017" type="published">2017</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Mutations in the Parkin and PINK1 gene account for the majority of autosomal recessive early-onset Parkinson cases. There is increasing evidence that clinically asymptomatic subjects with single heterozygous mutations have a latent nigrostriatal dopaminergic deficit and could be taken as in vivo model of pre-symptomatic phase of Parkinsonism.</div></front></TEI><pubmed><MedlineCitation Status="In-Process" Owner="NLM"><PMID Version="1">27843055</PMID><DateCreated><Year>2016</Year><Month>11</Month><Day>15</Day></DateCreated><DateRevised><Year>2016</Year><Month>12</Month><Day>27</Day></DateRevised><Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1872-8952</ISSN><JournalIssue CitedMedium="Internet"><Volume>128</Volume><Issue>1</Issue><PubDate><Year>2017</Year><Month>Jan</Month></PubDate></JournalIssue><Title>Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology</Title><ISOAbbreviation>Clin Neurophysiol</ISOAbbreviation></Journal><ArticleTitle>Abnormal premotor-motor interaction in heterozygous Parkin- and Pink1 mutation carriers.</ArticleTitle><Pagination><MedlinePgn>275-280</MedlinePgn></Pagination><ELocationID EIdType="pii" ValidYN="Y">S1388-2457(16)30554-5</ELocationID><ELocationID EIdType="doi" ValidYN="Y">10.1016/j.clinph.2016.10.007</ELocationID><Abstract><AbstractText Label="OBJECTIVES" NlmCategory="OBJECTIVE">Mutations in the Parkin and PINK1 gene account for the majority of autosomal recessive early-onset Parkinson cases. There is increasing evidence that clinically asymptomatic subjects with single heterozygous mutations have a latent nigrostriatal dopaminergic deficit and could be taken as in vivo model of pre-symptomatic phase of Parkinsonism.</AbstractText><AbstractText Label="METHODS" NlmCategory="METHODS">We charted premotor-motor excitability changes as compensatory mechanisms for subcortical dopamine depletions using transcranial magnetic stimulation by applying magnetic resonance-navigated premotor-motor cortex conditioning in 15 asymptomatic, heterozygous Parkin and PINK1 mutation carriers (2 female; mean age 53±8years) and 16 age- and sex-matched controls (5 female; mean age 57±9years). Participants were examined at baseline and after acute l-dopa challenge.</AbstractText><AbstractText Label="RESULTS" NlmCategory="RESULTS">There were l-dopa and group specific effects during premotor-motor conditioning at an interstimulus interval of 6ms indicating a normalisation of premotor-motor interactions in heterozygous Parkin and PINK1 mutation carriers after l-dopa intake. Non-physiologically high conditioned MEP amplitudes at this interval in mutation carriers decreased after l-dopa intake but increased in controls.</AbstractText><AbstractText Label="CONCLUSION" NlmCategory="CONCLUSIONS">Premotor-motor excitability changes are part of the cortical reorganization in asymptomatic heterozygous Parkin- and PINK1 mutation carriers.</AbstractText><AbstractText Label="SIGNIFICANCE" NlmCategory="CONCLUSIONS">These subjects offer opportunities to delineate motor network adaptation in pre-symptomatic Parkinsonism.</AbstractText><CopyrightInformation>Copyright © 2016 International Federation of Clinical Neurophysiology. Published by Elsevier Ireland Ltd. All rights reserved.</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Weissbach</LastName><ForeName>Anne</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>Institute of Neurogenetics, University of Luebeck, Germany; Department of Neurology, University of Luebeck, Germany.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Bäumer</LastName><ForeName>Tobias</ForeName><Initials>T</Initials><AffiliationInfo><Affiliation>Institute of Neurogenetics, University of Luebeck, Germany.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Pramstaller</LastName><ForeName>Peter P</ForeName><Initials>PP</Initials><AffiliationInfo><Affiliation>Center for Biomedicine, European Academy of Bolzano, Bolzano, Italy.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Brüggemann</LastName><ForeName>Norbert</ForeName><Initials>N</Initials><AffiliationInfo><Affiliation>Institute of Neurogenetics, University of Luebeck, Germany; Department of Neurology, University of Luebeck, Germany.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Tadic</LastName><ForeName>Vera</ForeName><Initials>V</Initials><AffiliationInfo><Affiliation>Institute of Neurogenetics, University of Luebeck, Germany; Department of Neurology, University of Luebeck, Germany.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Chen</LastName><ForeName>Robert</ForeName><Initials>R</Initials><AffiliationInfo><Affiliation>Division of Neurology, Krembil Neuroscience Centre and Toronto Western Research Institute, University Health Network, Toronto, Canada.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Klein</LastName><ForeName>Christine</ForeName><Initials>C</Initials><AffiliationInfo><Affiliation>Institute of Neurogenetics, University of Luebeck, Germany.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Münchau</LastName><ForeName>Alexander</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>Institute of Neurogenetics, University of Luebeck, Germany. Electronic address: alexander.muenchau@neuro.uni-luebeck.de.</Affiliation></AffiliationInfo></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType></PublicationTypeList><ArticleDate DateType="Electronic"><Year>2016</Year><Month>10</Month><Day>26</Day></ArticleDate></Article><MedlineJournalInfo><Country>Netherlands</Country><MedlineTA>Clin Neurophysiol</MedlineTA><NlmUniqueID>100883319</NlmUniqueID><ISSNLinking>1388-2457</ISSNLinking></MedlineJournalInfo><KeywordList Owner="NOTNLM"><Keyword MajorTopicYN="N">Genetics</Keyword><Keyword MajorTopicYN="N">Motor cortex</Keyword><Keyword MajorTopicYN="N">Parkinsonism</Keyword><Keyword MajorTopicYN="N">Premotor cortex</Keyword><Keyword MajorTopicYN="N">TMS</Keyword></KeywordList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="received"><Year>2016</Year><Month>07</Month><Day>21</Day></PubMedPubDate><PubMedPubDate PubStatus="revised"><Year>2016</Year><Month>10</Month><Day>05</Day></PubMedPubDate><PubMedPubDate PubStatus="accepted"><Year>2016</Year><Month>10</Month><Day>08</Day></PubMedPubDate><PubMedPubDate PubStatus="pubmed"><Year>2016</Year><Month>11</Month><Day>16</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2016</Year><Month>11</Month><Day>16</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2016</Year><Month>11</Month><Day>16</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">27843055</ArticleId><ArticleId IdType="pii">S1388-2457(16)30554-5</ArticleId><ArticleId IdType="doi">10.1016/j.clinph.2016.10.007</ArticleId></ArticleIdList></PubmedData></pubmed></record>Pour manipuler ce document sous Unix (Dilib)
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