Comparing endophenotypes in adult-onset primary torsion dystonia.
Identifieur interne : 001A74 ( PubMed/Corpus ); précédent : 001A73; suivant : 001A75Comparing endophenotypes in adult-onset primary torsion dystonia.
Auteurs : David Bradley ; Robert Whelan ; Richard Walsh ; John O'Dwyer ; Richard Reilly ; Siobhan Hutchinson ; Fiona Molloy ; Michael HutchinsonSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2010.
English descriptors
- KwdEn :
- Adult, Aged, Diffusion Magnetic Resonance Imaging (methods), Discrimination (Psychology) (physiology), Dystonic Disorders (genetics), Dystonic Disorders (physiopathology), Dystonic Disorders (radionuclide imaging), Female, Humans, Illusions (physiology), Male, Middle Aged, Neuropsychological Tests, Phenotype, Positron-Emission Tomography (methods), Sensory Thresholds (physiology), Space Perception (physiology), Transcranial Magnetic Stimulation (methods).
- MESH :
- genetics : Dystonic Disorders.
- methods : Diffusion Magnetic Resonance Imaging, Positron-Emission Tomography, Transcranial Magnetic Stimulation.
- physiology : Discrimination (Psychology), Illusions, Sensory Thresholds, Space Perception.
- physiopathology : Dystonic Disorders.
- radionuclide imaging : Dystonic Disorders.
- Adult, Aged, Female, Humans, Male, Middle Aged, Neuropsychological Tests, Phenotype.
Abstract
Adult-onset primary torsion dystonia (AOPTD) has an autosomal dominant pattern of inheritance with markedly reduced penetrance; the genetic causes of most forms of AOPTD remain unknown. Endophenotypes, markers of sub-clinical gene carriage, may be of use detecting non-manifesting gene carriers in relatives of AOPTD patients. The aim of this study was to compare the utility of the spatial discrimination threshold (SDT) and temporal discrimination threshold (TDT) as potential endophenotypes in AOPTD. Data on other published candidate endophenotypes are also considered. Both SDT and TDT testing were performed in 24 AOPTD patients and 34 of their unaffected first degree relatives; results were compared with normal values from a control population. Of the 24 AOPTD patients 5 (21%) had abnormal SDTs and 20 (83%) had abnormal TDTs. Of the 34 first degree relatives 17 (50%) had abnormal SDTs and 14 (41%) had abnormal TDTs. Discordant results on SDT and TDT testing were found in 16 (67%) AOPTD patients and 21 (62%) first degree relatives. TDT testing has superior sensitivity compared to SDT testing in AOPTD patients; although false positive TDTs are recognised, the specificity of TDT testing in unaffected relatives is not determinable. The high level of discordance between the two tests probably relates methodological difficulties with SDT testing. The SDT is an unreliable AOPTD endophenotype; TDT testing fulfils criteria for a reliable endophenotype with a high sensitivity.
DOI: 10.1002/mds.22889
PubMed: 19938165
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pubmed:19938165Le document en format XML
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Reilly</name></author><author><name sortKey="Hutchinson, Siobhan" sort="Hutchinson, Siobhan" uniqKey="Hutchinson S" first="Siobhan" last="Hutchinson">Siobhan Hutchinson</name></author><author><name sortKey="Molloy, Fiona" sort="Molloy, Fiona" uniqKey="Molloy F" first="Fiona" last="Molloy">Fiona Molloy</name></author><author><name sortKey="Hutchinson, Michael" sort="Hutchinson, Michael" uniqKey="Hutchinson M" first="Michael" last="Hutchinson">Michael Hutchinson</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2010">2010</date><idno type="doi">10.1002/mds.22889</idno><idno type="RBID">pubmed:19938165</idno><idno type="pmid">19938165</idno><idno type="wicri:Area/PubMed/Corpus">001A74</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Comparing endophenotypes in adult-onset primary torsion dystonia.</title><author><name sortKey="Bradley, David" sort="Bradley, David" uniqKey="Bradley D" first="David" last="Bradley">David Bradley</name><affiliation><nlm:affiliation>Department of Neurology, St. Vincent's University Hospital, Dublin 4, Ireland. david.bradley@ucd.ie</nlm:affiliation></affiliation></author><author><name sortKey="Whelan, Robert" sort="Whelan, Robert" uniqKey="Whelan R" first="Robert" last="Whelan">Robert Whelan</name></author><author><name sortKey="Walsh, Richard" sort="Walsh, Richard" uniqKey="Walsh R" first="Richard" last="Walsh">Richard Walsh</name></author><author><name sortKey="O Dwyer, John" sort="O Dwyer, John" uniqKey="O Dwyer J" first="John" last="O'Dwyer">John O'Dwyer</name></author><author><name sortKey="Reilly, Richard" sort="Reilly, Richard" uniqKey="Reilly R" first="Richard" last="Reilly">Richard Reilly</name></author><author><name sortKey="Hutchinson, Siobhan" sort="Hutchinson, Siobhan" uniqKey="Hutchinson