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The TOR1A polymorphism rs1182 and the risk of spread in primary blepharospasm

✍ Scribed by Giovanni Defazio; Mar Matarin; Elizabeth L. Peckham; Davide Martino; Enza M. Valente; Andrew Singleton; Anthony Crawley; Maria Stella Aniello; Francesco Brancati; Giovanni Abbruzzese; Paolo Girlanda; Paolo Livrea; Mark Hallett; Alfredo Berardelli

Publisher: John Wiley and Sons
Year: 2009
Tongue: English
Weight: 307 KB
Volume: 24
Category: Article
ISSN: 0885-3185
DOI: 10.1002/mds.22471

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✦ Synopsis

Abstract

We studied the influence of the rs1182 polymorphism of the TOR1A gene on the risk of dystonia spread in two representative cohorts of patients presenting with primary blepharospasm (BSP), one from Italy and the other from the United States of America. The relationship between rs1182 polymorphism and spread was estimated by Kaplan‐Meier survival curves and Cox proportional hazard regression models adjusted by age and sex, age of BSP onset. In both series, patients carrying the T allele (G/T or T/T) in the rs1182 polymorphism were more likely to have dystonia spread as compared with the homozygous carriers of the common G allele. The comparable findings obtained in two independent cohorts support a genetic contribution to BSP spread. © 2009 Movement Disorder Society

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