TARDBP variation associated with frontotemporal dementia, supranuclear gaze palsy, and chorea.
Identifieur interne : 001C19 ( PubMed/Corpus ); précédent : 001C18; suivant : 001C20TARDBP variation associated with frontotemporal dementia, supranuclear gaze palsy, and chorea.
Auteurs : Gabor G. Kovacs ; Jill R. Murrell ; Sandor Horvath ; Laszlo Haraszti ; Katalin Majtenyi ; Maria J. Molnar ; Herbert Budka ; Bernardino Ghetti ; Salvatore SpinaSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2009.
English descriptors
- KwdEn :
- Chorea (diagnosis), Chorea (genetics), DNA Mutational Analysis, DNA-Binding Proteins (genetics), DNA-Binding Proteins (metabolism), Family Health, Female, Frontotemporal Dementia (diagnosis), Frontotemporal Dementia (genetics), Genetic Predisposition to Disease, Glutamic Acid (genetics), Humans, Lysine (genetics), Magnetic Resonance Imaging, Male, Middle Aged, Mutation (genetics), Neuropsychological Tests, Supranuclear Palsy, Progressive (diagnosis), Supranuclear Palsy, Progressive (genetics), Tomography Scanners, X-Ray Computed.
- MESH :
- chemical , genetics : DNA-Binding Proteins, Glutamic Acid, Lysine.
- diagnosis : Chorea, Frontotemporal Dementia, Supranuclear Palsy, Progressive.
- genetics : Chorea, Frontotemporal Dementia, Mutation, Supranuclear Palsy, Progressive.
- chemical , metabolism : DNA-Binding Proteins.
- DNA Mutational Analysis, Family Health, Female, Genetic Predisposition to Disease, Humans, Magnetic Resonance Imaging, Male, Middle Aged, Neuropsychological Tests, Tomography Scanners, X-Ray Computed.
Abstract
TDP-43 has been identified as the pathological protein in the majority of cases of frontotemporal lobar degeneration and amyotrophic lateral sclerosis (ALS). TARDBP mutations have so far been uniquely associated with familial and sporadic ALS. We describe clinicopathological and genetic findings in a carrier of the novel K263E TARDBP variation, who developed frontotemporal dementia, supranuclear palsy, and chorea, but no signs of motor neuron disease. Neuropathologic examination revealed neuronal and glial TDP-43-immunoreactive deposits, predominantly in subcortical nuclei and brainstem. This is the first report of a TARDBP variation associated with a neurodegenerative syndrome other than ALS.
DOI: 10.1002/mds.22697
PubMed: 19609911
Links to Exploration step
pubmed:19609911Le document en format XML
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Murrell</name></author><author><name sortKey="Horvath, Sandor" sort="Horvath, Sandor" uniqKey="Horvath S" first="Sandor" last="Horvath">Sandor Horvath</name></author><author><name sortKey="Haraszti, Laszlo" sort="Haraszti, Laszlo" uniqKey="Haraszti L" first="Laszlo" last="Haraszti">Laszlo Haraszti</name></author><author><name sortKey="Majtenyi, Katalin" sort="Majtenyi, Katalin" uniqKey="Majtenyi K" first="Katalin" last="Majtenyi">Katalin Majtenyi</name></author><author><name sortKey="Molnar, Maria J" sort="Molnar, Maria J" uniqKey="Molnar M" first="Maria J" last="Molnar">Maria J. Molnar</name></author><author><name sortKey="Budka, Herbert" sort="Budka, Herbert" uniqKey="Budka H" first="Herbert" last="Budka">Herbert Budka</name></author><author><name sortKey="Ghetti, Bernardino" sort="Ghetti, Bernardino" uniqKey="Ghetti B" first="Bernardino" last="Ghetti">Bernardino Ghetti</name></author><author><name sortKey="Spina, Salvatore" sort="Spina, Salvatore" uniqKey="Spina S" first="Salvatore" last="Spina">Salvatore Spina</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2009">2009</date><idno type="doi">10.1002/mds.22697</idno><idno type="RBID">pubmed:19609911</idno><idno type="pmid">19609911</idno><idno type="wicri:Area/PubMed/Corpus">001C19</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">TARDBP variation associated with frontotemporal dementia, supranuclear gaze palsy, and chorea.</title><author><name sortKey="Kovacs, Gabor G" sort="Kovacs, Gabor G" uniqKey="Kovacs G" first="Gabor G" last="Kovacs">Gabor G. Kovacs</name><affiliation><nlm:affiliation>Institute of Neurology, Medical University of Vienna, Vienna, Austria.