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

  1. Giovanni Defazio MD1,*,
  2. Mar Matarin PhD2,
  3. Elizabeth L. Peckham DO3,
  4. Davide Martino PhD1,
  5. Enza M. Valente PhD4,
  6. Andrew Singleton PhD2,
  7. Anthony Crawley BS3,
  8. Maria Stella Aniello MD1,
  9. Francesco Brancati PhD4,
  10. Giovanni Abbruzzese MD5,
  11. Paolo Girlanda MD6,
  12. Paolo Livrea MD1,
  13. Mark Hallett MD3,
  14. Alfredo Berardelli MD7

Article first published online: 6 FEB 2009

DOI: 10.1002/mds.22471

Issue

Movement Disorders

Movement Disorders

Volume 24, Issue 4, pages 613–616, 15 March 2009

Additional Information

How to Cite

Defazio, G., Matarin, M., Peckham, E. L., Martino, D., Valente, E. M., Singleton, A., Crawley, A., Aniello, M. S., Brancati, F., Abbruzzese, G., Girlanda, P., Livrea, P., Hallett, M. and Berardelli, A. (2009), The TOR1A polymorphism rs1182 and the risk of spread in primary blepharospasm. Mov. Disord., 24: 613–616. doi: 10.1002/mds.22471

Author Information

  1. 1

    Department of Neurological and Psychiatric Sciences, University of Bari, Italy

  2. 2

    Molecular Genetics Unit, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, USA

  3. 3

    Human Motor Control Section, NINDS, National Institutes of Health, Bethesda, Maryland, USA

  4. 4

    Neurogenetics Unit, IRCCS CSS-Mendel Institute, Rome, Italy

  5. 5

    Department of Neurosciences, Ophthalmology, and Genetics, University of Genoa, Italy

  6. 6

    Department of Neurosciences, Psychiatry, and Anesthesiology, University of Messina, Italy

  7. 7

    Department of Neurological Sciences and NEUROMED Institute, “Sapienza” University, Rome, Italy

*Department of Neurological and Psychiatric Sciences, University of Bari, Policlinico, Piazza Giulio Cesare 1 70124 Bari, Italy

  1. †

    Potential conflict of interest: None reported.

Publication History

  1. Issue published online: 24 MAR 2009
  2. Article first published online: 6 FEB 2009
  3. Manuscript Accepted: 4 JAN 2009
  4. Manuscript Revised: 8 DEC 2008
  5. Manuscript Received: 7 OCT 2008

Funded by

  • Comitato Promotore Telethon, Italy. Grant Number: GGP05165
  • Benign Essential Blepharospasm Research Foundation, Beaumont, TX, USA
  • Intramural Research Programs of the National Institute on Aging
  • National Institute of Neurological Disorders and Stroke
  • National Institutes of Health: Department of Health and Human Service, Bethesda, MD, USA. Grant Number: project number Z01 AG000957-05

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Keywords:

  • TOR1A;
  • single-nucleotide polymorphisms;
  • blepharospasm;
  • primary adult-onset;
  • dystonia;
  • spread

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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