Role of the dopamine D5 receptor (DRD5) as a susceptibility gene for cervical dystonia

F. Brancati, E. M. Valente, M. Castori, N. Vanacore, M. Sessa, G. Galardi, A. Berardelli, A. R. Bentivoglio, G. Defazio, P. Girlanda, G. Abbruzzese, A. Albanese, B. Dallapiccola

Research output: Contribution to journalArticle

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 languageEnglish
Pages (from-to)665-666
Number of pages2
JournalJournal of Neurology, Neurosurgery and Psychiatry
Volume74
Issue number5
DOIs
Publication statusPublished - May 1 2003

Fingerprint

Dopamine D5 Receptors
Torticollis
Genes
Dystonic Disorders
Gene Frequency
Microsatellite Repeats
Case-Control Studies
Dopamine

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 journalArticle

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. / Role of the dopamine D5 receptor (DRD5) as a susceptibility gene for cervical dystonia. In: Journal of Neurology, Neurosurgery and Psychiatry. 2003 ; Vol. 74, No. 5. pp. 665-666.
@article{e9a7588306074b16b8ef22d17668a947,
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.",
author = "F. Brancati and Valente, {E. M.} and M. Castori and N. Vanacore and M. Sessa and G. Galardi and A. Berardelli and Bentivoglio, {A. R.} and G. Defazio and P. Girlanda and G. Abbruzzese and A. Albanese and B. Dallapiccola",
year = "2003",
month = "5",
day = "1",
doi = "10.1136/jnnp.74.5.665",
language = "English",
volume = "74",
pages = "665--666",
journal = "Journal of Neurology, Neurosurgery and Psychiatry",
issn = "0022-3050",
publisher = "BMJ Publishing Group",
number = "5",

}

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.

UR - http://www.scopus.com/inward/record.url?scp=0037961851&partnerID=8YFLogxK

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 -