A polymorphism in the dopamine receptor DRD5 is associated with blepharospasm

Neurology. 2002 Jan 8;58(1):124-6. doi: 10.1212/wnl.58.1.124.

Abstract

Abnormalities in dopamine neurotransmission are thought to underlie the generation of dystonic movements. The authors performed a case-control allelic association study in patients with the focal dystonia blepharospasm, using polymorphisms in the dopamine receptor and transporter genes. Allele 2 of a DRD5 dinucleotide repeat was significantly associated with blepharospasm. This may indicate a pathogenic role for this receptor.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Alleles
  • Blepharospasm / genetics*
  • Dinucleotide Repeats
  • Female
  • Humans
  • Male
  • Middle Aged
  • Polymorphism, Genetic*
  • Receptors, Dopamine D1 / genetics*
  • Receptors, Dopamine D5

Substances

  • DRD5 protein, human
  • Receptors, Dopamine D1
  • Receptors, Dopamine D5