Comparing endophenotypes in adult-onset primary torsion dystonia.

Hdl Handle:
http://hdl.handle.net/10147/207513
Title:
Comparing endophenotypes in adult-onset primary torsion dystonia.
Authors:
Bradley, David; Whelan, Robert; Walsh, Richard; O'Dwyer, John; Reilly, Richard; Hutchinson, Siobhan; Molloy, Fiona; Hutchinson, Michael
Affiliation:
Department of Neurology, St. Vincent's University Hospital, Dublin 4, Ireland., david.bradley@ucd.ie
Citation:
Mov Disord. 2010 Jan 15;25(1):84-90.
Journal:
Movement disorders : official journal of the Movement Disorder Society
Issue Date:
1-Feb-2012
URI:
http://hdl.handle.net/10147/207513
DOI:
10.1002/mds.22889
PubMed ID:
19938165
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.
Language:
eng
MeSH:
Adult; Aged; Diffusion Magnetic Resonance Imaging/methods; Discrimination (Psychology)/*physiology; Dystonic Disorders/genetics/*physiopathology/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
ISSN:
1531-8257 (Electronic); 0885-3185 (Linking)

Full metadata record

DC FieldValue Language
dc.contributor.authorBradley, Daviden_GB
dc.contributor.authorWhelan, Roberten_GB
dc.contributor.authorWalsh, Richarden_GB
dc.contributor.authorO'Dwyer, Johnen_GB
dc.contributor.authorReilly, Richarden_GB
dc.contributor.authorHutchinson, Siobhanen_GB
dc.contributor.authorMolloy, Fionaen_GB
dc.contributor.authorHutchinson, Michaelen_GB
dc.date.accessioned2012-02-01T10:29:58Z-
dc.date.available2012-02-01T10:29:58Z-
dc.date.issued2012-02-01T10:29:58Z-
dc.identifier.citationMov Disord. 2010 Jan 15;25(1):84-90.en_GB
dc.identifier.issn1531-8257 (Electronic)en_GB
dc.identifier.issn0885-3185 (Linking)en_GB
dc.identifier.pmid19938165en_GB
dc.identifier.doi10.1002/mds.22889en_GB
dc.identifier.urihttp://hdl.handle.net/10147/207513-
dc.description.abstractAdult-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.en_GB
dc.language.isoengen_GB
dc.subject.meshAdulten_GB
dc.subject.meshAgeden_GB
dc.subject.meshDiffusion Magnetic Resonance Imaging/methodsen_GB
dc.subject.meshDiscrimination (Psychology)/*physiologyen_GB
dc.subject.meshDystonic Disorders/genetics/*physiopathology/radionuclide imagingen_GB
dc.subject.meshFemaleen_GB
dc.subject.meshHumansen_GB
dc.subject.meshIllusions/*physiologyen_GB
dc.subject.meshMaleen_GB
dc.subject.meshMiddle Ageden_GB
dc.subject.meshNeuropsychological Testsen_GB
dc.subject.meshPhenotypeen_GB
dc.subject.meshPositron-Emission Tomography/methodsen_GB
dc.subject.meshSensory Thresholds/*physiologyen_GB
dc.subject.meshSpace Perception/*physiologyen_GB
dc.subject.meshTranscranial Magnetic Stimulation/methodsen_GB
dc.titleComparing endophenotypes in adult-onset primary torsion dystonia.en_GB
dc.contributor.departmentDepartment of Neurology, St. Vincent's University Hospital, Dublin 4, Ireland., david.bradley@ucd.ieen_GB
dc.identifier.journalMovement disorders : official journal of the Movement Disorder Societyen_GB
dc.description.provinceLeinster-

Related articles on PubMed

All Items in Lenus, The Irish Health Repository are protected by copyright, with all rights reserved, unless otherwise indicated.