Sporadic adult onset primary torsion dystonia is a genetic disorder by the temporal discrimination test.
Authors
Kimmich, OkkaBradley, David
Whelan, Robert
Mulrooney, Nicola
Reilly, Richard B
Hutchinson, Siobhan
O'Riordan, Sean
Hutchinson, Michael
Affiliation
St. Vincent's University Hospital, Elm Park, Dublin 4, Ireland.Issue Date
2012-02-01T10:28:16ZMeSH
AdultAged
Discrimination (Psychology)/*physiology
Dystonia Musculorum Deformans/*genetics/*physiopathology
Family
Female
Humans
Male
Middle Aged
*Neuropsychological Tests
Pedigree
Time Perception/*physiology
Young Adult
Metadata
Show full item recordCitation
Brain. 2011 Sep;134(Pt 9):2656-63. Epub 2011 Aug 11.Journal
Brain : a journal of neurologyDOI
10.1093/brain/awr194PubMed ID
21840890Abstract
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
engISSN
1460-2156 (Electronic)0006-8950 (Linking)
ae974a485f413a2113503eed53cd6c53
10.1093/brain/awr194
Scopus Count
Collections
Related articles
- Temporal discrimination threshold: VBM evidence for an endophenotype in adult onset primary torsion dystonia.
- Authors: Bradley D, Whelan R, Walsh R, Reilly RB, Hutchinson S, Molloy F, Hutchinson M
- Issue date: 2009 Sep
- Defective temporal processing of sensory stimuli in DYT1 mutation carriers: a new endophenotype of dystonia?
- Authors: Fiorio M, Gambarin M, Valente EM, Liberini P, Loi M, Cossu G, Moretto G, Bhatia KP, Defazio G, Aglioti SM, Fiaschi A, Tinazzi M
- Issue date: 2007 Jan
- 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 RB, Hutchinson S, Molloy F, Hutchinson M
- Issue date: 2012 Jan
- Abnormal tactile temporal discrimination in psychogenic dystonia.
- Authors: Morgante F, Tinazzi M, Squintani G, Martino D, Defazio G, Romito L, Albanese A, Di Matteo A, Quartarone A, Girlanda P, Fiorio M, Berardelli A
- Issue date: 2011 Sep 20
- Temporal discrimination, a cervical dystonia endophenotype: penetrance and functional correlates.
- Authors: Kimmich O, Molloy A, Whelan R, Williams L, Bradley D, Balsters J, Molloy F, Lynch T, Healy DG, Walsh C, O'Riordan S, Reilly RB, Hutchinson M
- Issue date: 2014 May