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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| Published in: | Neurology Vol. 58; no. 1; pp. 124 - 126 |
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| Main Authors: | , , , , , |
| Format: | Journal Article |
| Language: | English |
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Hagerstown, MD
Lippincott Williams & Wilkins
08-01-2002
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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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| AbstractList | 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. |
| Author | CHAUDHURI, K. R MISBAHUDDIN, A PLACZEK, M. R WARNER, T. T WOOD, N. W BHATIA, K. P |
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| Keywords | 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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| SubjectTerms | 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 |
| Title | A polymorphism in the dopamine receptor DRD5 is associated with blepharospasm |
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