Type

Journal Article

Authors

Michael Hutchinson
Sean O'Riordan
Richard B Reilly
Cathal Walsh
Mark J Edwards
Tim Lynch
Daniel G Healy
Helena Moore
Fiona Molloy
Niall Byrne
and 4 others

Subjects

Medicine & Nursing

Topics
penetrance soft tissue multivariate analysis environmental factors environmental exposure case control study disease dystonia

An evaluation of the role of environmental factors in the disease penetrance of cervical dystonia. (2014)

Abstract Adult onset primary torsion dystonia (AOPTD) is a poorly penetrant autosomal dominant disorder; most gene carriers are non-manifesting despite having reached an adequate age for penetrance. It is hypothesised that genetic, epigenetic and environmental factors may exert protective or deleterious effects on penetrance of AOPTD. By examining environmental exposure history in cervical dystonia patients and their similarly aged unaffected siblings we aimed to determine the role of previous environmental exposures in relation to disease penetrance. A case-control study of 67 patients with cervical dystonia and 67 of their age-matched unaffected siblings was performed. Past environmental exposures were assessed using a detailed 124-question standardised questionnaire. By univariate analysis, cervical dystonia patients, compared to their unaffected siblings, had an increased frequency of a history of car accidents with hospital attendance (OR 10.1, 95% CI 2.1 to 47.4, p=0.004) and surgical episodes (OR 6.5, 95% CI 1.76 to 23.61, p=0.005). Following multivariate analysis, car accidents with hospital attendance (OR 7.3, 95% CI 1.4 to 37.6, p=0.017) and all surgical episodes (OR 4.9, 95% CI 1.24 to 19.31, p=0.023) remained significantly associated with case status. Cervical dystonia patients had a history, prior to symptom onset, of significantly more frequent episodes of surgery and of car accidents with hospital attendance than their age-matched unaffected siblings. Soft tissue trauma appears to increase risk of development of cervical dystonia in genetically predetermined individuals.
Collections Ireland -> Trinity College Dublin -> PubMed

Full list of authors on original publication

Michael Hutchinson, Sean O'Riordan, Richard B Reilly, Cathal Walsh, Mark J Edwards, Tim Lynch, Daniel G Healy, Helena Moore, Fiona Molloy, Niall Byrne and 4 others

Experts in our system

1
Michael Hutchinson
University College Dublin
Total Publications: 79
 
2
Sean O'Riordan
Trinity College Dublin
Total Publications: 20
 
3
Richard Reilly
Trinity College Dublin
Total Publications: 183
 
4
Cathal Walsh
Trinity College Dublin
Total Publications: 94
 
5
Tim Lynch
University College Dublin
Total Publications: 12
 
6
Daniel G Healy
University College Dublin
Total Publications: 4
 
7
Helena Moore
Trinity College Dublin
Total Publications: 4
 
8
Fiona Molloy
University College Dublin
Total Publications: 6