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 a DRD5 dinucleotide repeat was significantly associated with blepharospasm. This may indicate a pathogenic role for this receptor.
Misbahuddin
A
A
Department of Clinical Neurosciences, Royal Free and University College Medical School, London, UK.
Placzek
M R
MR
Chaudhuri
K R
KR
Wood
N W
NW
Bhatia
K P
KP
Warner
T T
TT
D000328:Adult; D000483:Alleles; D001764:Blepharospasm / Q000235:genetics*; D018900:Dinucleotide Repeats; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D011110:Polymorphism, Genetic; D017447:Receptors, Dopamine D1 / Q000235:genetics*; D050641:Receptors, Dopamine D5
C493605:DRD5 protein, human; D017447:Receptors, Dopamine D1; D050641:Receptors, Dopamine D5