Type

Journal Article

Authors

Michael Hutchinson
Cathal Walsh
Richard B Reilly
Sean O'Riordan
Eavan McGovern
Ines Beiser
John S Butler
Okka Kimmich
Laura Williams
Anna Molloy

Subjects

Medicine & Nursing

Topics
is development environmental factors adult environmental exposure risk factor factor patients sun

Sun exposure is an environmental factor for the development of blepharospasm. (2015)

Abstract Adult-onset isolated focal dystonia may present with various phenotypes including blepharospasm and cervical dystonia. Although inherited in an autosomal dominant manner with a markedly reduced penetrance, environmental factors are considered important in disease penetrance and expression. We observed a marked variation by latitude in the reports of the frequency of patients with blepharospasm relative to those with cervical dystonia; we hypothesised that sun exposure is an environmental risk factor for the development of blepharospasm in genetically susceptible individuals. From published clinic cohorts and epidemiological reports, the ratio of the number of cases of blepharospasm to cervical dystonia (phenotype case ratio) at each study site was analysed with regard to latitude and measures of annual insolation. Meta-regression analyses of the phenotype case ratio to these environmental factors were performed. The phenotype case ratio in 15 eligible study sites over 41° of latitude demonstrated a statistically significant inverse association with latitude (p=0.0004, R(2)=53.5%). There were significant positive associations between the phenotype case ratio and quarter-one (January-March) insolation (p=0.0005, R(2)=53%) and average annual insolation (p=0.003, R(2)=40%). The increase in the blepharospasm: cervical dystonia case ratio with decreasing latitude and increasing insolation suggests that sunlight exposure is an environmental risk factor for the development of blepharospasm (rather than cervical dystonia) in individuals genetically susceptible to adult-onset dystonia.
Collections Ireland -> Trinity College Dublin -> PubMed

Full list of authors on original publication

Michael Hutchinson, Cathal Walsh, Richard B Reilly, Sean O'Riordan, Eavan McGovern, Ines Beiser, John S Butler, Okka Kimmich, Laura Williams, Anna Molloy

Experts in our system

1
Michael Hutchinson
University College Dublin
Total Publications: 79
 
2
Cathal Walsh
Trinity College Dublin
Total Publications: 96
 
3
Richard Reilly
Trinity College Dublin
Total Publications: 185
 
4
Sean O'Riordan
Trinity College Dublin
Total Publications: 20
 
5
Eavan M McGovern
University College Dublin
Total Publications: 12
 
6
Ines Beiser
University College Dublin
Total Publications: 11
 
7
John S Butler
Dublin Institute of Technology
Total Publications: 28
 
8
Okka Kimmich
Trinity College Dublin
Total Publications: 8
 
9
Laura Williams
Trinity College Dublin
Total Publications: 15
 
10
Anna Molloy
Trinity College Dublin
Total Publications: 8