Article
Comparing endophenotypes in adult-onset primary torsion dystonia.
Movement disorders : official journal of the Movement Disorder Society - 15 Jan 2010
Bradley David, Whelan Robert, Walsh Richard, O'Dwyer John, Reilly Richard, Hutchinson Siobhan, Molloy Fiona, Hutchinson Michael
Abstract excerpt
Adult-onset primary torsion dystonia (AOPTD) has an autosomal dominant pattern of inheritance with markedly reduced penetrance; the genetic causes of most forms of AOPTD remain unknown. Endophenotypes, markers of sub-clinical gene carriage, may be of use detecting non-manifesting gene carriers in relatives of AOPTD patients. The aim of this study was to compare the utility of the spatial discrimination threshold...
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