Comparing endophenotypes in adult‐onset primary torsion dystonia
Identifieur interne : 001D79 ( Main/Exploration ); précédent : 001D78; suivant : 001D80Comparing endophenotypes in adult‐onset primary torsion dystonia
Auteurs : David Bradley [Irlande (pays)] ; Robert Whelan [Irlande (pays)] ; Richard Walsh [Irlande (pays)] ; John O'Dwyer [Irlande (pays)] ; Richard Reilly [Irlande (pays)] ; Siobhan Hutchinson [Irlande (pays)] ; Fiona Molloy [Irlande (pays)] ; Michael Hutchinson [Irlande (pays)]Source :
- Movement Disorders [ 0885-3185 ] ; 2010-01-15.
Descripteurs français
- Pascal (Inist)
English descriptors
- KwdEn :
- AOPTD, Adult, Aged, Basal ganglion, Diffusion Magnetic Resonance Imaging (methods), Discrimination, Discrimination (Psychology) (physiology), Dystonia, Dystonic Disorders (genetics), Dystonic Disorders (physiopathology), Dystonic Disorders (radionuclide imaging), Female, Humans, Illusions (physiology), Male, Middle Aged, Nervous system diseases, Neuropsychological Tests, Phenotype, Positron-Emission Tomography (methods), Sensory Thresholds (physiology), Space Perception (physiology), Torsion, Transcranial Magnetic Stimulation (methods), basal ganglia, endophenotype, spatial discrimination, temporal discrimination.
- 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. © 2009 Movement Disorder Society
Url:
DOI: 10.1002/mds.22889
Affiliations:
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Disord.</title><idno type="ISSN">0885-3185</idno><idno type="eISSN">1531-8257</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2010-01-15">2010-01-15</date><biblScope unit="vol">25</biblScope><biblScope unit="issue">1</biblScope><biblScope unit="page" from="84">84</biblScope><biblScope unit="page" to="90">90</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">468351FCFC32E7ED77F5A2BE0066B84AC8FE3921</idno><idno type="DOI">10.1002/mds.22889</idno><idno type="ArticleID">MDS22889</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>AOPTD</term><term>Adult</term><term>Aged</term><term>Basal ganglion</term><term>Diffusion Magnetic Resonance Imaging (methods)</term><term>Discrimination</term><term>Discrimination (Psychology) (physiology)</term><term>Dystonia</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>Nervous system diseases</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>Torsion</term><term>Transcranial Magnetic Stimulation (methods)</term><term>basal ganglia</term><term>endophenotype</term><term>spatial discrimination</term><term>temporal discrimination</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><keywords scheme="Pascal" xml:lang="fr"><term>Discrimination</term><term>Dystonie</term><term>Noyau gris central</term><term>Pathologie du système nerveux</term><term>Torsion</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></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. © 2009 Movement Disorder Society</div></front></TEI><affiliations><list><country><li>Irlande (pays)</li></country></list><tree><country name="Irlande (pays)"><noRegion><name sortKey="Bradley, David" sort="Bradley, David" uniqKey="Bradley D" first="David" last="Bradley">David Bradley</name></noRegion><name sortKey="Bradley, David" sort="Bradley, David" uniqKey="Bradley D" first="David" last="Bradley">David Bradley</name><name sortKey="Hutchinson, Michael" sort="Hutchinson, Michael" uniqKey="Hutchinson M" first="Michael" last="Hutchinson">Michael Hutchinson</name><name sortKey="Hutchinson, Siobhan" sort="Hutchinson, Siobhan" uniqKey="Hutchinson S" first="Siobhan" last="Hutchinson">Siobhan Hutchinson</name><name sortKey="Molloy, Fiona" sort="Molloy, Fiona" uniqKey="Molloy F" first="Fiona" last="Molloy">Fiona Molloy</name><name sortKey="O Dwyer, John" sort="O Dwyer, John" uniqKey="O Dwyer J" first="John" last="O'Dwyer">John O'Dwyer</name><name sortKey="Reilly, Richard" sort="Reilly, Richard" uniqKey="Reilly R" first="Richard" last="Reilly">Richard Reilly</name><name sortKey="Walsh, Richard" sort="Walsh, Richard" uniqKey="Walsh R" first="Richard" last="Walsh">Richard Walsh</name><name sortKey="Whelan, Robert" sort="Whelan, Robert" uniqKey="Whelan R" first="Robert" last="Whelan">Robert Whelan</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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