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

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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: PMID:11781417   (View Abstract at PubMed)

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.



RGD Manual Disease Annotations    Click to see Annotation Detail View

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
DRD5Humanblepharospasm  IAGP DNA:repeatRGD 
Drd5Ratblepharospasm  ISODRD5 (Homo sapiens)DNA:repeatRGD 
Drd5Mouseblepharospasm  ISODRD5 (Homo sapiens)DNA:repeatRGD 

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