Temporal discrimination thresholds in adult-onset primary torsion dystonia: an analysis by task type and by dystonia phenotype.
Bradley, D Whelan, R Kimmich, O O'Riordan, S Mulrooney, N Brady, P Walsh, R Reilly, R B Hutchinson, S Molloy, F
Bradley, D
Whelan, R
Kimmich, O
O'Riordan, S
Mulrooney, N
Brady, P
Walsh, R
Reilly, R B
Hutchinson, S
Molloy, F
Advisors
Editors
Other Contributors
Date
2012-01
Date Submitted
Keywords
Other Subjects
Subject 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
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
Planned Date
Start Date
Collaborators
Principal Investigators
Alternative Titles
Publisher
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.
Language
en
ISSN
1432-1459
eISSN
ISBN
DOI
10.1007/s00415-011-6125-7
PMID
21656045