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

Authors: Misbahuddin, A  Placzek, MR  Chaudhuri, KR  Wood, NW  Bhatia, KP  Warner, TT 
Citation: Misbahuddin A, etal., Neurology 2002 Jan 8;58(1):124-6.
Pubmed: (View Article at PubMed) PMID:11781417

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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CRRD Object Information
CRRD ID: 734899
Created: 2004-02-03
Species: All species
Last Modified: 2004-02-03
Status: ACTIVE


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