A polymorphism in the dopamine receptor DRD5 is associated with blepharospasm

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...

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Bibliographic Details
Published in:	Neurology Vol. 58; no. 1; pp. 124 - 126
Main Authors:	MISBAHUDDIN, A, PLACZEK, M. R, CHAUDHURI, K. R, WOOD, N. W, BHATIA, K. P, WARNER, T. T
Format:	Journal Article
Language:	English
Published:	Hagerstown, MD Lippincott Williams & Wilkins 08-01-2002
Subjects:	Adult Alleles Biological and medical sciences Blepharospasm - genetics Dinucleotide Repeats Diseases of striated muscles. Neuromuscular diseases Female Humans Male Medical sciences Middle Aged Neurology Polymorphism, Genetic Receptors, Dopamine D1 - genetics Receptors, Dopamine D5 Human Nervous system diseases Pathogenesis Involuntary movement Striated muscle disease Eye disease Allele Eyelid disease Dystonia Neurological disorder D5 dopamine receptor Blepharospasm Extrapyramidal syndrome Polymorphism
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Summary:	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.
Bibliography:	ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23
ISSN:	0028-3878 1526-632X
DOI:	10.1212/WNL.58.1.124