</nlm:affiliation></affiliation></author><author><name sortKey="Murrell, Jill R" sort="Murrell, Jill R" uniqKey="Murrell J" first="Jill R" last="Murrell">Jill R. Murrell</name></author><author><name sortKey="Horvath, Sandor" sort="Horvath, Sandor" uniqKey="Horvath S" first="Sandor" last="Horvath">Sandor Horvath</name></author><author><name sortKey="Haraszti, Laszlo" sort="Haraszti, Laszlo" uniqKey="Haraszti L" first="Laszlo" last="Haraszti">Laszlo Haraszti</name></author><author><name sortKey="Majtenyi, Katalin" sort="Majtenyi, Katalin" uniqKey="Majtenyi K" first="Katalin" last="Majtenyi">Katalin Majtenyi</name></author><author><name sortKey="Molnar, Maria J" sort="Molnar, Maria J" uniqKey="Molnar M" first="Maria J" last="Molnar">Maria J. Molnar</name></author><author><name sortKey="Budka, Herbert" sort="Budka, Herbert" uniqKey="Budka H" first="Herbert" last="Budka">Herbert Budka</name></author><author><name sortKey="Ghetti, Bernardino" sort="Ghetti, Bernardino" uniqKey="Ghetti B" first="Bernardino" last="Ghetti">Bernardino Ghetti</name></author><author><name sortKey="Spina, Salvatore" sort="Spina, Salvatore" uniqKey="Spina S" first="Salvatore" last="Spina">Salvatore Spina</name></author></analytic><series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title><idno type="eISSN">1531-8257</idno><imprint><date when="2009" type="published">2009</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Chorea (diagnosis)</term><term>Chorea (genetics)</term><term>DNA Mutational Analysis</term><term>DNA-Binding Proteins (genetics)</term><term>DNA-Binding Proteins (metabolism)</term><term>Family Health</term><term>Female</term><term>Frontotemporal Dementia (diagnosis)</term><term>Frontotemporal Dementia (genetics)</term><term>Genetic Predisposition to Disease</term><term>Glutamic Acid (genetics)</term><term>Humans</term><term>Lysine (genetics)</term><term>Magnetic Resonance Imaging</term><term>Male</term><term>Middle Aged</term><term>Mutation (genetics)</term><term>Neuropsychological Tests</term><term>Supranuclear Palsy, Progressive (diagnosis)</term><term>Supranuclear Palsy, Progressive (genetics)</term><term>Tomography Scanners, X-Ray Computed</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>DNA-Binding Proteins</term><term>Glutamic Acid</term><term>Lysine</term></keywords><keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Chorea</term><term>Frontotemporal Dementia</term><term>Supranuclear Palsy, Progressive</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Chorea</term><term>Frontotemporal Dementia</term><term>Mutation</term><term>Supranuclear Palsy, Progressive</term></keywords><keywords scheme="MESH" type="chemical" qualifier="metabolism" xml:lang="en"><term>DNA-Binding Proteins</term></keywords><keywords scheme="MESH" xml:lang="en"><term>DNA Mutational Analysis</term><term>Family Health</term><term>Female</term><term>Genetic Predisposition to Disease</term><term>Humans</term><term>Magnetic Resonance Imaging</term><term>Male</term><term>Middle Aged</term><term>Neuropsychological Tests</term><term>Tomography Scanners, X-Ray Computed</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">TDP-43 has been identified as the pathological protein in the majority of cases of frontotemporal lobar degeneration and amyotrophic lateral sclerosis (ALS). TARDBP mutations have so far been uniquely associated with familial and sporadic ALS. We describe clinicopathological and genetic findings in a carrier of the novel K263E TARDBP variation, who developed frontotemporal dementia, supranuclear palsy, and chorea, but no signs of motor neuron disease. Neuropathologic examination revealed neuronal and glial TDP-43-immunoreactive deposits, predominantly in subcortical nuclei and brainstem. This is the first report of a TARDBP variation associated with a neurodegenerative syndrome other than ALS.</div></front></TEI><pubmed><MedlineCitation Owner="NLM" Status="MEDLINE"><PMID Version="1">19609911</PMID><DateCreated><Year>2009</Year><Month>09</Month><Day>17</Day></DateCreated><DateCompleted><Year>2009</Year><Month>12</Month><Day>04</Day></DateCompleted><DateRevised><Year>2015</Year><Month>04</Month><Day>17</Day></DateRevised><Article PubModel="Print"><Journal><ISSN IssnType="Electronic">1531-8257</ISSN><JournalIssue CitedMedium="Internet"><Volume>24</Volume><Issue>12</Issue><PubDate><Year>2009</Year><Month>Sep</Month><Day>15</Day></PubDate></JournalIssue><Title>Movement disorders : official journal of the Movement Disorder Society</Title><ISOAbbreviation>Mov. Disord.</ISOAbbreviation></Journal><ArticleTitle>TARDBP variation associated with frontotemporal dementia, supranuclear gaze palsy, and chorea.</ArticleTitle><Pagination><MedlinePgn>1843-7</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1002/mds.22697</ELocationID><Abstract><AbstractText>TDP-43 has been identified as the pathological protein in the majority of cases of frontotemporal lobar degeneration and amyotrophic lateral sclerosis (ALS). TARDBP mutations have so far been uniquely associated with familial and sporadic ALS. We describe clinicopathological and genetic findings in a carrier of the novel K263E TARDBP variation, who developed frontotemporal dementia, supranuclear palsy, and chorea, but no signs of motor neuron disease. Neuropathologic examination revealed neuronal and glial TDP-43-immunoreactive deposits, predominantly in subcortical nuclei and brainstem. This is the first report of a TARDBP variation associated with a neurodegenerative syndrome other than ALS.