Article
Assessing the role of DRD5 and DYT1 in two different case-control series with primary blepharospasm.
Movement disorders : official journal of the Movement Disorder Society - 15 Jan 2007
Clarimon Jordi, Brancati Francesco, Peckham Elizabeth, Valente Enza Maria, Dallapiccola Bruno, Abruzzese Giovanni, Girlanda Paolo, Defazio Giovanni, Berardelli Alfredo, Hallett Mark, Singleton Andrew B
Abstract excerpt
Primary blepharospasm is a common adult-onset focal dystonia. Polymorphisms of the genes encoding TorsinA (DYT1) and the D5 dopamine receptor (DRD5) have previously been associated with lifetime risk for focal dystonia. We describe here experiments testing common variability within these two genes in two independent cohorts of Italian and North American patients with primary blepharospasm. We have failed to...
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