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

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    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.
    Issue Date
    2012-02-01T10:28:16Z
    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
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    Citation
    Brain. 2011 Sep;134(Pt 9):2656-63. Epub 2011 Aug 11.
    Journal
    Brain : a journal of neurology
    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
    ISSN
    1460-2156 (Electronic)
    0006-8950 (Linking)
    ae974a485f413a2113503eed53cd6c53
    10.1093/brain/awr194
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