</AbstractText></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Kovacs</LastName><ForeName>Gabor G</ForeName><Initials>GG</Initials><AffiliationInfo><Affiliation>Institute of Neurology, Medical University of Vienna, Vienna, Austria.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Murrell</LastName><ForeName>Jill R</ForeName><Initials>JR</Initials></Author><Author ValidYN="Y"><LastName>Horvath</LastName><ForeName>Sandor</ForeName><Initials>S</Initials></Author><Author ValidYN="Y"><LastName>Haraszti</LastName><ForeName>Laszlo</ForeName><Initials>L</Initials></Author><Author ValidYN="Y"><LastName>Majtenyi</LastName><ForeName>Katalin</ForeName><Initials>K</Initials></Author><Author ValidYN="Y"><LastName>Molnar</LastName><ForeName>Maria J</ForeName><Initials>MJ</Initials></Author><Author ValidYN="Y"><LastName>Budka</LastName><ForeName>Herbert</ForeName><Initials>H</Initials></Author><Author ValidYN="Y"><LastName>Ghetti</LastName><ForeName>Bernardino</ForeName><Initials>B</Initials></Author><Author ValidYN="Y"><LastName>Spina</LastName><ForeName>Salvatore</ForeName><Initials>S</Initials></Author></AuthorList><Language>eng</Language><GrantList CompleteYN="Y"><Grant><GrantID>AG010133</GrantID><Acronym>AG</Acronym><Agency>NIA NIH HHS</Agency><Country>United States</Country></Grant><Grant><GrantID>U24 AG21886</GrantID><Acronym>AG</Acronym><Agency>NIA NIH HHS</Agency><Country>United States</Country></Grant></GrantList><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D052061">Research Support, N.I.H., Extramural</PublicationType><PublicationType UI="D013485">Research Support, Non-U.S. Gov't</PublicationType></PublicationTypeList></Article><MedlineJournalInfo><Country>United States</Country><MedlineTA>Mov Disord</MedlineTA><NlmUniqueID>8610688</NlmUniqueID><ISSNLinking>0885-3185</ISSNLinking></MedlineJournalInfo><ChemicalList><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D004268">DNA-Binding Proteins</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="C093521">protein TDP-43</NameOfSubstance></Chemical><Chemical><RegistryNumber>3KX376GY7L</RegistryNumber><NameOfSubstance UI="D018698">Glutamic Acid</NameOfSubstance></Chemical><Chemical><RegistryNumber>K3Z4F929H6</RegistryNumber><NameOfSubstance UI="D008239">Lysine</NameOfSubstance></Chemical></ChemicalList><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName MajorTopicYN="N" UI="D002819">Chorea</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000175">diagnosis</QualifierName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D004252">DNA Mutational Analysis</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D004268">DNA-Binding Proteins</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName><QualifierName MajorTopicYN="N" UI="Q000378">metabolism</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005192">Family Health</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005260">Female</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D057180">Frontotemporal Dementia</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000175">diagnosis</QualifierName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="Y" UI="D020022">Genetic Predisposition to Disease</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D018698">Glutamic Acid</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D006801">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D008239">Lysine</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D008279">Magnetic Resonance Imaging</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D008297">Male</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D008875">Middle Aged</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D009154">Mutation</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D009483">Neuropsychological Tests</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D013494">Supranuclear Palsy, Progressive</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000175">diagnosis</QualifierName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D015898">Tomography Scanners, X-Ray Computed</DescriptorName></MeshHeading></MeshHeadingList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="entrez"><Year>2009</Year><Month>7</Month><Day>18</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="pubmed"><Year>2009</Year><Month>7</Month><Day>18</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2009</Year><Month>12</Month><Day>16</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="doi">10.1002/mds.22697</ArticleId><ArticleId IdType="pubmed">19609911</ArticleId></ArticleIdList></PubmedData></pubmed></record>Pour manipuler ce document sous 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