Sporadic adult onset primary torsion dystonia is a genetic disorder by the temporal discrimination test.
Kimmich, Okka Bradley, David Whelan, Robert Mulrooney, Nicola Reilly, Richard B Hutchinson, Siobhan O'Riordan, Sean Hutchinson, Michael
Kimmich, Okka
Bradley, David
Whelan, Robert
Mulrooney, Nicola
Reilly, Richard B
Hutchinson, Siobhan
O'Riordan, Sean
Hutchinson, Michael
Advisors
Editors
Other Contributors
Date
2012-02-01T10:28:16Z
Date Submitted
Keywords
Other Subjects
Subject Mesh
Adult
Aged
Discrimination (Psychology)/*physiology
Dystonia Musculorum Deformans/*genetics/*physiopathology
Family
Female
Humans
Male
Middle Aged
*Neuropsychological Tests
Pedigree
Time Perception/*physiology
Young Adult
Aged
Discrimination (Psychology)/*physiology
Dystonia Musculorum Deformans/*genetics/*physiopathology
Family
Female
Humans
Male
Middle Aged
*Neuropsychological Tests
Pedigree
Time Perception/*physiology
Young Adult
Planned Date
Start Date
Collaborators
Principal Investigators
Alternative Titles
Publisher
Abstract
Adult-onset primary torsion dystonia is an autosomal dominant disorder with markedly reduced penetrance; patients with sporadic adult-onset primary torsion dystonia are much more prevalent than familial. The temporal discrimination threshold is the shortest time interval at which two stimuli are detected to be asynchronous and has been shown to be abnormal in adult-onset primary torsion dystonia. The aim was to determine the frequency of abnormal temporal discrimination thresholds in patients with sporadic adult-onset primary torsion dystonia and their first-degree relatives. We hypothesized that abnormal temporal discrimination thresholds in first relatives would be compatible with an autosomal dominant endophenotype. Temporal discrimination thresholds were examined in 61 control subjects (39 subjects <50 years of age; 22 subjects >50 years of age), 32 patients with sporadic adult-onset primary torsion dystonia (cervical dystonia n = 30, spasmodic dysphonia n = 1 and Meige's syndrome n = 1) and 73 unaffected first-degree relatives (36 siblings, 36 offspring and one parent) using visual and tactile stimuli. Z-scores were calculated for all subjects; a Z > 2.5 was considered abnormal. Abnormal temporal discrimination thresholds were found in 1/61 (2%) control subjects, 27/32 (84%) patients with adult-onset primary torsion dystonia and 32/73 (44%) unaffected relatives [siblings (20/36; 56%), offspring (11/36; 31%) and one parent]. When two or more relatives were tested in any one family, 22 of 24 families had at least one first-degree relative with an abnormal temporal discrimination threshold. The frequency of abnormal temporal discrimination thresholds in first-degree relatives of patients with sporadic adult-onset primary torsion dystonia is compatible with an autosomal dominant disorder and supports the hypothesis that apparently sporadic adult-onset primary torsion dystonia is genetic in origin.
Language
eng
ISSN
1460-2156 (Electronic)
0006-8950 (Linking)
0006-8950 (Linking)
eISSN
ISBN
DOI
10.1093/brain/awr194
PMID
21840890