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The TOR1A polymorphism rs1182 and the risk of spread in primary blepharospasm |
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| Authors: | Giovanni Defazio MD Mar Matarin PhD Elizabeth L Peckham DO Davide Martino PhD Enza M Valente PhD Andrew Singleton PhD Anthony Crawley BS Maria Stella Aniello MD Francesco Brancati PhD Giovanni Abbruzzese MD Paolo Girlanda MD Paolo Livrea MD Mark Hallett MD Alfredo Berardelli MD |
| Institution: | 1. Department of Neurological and Psychiatric Sciences, University of Bari, Italy;2. Molecular Genetics Unit, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, USA;3. Human Motor Control Section, NINDS, National Institutes of Health, Bethesda, Maryland, USA;4. Neurogenetics Unit, IRCCS CSS‐Mendel Institute, Rome, Italy;5. Department of Neurosciences, Ophthalmology, and Genetics, University of Genoa, Italy;6. Department of Neurosciences, Psychiatry, and Anesthesiology, University of Messina, Italy;7. Department of Neurological Sciences and NEUROMED Institute, “Sapienza” University, Rome, Italy |
| 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 |
| Keywords: | TOR1A single‐nucleotide polymorphisms blepharospasm primary adult‐onset dystonia spread |