Type

Journal Article

Authors

Sean O'Riordan
Richard B Reilly
Laurie Ozelius
Mark J Edwards
Cathal Walsh
Daniel G Healy
Tim Lynch
Fiona Molloy
Robert Whelan
Anna Molloy
and 2 others

Subjects

Psychology

Topics
detection basal ganglia gene expression dystonia endophenotype temporal discrimination mutation adult

The endophenotype and the phenotype: temporal discrimination and adult-onset dystonia. (2012)

Abstract The pathogenesis and the genetic basis of adult-onset primary torsion dystonia remain poorly understood. Because of markedly reduced penetrance in this disorder, a number of endophenotypes have been proposed; many of these may be epiphenomena secondary to disease manifestation. Mediational endophenotypes represent gene expression; the study of trait (endophenotypic) rather than state (phenotypic) characteristics avoids the misattribution of secondary adaptive cerebral changes to pathogenesis. We argue that abnormal temporal discrimination is a mediational endophenotype; its use facilitates examination of the effects of age, gender, and environment on disease penetrance in adult-onset dystonia. Using abnormal temporal discrimination in unaffected first-degree relatives as a marker for gene mutation carriage may inform exome sequencing techniques in families with few affected individuals. We further hypothesize that abnormal temporal discrimination reflects dysfunction in an evolutionarily conserved subcortical-basal ganglia circuit for the detection of salient novel environmental change. The mechanisms of dysfunction in this pathway should be a focus for future research in the pathogenesis of adult-onset primary torsion dystonia.
Collections Ireland -> University College Dublin -> PubMed

Full list of authors on original publication

Sean O'Riordan, Richard B Reilly, Laurie Ozelius, Mark J Edwards, Cathal Walsh, Daniel G Healy, Tim Lynch, Fiona Molloy, Robert Whelan, Anna Molloy and 2 others

Experts in our system

1
Sean O'Riordan
Trinity College Dublin
Total Publications: 20
 
2
Richard Reilly
Trinity College Dublin
Total Publications: 183
 
3
Cathal Walsh
Trinity College Dublin
Total Publications: 94
 
4
Daniel G Healy
University College Dublin
Total Publications: 4
 
5
Tim Lynch
University College Dublin
Total Publications: 12
 
6
Fiona Molloy
University College Dublin
Total Publications: 6
 
7
Robert Whelan
Trinity College Dublin
Total Publications: 58
 
8
Anna Molloy
Trinity College Dublin
Total Publications: 8