title: Role of the dopamine D5 receptor (DRD5) as a susceptibility gene for cervical dystonia.
abstract: Cervical dystonia (CD) is one of the most common forms of primary dystonia. The pathogenesis of the disease is still unknown, although evidence suggests a role for genetic factors. Recently, a polymorphism in the dopamine D5 receptor (DRD5) gene has been associated with the disease in a British population, suggesting that DRD5 is a susceptibility gene for CD. To confirm these data, we performed a case-control study of the microsatellite (CT/GT/GA)(n) at the DRD5 locus in 104 Italian CD patients and 104 healthy controls. The frequency of allele 4 was higher in the CD patients compared to the controls. This resulted in a twofold increased risk of developing the disease. These results provide further evidence of an association between DRD5 and cervical dystonia, supporting the involvement of the dopamine pathway in the pathogenesis of CD.
authors.affiliation: Department of Experimental Medicine and Pathology, University La Sapienza, Rome, Italy. f.brancati@css-medel.it
authors.forename: F
authors.initials: F
authors.lastname: Brancati
authors.forename: E M
authors.initials: EM
authors.lastname: Valente
authors.forename: M
authors.initials: M
authors.lastname: Castori
authors.forename: N
authors.initials: N
authors.lastname: Vanacore
authors.forename: M
authors.initials: M
authors.lastname: Sessa
authors.forename: G
authors.initials: G
authors.lastname: Galardi
authors.forename: A
authors.initials: A
authors.lastname: Berardelli
authors.forename: A R
authors.initials: AR
authors.lastname: Bentivoglio
authors.forename: G
authors.initials: G
authors.lastname: Defazio
authors.forename: P
authors.initials: P
authors.lastname: Girlanda
authors.forename: G
authors.initials: G
authors.lastname: Abbruzzese
authors.forename: A
authors.initials: A
authors.lastname: Albanese
authors.forename: B
authors.initials: B
authors.lastname: Dallapiccola
mesh_terms: D000328:Adult; D016022:Case-Control Studies; D005260:Female; D005787:Gene Frequency / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005838:Genotype; D006801:Humans; D007558:Italy; D008297:Male; D018895:Microsatellite Repeats / Q000235:genetics; D008875:Middle Aged; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic / Q000235:genetics; D017447:Receptors, Dopamine D1 / Q000235:genetics*; D050641:Receptors, Dopamine D5; D014103:Torticollis / Q000235:genetics*
chemical_list: C493605:DRD5 protein, human; D017447:Receptors, Dopamine D1; D050641:Receptors, Dopamine D5