S" first="Siobhan" last="Hutchinson">Siobhan Hutchinson</name></author><author><name sortKey="Molloy, Fiona" sort="Molloy, Fiona" uniqKey="Molloy F" first="Fiona" last="Molloy">Fiona Molloy</name></author><author><name sortKey="Hutchinson, Michael" sort="Hutchinson, Michael" uniqKey="Hutchinson M" first="Michael" last="Hutchinson">Michael Hutchinson</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="2010" type="published">2010</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Aged</term><term>Diffusion Magnetic Resonance Imaging (methods)</term><term>Discrimination (Psychology) (physiology)</term><term>Dystonic Disorders (genetics)</term><term>Dystonic Disorders (physiopathology)</term><term>Dystonic Disorders (radionuclide imaging)</term><term>Female</term><term>Humans</term><term>Illusions (physiology)</term><term>Male</term><term>Middle Aged</term><term>Neuropsychological Tests</term><term>Phenotype</term><term>Positron-Emission Tomography (methods)</term><term>Sensory Thresholds (physiology)</term><term>Space Perception (physiology)</term><term>Transcranial Magnetic Stimulation (methods)</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Dystonic Disorders</term></keywords><keywords scheme="MESH" qualifier="methods" xml:lang="en"><term>Diffusion Magnetic Resonance Imaging</term><term>Positron-Emission Tomography</term><term>Transcranial Magnetic Stimulation</term></keywords><keywords scheme="MESH" qualifier="physiology" xml:lang="en"><term>Discrimination (Psychology)</term><term>Illusions</term><term>Sensory Thresholds</term><term>Space Perception</term></keywords><keywords scheme="MESH" qualifier="physiopathology" xml:lang="en"><term>Dystonic Disorders</term></keywords><keywords scheme="MESH" qualifier="radionuclide imaging" xml:lang="en"><term>Dystonic Disorders</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Aged</term><term>Female</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Neuropsychological Tests</term><term>Phenotype</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Adult-onset primary torsion dystonia (AOPTD) has an autosomal dominant pattern of inheritance with markedly reduced penetrance; the genetic causes of most forms of AOPTD remain unknown. Endophenotypes, markers of sub-clinical gene carriage, may be of use detecting non-manifesting gene carriers in relatives of AOPTD patients. The aim of this study was to compare the utility of the spatial discrimination threshold (SDT) and temporal discrimination threshold (TDT) as potential endophenotypes in AOPTD. Data on other published candidate endophenotypes are also considered. Both SDT and TDT testing were performed in 24 AOPTD patients and 34 of their unaffected first degree relatives; results were compared with normal values from a control population. Of the 24 AOPTD patients 5 (21%) had abnormal SDTs and 20 (83%) had abnormal TDTs. Of the 34 first degree relatives 17 (50%) had abnormal SDTs and 14 (41%) had abnormal TDTs. Discordant results on SDT and TDT testing were found in 16 (67%) AOPTD patients and 21 (62%) first degree relatives. TDT testing has superior sensitivity compared to SDT testing in AOPTD patients; although false positive TDTs are recognised, the specificity of TDT testing in unaffected relatives is not determinable. The high level of discordance between the two tests probably relates methodological difficulties with SDT testing. The SDT is an unreliable AOPTD endophenotype; TDT testing fulfils criteria for a reliable endophenotype with a high sensitivity.</div></front></TEI><pubmed><MedlineCitation Owner="NLM" Status="MEDLINE"><PMID Version="1">19938165</PMID><DateCreated><Year>2010</Year><Month>02</Month><Day>01</Day></DateCreated><DateCompleted><Year>2010</Year><Month>04</Month><Day>06</Day></DateCompleted><Article PubModel="Print"><Journal><ISSN IssnType="Electronic">1531-8257</ISSN><JournalIssue CitedMedium="Internet"><Volume>25</Volume><Issue>1</Issue><PubDate><Year>2010</Year><Month>Jan</Month><Day>15</Day></PubDate></JournalIssue><Title>Movement disorders : official journal of the Movement Disorder Society</Title><ISOAbbreviation>Mov. Disord.</ISOAbbreviation></Journal><ArticleTitle>Comparing endophenotypes in adult-onset primary torsion dystonia.