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Neurology 2002;58:124-126
© 2002 American Academy of Neurology
Brief Communications

A polymorphism in the dopamine receptor DRD5 is associated with blepharospasm

A. Misbahuddin, MRCP, M.R. Placzek, BSc, K.R. Chaudhuri, MD, N.W. Wood, PhD FRCP;, K.P. Bhatia, MD and T.T. Warner, PhD MRCP

From the Department of Clinical Neurosciences (Drs. Misbahuddin, Placzek, and Warner), Royal Free and University College Medical School; Department of Neurology (Dr. Chaudhuri), Kings College Hospital and Institute of Psychiatry; and Institute of Neurology (Drs. Bhatia, Warner, and Wood), London, United Kingdom.

Address correspondence and reprint requests to Dr. T.T. Warner, Department of Clinical Neurosciences, Royal Free and University College Medical School, Rowland Hill Street, London NW3 2PF, UK; e-mail: twarner{at}rfc.ucl.ac.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.




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