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: 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
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
blepharospasm  IAGP 734899DNA:repeatRGD 
blepharospasm  ISODRD5 (Homo sapiens)734899; 734899DNA: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