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Role of the dopamine D5 receptor (DRD5) as a susceptibility gene for cervical dystonia
  1. F Brancati1,
  2. E M Valente2,
  3. M Castori1,
  4. N Vanacore3,
  5. M Sessa4,
  6. G Galardi5,
  7. A Berardelli6,
  8. A R Bentivoglio7,
  9. G Defazio8,
  10. P Girlanda9,
  11. G Abbruzzese10,
  12. A Albanese7,
  13. B Dallapiccola2,
  14. and the Italian Movement Disorder Study Group
  1. 1Department of Experimental Medicine and Pathology, University “La Sapienza”, Rome
  2. 2CSS Hospital, IRCCS, San Giovanni Rotondo, CSS-Mendel Institute, Rome, Italy
  3. 3Laboratory of Epidemiology and Biostatistics, National Institute of Health, Rome
  4. 4Istituto Scientifico H.S. Raffaele, Milan
  5. 5Neurorehabilitation Unit, IRCCS Fondazione Salvatore Maugeri, Gussago
  6. 6Department of Neurological Sciences, University “La Sapienza”, Rome
  7. 7Institute of Neurology, Catholic University, Rome
  8. 8Department of Neurological Sciences, University of Bari
  9. 9Department of Neurosciences, Psychiatry and Anaesthesiology, University of Messina
  10. 10Department of Neurological Sciences and Vision, University of Genoa
  1. Correspondence to:
 Dr F Brancati, CSS Mendel Institute, Viale Regina Margherita, 261, 00198 Rome, Italy; 
 f.brancati{at}css-mendel.it

Abstract

Cervical dystonia (CD) is one of the most common forms of primary dystonia. The pathogenesis of the disease is still unknown, although evidence suggests a role for genetic factors. Recently, a polymorphism in the dopamine D5 receptor (DRD5) gene has been associated with the disease in a British population, suggesting that DRD5 is a susceptibility gene for CD. To confirm these data, we performed a case-control study of the microsatellite (CT/GT/GA)n at the DRD5 locus in 104 Italian CD patients and 104 healthy controls. The frequency of allele 4 was higher in the CD patients compared to the controls. This resulted in a twofold increased risk of developing the disease. These results provide further evidence of an association between DRD5 and cervical dystonia, supporting the involvement of the dopamine pathway in the pathogenesis of CD.

  • cervical dystonia
  • association study
  • dopamine D5 receptor
  • CD, cervical dystonia
  • CI, confidence interval
  • DRD5, dopamine D5 receptor
  • OR, odds ratio
  • PTD, primary torsion dystonia

https://doi.org/10.1136/jnnp.74.5.665

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