Sporadic adult onset primary torsion dystonia is a genetic disorder by the temporal discrimination test.

Hdl Handle:
http://hdl.handle.net/10147/207016
Title:
Sporadic adult onset primary torsion dystonia is a genetic disorder by the temporal discrimination test.
Authors:
Kimmich, Okka; Bradley, 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.
Citation:
Brain. 2011 Sep;134(Pt 9):2656-63. Epub 2011 Aug 11.
Journal:
Brain : a journal of neurology
Issue Date:
1-Feb-2012
URI:
http://hdl.handle.net/10147/207016
DOI:
10.1093/brain/awr194
PubMed ID:
21840890
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
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
ISSN:
1460-2156 (Electronic); 0006-8950 (Linking)

Full metadata record

DC FieldValue Language
dc.contributor.authorKimmich, Okkaen_GB
dc.contributor.authorBradley, Daviden_GB
dc.contributor.authorWhelan, Roberten_GB
dc.contributor.authorMulrooney, Nicolaen_GB
dc.contributor.authorReilly, Richard Ben_GB
dc.contributor.authorHutchinson, Siobhanen_GB
dc.contributor.authorO'Riordan, Seanen_GB
dc.contributor.authorHutchinson, Michaelen_GB
dc.date.accessioned2012-02-01T10:28:16Z-
dc.date.available2012-02-01T10:28:16Z-
dc.date.issued2012-02-01T10:28:16Z-
dc.identifier.citationBrain. 2011 Sep;134(Pt 9):2656-63. Epub 2011 Aug 11.en_GB
dc.identifier.issn1460-2156 (Electronic)en_GB
dc.identifier.issn0006-8950 (Linking)en_GB
dc.identifier.pmid21840890en_GB
dc.identifier.doi10.1093/brain/awr194en_GB
dc.identifier.urihttp://hdl.handle.net/10147/207016-
dc.description.abstractAdult-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.en_GB
dc.language.isoengen_GB
dc.subject.meshAdulten_GB
dc.subject.meshAgeden_GB
dc.subject.meshDiscrimination (Psychology)/*physiologyen_GB
dc.subject.meshDystonia Musculorum Deformans/*genetics/*physiopathologyen_GB
dc.subject.meshFamilyen_GB
dc.subject.meshFemaleen_GB
dc.subject.meshHumansen_GB
dc.subject.meshMaleen_GB
dc.subject.meshMiddle Ageden_GB
dc.subject.mesh*Neuropsychological Testsen_GB
dc.subject.meshPedigreeen_GB
dc.subject.meshTime Perception/*physiologyen_GB
dc.subject.meshYoung Adulten_GB
dc.titleSporadic adult onset primary torsion dystonia is a genetic disorder by the temporal discrimination test.en_GB
dc.contributor.departmentSt. Vincent's University Hospital, Elm Park, Dublin 4, Ireland.en_GB
dc.identifier.journalBrain : a journal of neurologyen_GB
dc.description.provinceLeinster-

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