Assessing the role of DRD5 and DYT1 in two different case-control series with primary blepharospasm

Movement Disorders

Volumn 22, Issue 2, 2007, Pages 162-166

  Clarimon, Jordi ^a,j   Brancati, Francesco ^b,c,d   Peckham, Elizabeth ^e   Valente, Enza Maria ^b   Dallapiccola, Bruno ^b,d   Abruzzese, Giovanni ^f   Girlanda, Paolo ^g   Defazio, Giovanni ^h   Berardelli, Alfredo ⁱ   Hallett, Mark ^e   Singleton, Andrew B ^a  

^a NATIONAL INSTITUTE ON AGING   (United States)

^b Mendel Institute   (Italy)

^c UNIVERSITY OF CHIETI   (Italy)

^d SAPIENZA UNIVERSITY OF ROME   (Italy)

^e NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE   (United States)

^f UNIVERSITY OF GENOA   (Italy)

^g UNIVERSITY OF MESSINA   (Italy)

^h UNIVERSITY OF BARI   (Italy)

ⁱ SAPIENZA UNIVERSITY OF ROME   (Italy)

^j HOSPITAL DE LA SANTA CREU I SANT PAU   (Spain)

more..

Author keywords

Association; Blepharospasm; Case control; DRD5; DYT1; Genetics

Indexed keywords

DOPAMINE 5 RECEPTOR; GLYCOPROTEIN; PROTEIN TORSIN A; UNCLASSIFIED DRUG;

ADULT; AGED; ARTICLE; BLEPHAROSPASM; CASE CONTROL STUDY; CONTROLLED STUDY; DNA POLYMORPHISM; DYSTONIA; ETHNIC DIFFERENCE; FEMALE; GENE FREQUENCY; GENETIC VARIABILITY; GENOTYPE; HAPLOTYPE; HUMAN; MAJOR CLINICAL STUDY; MALE; PRIORITY JOURNAL;

BLEPHAROSPASM; CASE-CONTROL STUDIES; DNA PRIMERS; FEMALE; GENE FREQUENCY; GENOTYPE; HUMANS; LINKAGE DISEQUILIBRIUM; MALE; MICROSATELLITE REPEATS; MIDDLE AGED; MOLECULAR CHAPERONES; POLYMERASE CHAIN REACTION; POLYMORPHISM, GENETIC; RECEPTORS, DOPAMINE D5; SEVERITY OF ILLNESS INDEX;

EID: 33847762857     PISSN: 08853185     EISSN: 15318257     Source Type: Journal    
DOI: 10.1002/mds.21182     Document Type: Article

References (17)

1. Defazio G, Martino D, Aniello MS, et al. A family study on primary blepharospasm. J Neurol Neurosurg Psychiatry 2006;77:252-254.
2. Defazio G, Brancati F, Valente EM, et al. Familial blepharospasm is inherited as an autosomal dominant trait and relates to a novel unassigned gene. Mov Disord 2003;18:207-212.
3. Nemeth AH. The genetics of primary dystonias and related disorders. Brain 2002;125:695-721.
4. Bressman SB. Dystonia: phenotypes and genotypes. Rev Neurol (Paris) 2003;159:849-856.
5. Ozelius LJ, Hewett JW, Page CE, et al. The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein. Nat Genet 1997;17:40-48.
6. Klein C, Brin MF, de Leon D, et al. De novo mutations (GAG deletion) in the DYT1 gene in two non-Jewish patients with early-onset dystonia. Hum Mol Genet 1998;7:1133-1136.
7. Valente EM, Warner TT, Jarman PR, et al. The role of DYT1 in primary torsion dystonia in Europe. Brain 1998;121(Pt. 12):2335-2339.
8. Clarimon J, Asgeirsson H, Singleton A, et al. Torsin A haplotype predisposes to idiopathic dystonia. Ann Neurol 2005;57:765-767.
9. Hague S, Klaffke S, Clarimon J, et al. Lack of association with Torsin A haplotype in German patients with sporadic dystonia. Neurology 2006;66:951-952.
10. Sibbing D, Asmus F, Konig IR, et al. Candidate gene studies in focal dystonia. Neurology 2003;61:1097-1101.
11. Misbahuddin A, Placzek MR, Chaudhuri KR, Wood NW, Bhatia KP, Warner TT. A polymorphism in the dopamine receptor DRD5 is associated with blepharospasm. Neurology 2002;58: 124-126.
12. Brancati F, Valente EM, Castori M, et al. Role of the dopamine D5 receptor (DRD5) as a susceptibility gene for cervical dystonia. J Neurol Neurosurg Psychiatry 2003;74:665-666.
13. Placzek MR, Misbahuddin A, Chaudhuri KR, Wood NW, Bhatia KP, Warner TT. Cervical dystonia is associated with a polymorphism in the dopamine (D5) receptor gene. J Neurol Neurosurg Psychiatry 2001;71:262-264.
14. Fahn S, Bressman SB, Marsden CD. Classification of dystonia. In: Fahn S, Marsden CD, DeLong MR, editors. Dystonia 3. Vol. 78. Philadelphia: Lippincott-Raven; 1998. p 1-10.
15. Ozelius LJ, Page CE, Klein C, et al. The TOR1A (DYT1) gene family and its role in early onset torsion dystonia. Genomics 1999;62:377-384.
16. Dudbridge F. Pedigree disequilibrium tests for multilocus haplotypes. Genet Epidemiol 2003;25:115-121.
17. Stephens M, Donnelly P. A comparison of bayesian methods for haplotype reconstruction from population genotype data. Am J Hum Genet 2003;73:1162-1169.