UCL  IRIS
Institutional Research Information Service
UCL Logo
Please report any queries concerning the funding data grouped in the sections named "Externally Awarded" or "Internally Disbursed" (shown on the profile page) to your Research Finance Administrator. Your can find your Research Finance Administrator at https://www.ucl.ac.uk/finance/research/rs-contacts.php by entering your department
Please report any queries concerning the student data shown on the profile page to:

Email: portico-services@ucl.ac.uk

Help Desk: http://www.ucl.ac.uk/ras/portico/helpdesk
Publication Detail
Cervical dystonia is associated with a polymorphism in the dopamine (D5) receptor gene
  • Publication Type:
    Journal article
  • Publication Sub Type:
    Article
  • Authors:
    Placzek MR, Misbahuddin A, Chaudhuri KR, Wood NW, Bhatia KP, Warner TT
  • Publication date:
    2001
  • Pagination:
    262, 264
  • Journal:
    Journal of Neurology, Neurosurgery and Psychiatry
  • Volume:
    71
  • Issue:
    2
  • Print ISSN:
    0022-3050
  • Keywords:
    ADULT-ONSET, Allele, allele frequencies, Alleles, allelic association, Association, Association study, ASSOCIATIONS, British, CARRIAGE, CERVICAL DYSTONIA, CHROMOSOME 18P, cloning, control, correction, D5 dopamine receptor, development, DISTINCT, dopamine, Dopamine Receptor, dystonia, English, family, FOCAL DYSTONIA, FREQUENCIES, FREQUENCY, functional, GENE, Genes, Germany, HAPLOTYPE, Haplotypes, IDIOPATHIC TORSION DYSTONIA, INDICATE, May, MED, Mutation, objective, Other, Patient, patients, Polymorphism, polymorphisms, PROMOTER REGION, Receptor, RECEPTOR GENE, RECEPTOR-GENE, receptors, Role, transporter
Abstract
The objective was to assess whether polymorphisms in the dopamine receptor and transporter genes are associated with development of primary cervical dystonia. A case-control allelic association study is described of 100 patients with cervical dystonia and 100 controls using polymorphisms within D1-5 receptor and dopamine transporter genes. No significant association was found between patient and control allele frequencies for polymorphisms in genes for the D1 to 4 receptors and dopamine transporter. Significant associations, however, were found for alleles 2 and 6 of the D5 receptor micosatellite. Carriage of allele 2 was associated with cervical dystonia, whereas allele 6 was overrepresented in the control group, implying a possible protective effect. The association with allele 6 remained significant after Bonferroni correction. In conclusion, the finding of a significant association with an allele in the D5 receptor gene in patients with cervical dystonia may indicate a pathogenic role of this gene (or neighbouring genes). Further studies are required to confirm this finding and to assess whether these alleles are part of distinct haplotypes associated with other polymorphisms imparting a functional effect on the D5 receptor
Publication data is maintained in RPS. Visit https://rps.ucl.ac.uk
 More search options
UCL Researchers
Author
Clinical and Movement Neurosciences
Author
Clinical and Movement Neurosciences
Author
Clinical and Movement Neurosciences
University College London - Gower Street - London - WC1E 6BT Tel:+44 (0)20 7679 2000

© UCL 1999–2011

Search by