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.
| Original language | English |
|---|---|
| Pages (from-to) | 665-666 |
| Number of pages | 2 |
| Journal | Journal of Neurology, Neurosurgery and Psychiatry |
| Volume | 74 |
| Issue number | 5 |
| DOIs | |
| Publication status | Published - May 1 2003 |
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ASJC Scopus subject areas
- Neuropsychology and Physiological Psychology
- Neuroscience(all)
- Psychiatry and Mental health
Cite this
Role of the dopamine D5 receptor (DRD5) as a susceptibility gene for cervical dystonia. / Brancati, F.; Valente, E. M.; Castori, M.; Vanacore, N.; Sessa, M.; Galardi, G.; Berardelli, A.; Bentivoglio, A. R.; Defazio, G.; Girlanda, P.; Abbruzzese, G.; Albanese, A.; Dallapiccola, B.
In: Journal of Neurology, Neurosurgery and Psychiatry, Vol. 74, No. 5, 01.05.2003, p. 665-666.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Role of the dopamine D5 receptor (DRD5) as a susceptibility gene for cervical dystonia
AU - Brancati, F.
AU - Valente, E. M.
AU - Castori, M.
AU - Vanacore, N.
AU - Sessa, M.
AU - Galardi, G.
AU - Berardelli, A.
AU - Bentivoglio, A. R.
AU - Defazio, G.
AU - Girlanda, P.
AU - Abbruzzese, G.
AU - Albanese, A.
AU - Dallapiccola, B.
PY - 2003/5/1
Y1 - 2003/5/1
N2 - 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.
AB - 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.
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UR - http://www.scopus.com/inward/citedby.url?scp=0037961851&partnerID=8YFLogxK
U2 - 10.1136/jnnp.74.5.665
DO - 10.1136/jnnp.74.5.665
M3 - Article
C2 - 12700316
AN - SCOPUS:0037961851
VL - 74
SP - 665
EP - 666
JO - Journal of Neurology, Neurosurgery and Psychiatry
JF - Journal of Neurology, Neurosurgery and Psychiatry
SN - 0022-3050
IS - 5
ER -