RGD Reference Report - A polymorphism in the dopamine receptor DRD5 is associated with blepharospasm. - Rat Genome Database

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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.
RGD ID: 734899
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.

Annotation

Disease Annotations    
blepharospasm  (IAGP,ISO)

Objects Annotated

Genes (Rattus norvegicus)
Drd5  (dopamine receptor D5)

Genes (Mus musculus)
Drd5  (dopamine receptor D5)

Genes (Homo sapiens)
DRD5  (dopamine receptor D5)


Additional Information