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1: Neurology. 2002 Jan 8;58(1):124-6.Click here to read Links

A polymorphism in the dopamine receptor DRD5 is associated with blepharospasm.

Misbahuddin A, Placzek MR, Chaudhuri KR, Wood NW, Bhatia KP, Warner TT.

Department of Clinical Neurosciences, Royal Free and University College Medical School, London, UK.

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.

PMID: 11781417 [PubMed - indexed for MEDLINE]