Temporal discrimination thresholds in adult-onset primary torsion dystonia: an analysis by task type and by dystonia phenotype.

Hdl Handle:
http://hdl.handle.net/10147/223031
Title:
Temporal discrimination thresholds in adult-onset primary torsion dystonia: an analysis by task type and by dystonia phenotype.
Authors:
Bradley, D; Whelan, R; Kimmich, O; O'Riordan, S; Mulrooney, N; Brady, P; Walsh, R; Reilly, R B; Hutchinson, S; Molloy, F; Hutchinson, M
Affiliation:
Department of Neurology, St. Vincent's University Hospital, Elm Park, Dublin 4, Ireland. davidbradley@physicians.ie
Citation:
Temporal discrimination thresholds in adult-onset primary torsion dystonia: an analysis by task type and by dystonia phenotype. 2012, 259 (1):77-82 J. Neurol.
Journal:
Journal of neurology
Issue Date:
Jan-2012
URI:
http://hdl.handle.net/10147/223031
DOI:
10.1007/s00415-011-6125-7
PubMed ID:
21656045
Abstract:
Adult-onset primary torsion dystonia (AOPTD) is an autosomal dominant disorder with markedly reduced penetrance. Sensory abnormalities are present in AOPTD and also in unaffected relatives, possibly indicating non-manifesting gene carriage (acting as an endophenotype). The temporal discrimination threshold (TDT) is the shortest time interval at which two stimuli are detected to be asynchronous. We aimed to compare the sensitivity and specificity of three different TDT tasks (visual, tactile and mixed/visual-tactile). We also aimed to examine the sensitivity of TDTs in different AOPTD phenotypes. To examine tasks, we tested TDT in 41 patients and 51 controls using visual (2 lights), tactile (non-painful electrical stimulation) and mixed (1 light, 1 electrical) stimuli. To investigate phenotypes, we examined 71 AOPTD patients (37 cervical dystonia, 14 writer's cramp, 9 blepharospasm, 11 spasmodic dysphonia) and 8 musician's dystonia patients. The upper limit of normal was defined as control mean +2.5 SD. In dystonia patients, the visual task detected abnormalities in 35/41 (85%), the tactile task in 35/41 (85%) and the mixed task in 26/41 (63%); the mixed task was less sensitive than the other two (p = 0.04). Specificity was 100% for the visual and tactile tasks. Abnormal TDTs were found in 36 of 37 (97.3%) cervical dystonia, 12 of 14 (85.7%) writer's cramp, 8 of 9 (88.8%) blepharospasm, 10 of 11 (90.1%) spasmodic dysphonia patients and 5 of 8 (62.5%) musicians. The visual and tactile tasks were found to be more sensitive than the mixed task. Temporal discrimination threshold results were comparable across common adult-onset primary torsion dystonia phenotypes, with lower sensitivity in the musicians.
Item Type:
Article
Language:
en
MeSH:
Adult; Age of Onset; Aged; Aging; Basal Ganglia Diseases; Blepharospasm; Discrimination (Psychology); Dysphonia; Dystonia Musculorum Deformans; Dystonic Disorders; Electric Stimulation; Female; Humans; Male; Middle Aged; Phenotype; Photic Stimulation; Physical Stimulation; Psychomotor Performance; Time Perception; Torticollis; Young Adult
ISSN:
1432-1459

