A polymorphism in the dopamine receptor DRD5 is associated with blepharospasm. |
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| Authors: | A Misbahuddin M R Placzek K R Chaudhuri N W Wood K P Bhatia T T Warner |
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| Institution: | Department of Clinical Neurosciences, Royal Free and University College Medical School, London, UK. |
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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. |
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