A polymorphism in the dopamine receptor DRD5 is associated with blepharospasm.
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Misbahuddin A, Placzek MR, Chaudhuri KR, Wood NW, Bhatia KP, Warner TT
A polymorphism in the dopamine receptor DRD5 is associated with blepharospasm.
Neurology. 2002 Jan 8;58(1):124-6.
- PubMed ID
- 11781417 [ View in PubMed]
- 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.