</ArticleTitle><Pagination><MedlinePgn>84-90</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1002/mds.22889</ELocationID><Abstract><AbstractText>Adult-onset primary torsion dystonia (AOPTD) has an autosomal dominant pattern of inheritance with markedly reduced penetrance; the genetic causes of most forms of AOPTD remain unknown. Endophenotypes, markers of sub-clinical gene carriage, may be of use detecting non-manifesting gene carriers in relatives of AOPTD patients. The aim of this study was to compare the utility of the spatial discrimination threshold (SDT) and temporal discrimination threshold (TDT) as potential endophenotypes in AOPTD. Data on other published candidate endophenotypes are also considered. Both SDT and TDT testing were performed in 24 AOPTD patients and 34 of their unaffected first degree relatives; results were compared with normal values from a control population. Of the 24 AOPTD patients 5 (21%) had abnormal SDTs and 20 (83%) had abnormal TDTs. Of the 34 first degree relatives 17 (50%) had abnormal SDTs and 14 (41%) had abnormal TDTs. Discordant results on SDT and TDT testing were found in 16 (67%) AOPTD patients and 21 (62%) first degree relatives. TDT testing has superior sensitivity compared to SDT testing in AOPTD patients; although false positive TDTs are recognised, the specificity of TDT testing in unaffected relatives is not determinable. The high level of discordance between the two tests probably relates methodological difficulties with SDT testing. The SDT is an unreliable AOPTD endophenotype; TDT testing fulfils criteria for a reliable endophenotype with a high sensitivity.</AbstractText></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Bradley</LastName><ForeName>David</ForeName><Initials>D</Initials><AffiliationInfo><Affiliation>Department of Neurology, St. Vincent's University Hospital, Dublin 4, Ireland. david.bradley@ucd.ie</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Whelan</LastName><ForeName>Robert</ForeName><Initials>R</Initials></Author><Author ValidYN="Y"><LastName>Walsh</LastName><ForeName>Richard</ForeName><Initials>R</Initials></Author><Author ValidYN="Y"><LastName>O'Dwyer</LastName><ForeName>John</ForeName><Initials>J</Initials></Author><Author ValidYN="Y"><LastName>Reilly</LastName><ForeName>Richard</ForeName><Initials>R</Initials></Author><Author ValidYN="Y"><LastName>Hutchinson</LastName><ForeName>Siobhan</ForeName><Initials>S</Initials></Author><Author ValidYN="Y"><LastName>Molloy</LastName><ForeName>Fiona</ForeName><Initials>F</Initials></Author><Author ValidYN="Y"><LastName>Hutchinson</LastName><ForeName>Michael</ForeName><Initials>M</Initials></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D003160">Comparative Study</PublicationType><PublicationType UI="D016428">Journal Article</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><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName MajorTopicYN="N" UI="D000328">Adult</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D000368">Aged</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D038524">Diffusion Magnetic Resonance Imaging</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000379">methods</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D004192">Discrimination (Psychology)</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000502">physiology</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D020821">Dystonic Disorders</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName><QualifierName MajorTopicYN="Y" UI="Q000503">physiopathology</QualifierName><QualifierName MajorTopicYN="N" UI="Q000531">radionuclide imaging</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005260">Female</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D006801">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D007088">Illusions</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000502">physiology</QualifierName></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="D009483">Neuropsychological Tests</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D010641">Phenotype</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D049268">Positron-Emission Tomography</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000379">methods</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D012684">Sensory Thresholds</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000502">physiology</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D013028">Space Perception</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000502">physiology</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D050781">Transcranial Magnetic Stimulation</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000379">methods</QualifierName></MeshHeading></MeshHeadingList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="entrez"><Year>2009</Year><Month>11</Month><Day>26</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="pubmed"><Year>2009</Year><Month>11</Month><Day>26</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2010</Year><Month>4</Month><Day>7</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="doi">10.1002/mds.22889</ArticleId><ArticleId IdType="pubmed">19938165</ArticleId></ArticleIdList></PubmedData></pubmed></record>Pour manipuler ce document sous Unix (Dilib)
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