A polymorphism in the dopamine receptor DRD5 is associated with blepharospasm.
case_control · Level III
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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.
Medical subject headings
- Blepharospasm
- Polymorphism, Genetic
- Receptors, Dopamine D1