Full metadata record

DC FieldValue Language
dc.contributor.authorBradley, Den_GB
dc.contributor.authorWhelan, Ren_GB
dc.contributor.authorKimmich, Oen_GB
dc.contributor.authorO'Riordan, Sen_GB
dc.contributor.authorMulrooney, Nen_GB
dc.contributor.authorBrady, Pen_GB
dc.contributor.authorWalsh, Ren_GB
dc.contributor.authorReilly, R Ben_GB
dc.contributor.authorHutchinson, Sen_GB
dc.contributor.authorMolloy, Fen_GB
dc.contributor.authorHutchinson, Men_GB
dc.date.accessioned2012-05-10T11:13:21Z-
dc.date.available2012-05-10T11:13:21Z-
dc.date.issued2012-01-
dc.identifier.citationTemporal discrimination thresholds in adult-onset primary torsion dystonia: an analysis by task type and by dystonia phenotype. 2012, 259 (1):77-82 J. Neurol.en_GB
dc.identifier.issn1432-1459-
dc.identifier.pmid21656045-
dc.identifier.doi10.1007/s00415-011-6125-7-
dc.identifier.urihttp://hdl.handle.net/10147/223031-
dc.description.abstractAdult-onset primary torsion dystonia (AOPTD) is an autosomal dominant disorder with markedly reduced penetrance. Sensory abnormalities are present in AOPTD and also in unaffected relatives, possibly indicating non-manifesting gene carriage (acting as an endophenotype). The temporal discrimination threshold (TDT) is the shortest time interval at which two stimuli are detected to be asynchronous. We aimed to compare the sensitivity and specificity of three different TDT tasks (visual, tactile and mixed/visual-tactile). We also aimed to examine the sensitivity of TDTs in different AOPTD phenotypes. To examine tasks, we tested TDT in 41 patients and 51 controls using visual (2 lights), tactile (non-painful electrical stimulation) and mixed (1 light, 1 electrical) stimuli. To investigate phenotypes, we examined 71 AOPTD patients (37 cervical dystonia, 14 writer's cramp, 9 blepharospasm, 11 spasmodic dysphonia) and 8 musician's dystonia patients. The upper limit of normal was defined as control mean +2.5 SD. In dystonia patients, the visual task detected abnormalities in 35/41 (85%), the tactile task in 35/41 (85%) and the mixed task in 26/41 (63%); the mixed task was less sensitive than the other two (p = 0.04). Specificity was 100% for the visual and tactile tasks. Abnormal TDTs were found in 36 of 37 (97.3%) cervical dystonia, 12 of 14 (85.7%) writer's cramp, 8 of 9 (88.8%) blepharospasm, 10 of 11 (90.1%) spasmodic dysphonia patients and 5 of 8 (62.5%) musicians. The visual and tactile tasks were found to be more sensitive than the mixed task. Temporal discrimination threshold results were comparable across common adult-onset primary torsion dystonia phenotypes, with lower sensitivity in the musicians.en_GB
dc.language.isoenen
dc.rightsArchived with thanks to Journal of neurologyen_GB
dc.subject.meshAdult-
dc.subject.meshAge of Onset-
dc.subject.meshAged-
dc.subject.meshAging-
dc.subject.meshBasal Ganglia Diseases-
dc.subject.meshBlepharospasm-
dc.subject.meshDiscrimination (Psychology)-
dc.subject.meshDysphonia-
dc.subject.meshDystonia Musculorum Deformans-
dc.subject.meshDystonic Disorders-
dc.subject.meshElectric Stimulation-
dc.subject.meshFemale-
dc.subject.meshHumans-
dc.subject.meshMale-
dc.subject.meshMiddle Aged-
dc.subject.meshPhenotype-
dc.subject.meshPhotic Stimulation-
dc.subject.meshPhysical Stimulation-
dc.subject.meshPsychomotor Performance-
dc.subject.meshTime Perception-
dc.subject.meshTorticollis-
dc.subject.meshYoung Adult-
dc.titleTemporal discrimination thresholds in adult-onset primary torsion dystonia: an analysis by task type and by dystonia phenotype.en_GB
dc.typeArticleen
dc.contributor.departmentDepartment of Neurology, St. Vincent's University Hospital, Elm Park, Dublin 4, Ireland. davidbradley@physicians.ieen_GB
dc.identifier.journalJournal of neurologyen_GB
dc.description.provinceLeinsteren

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