Evaluation of the role of the D2 dopamine receptor in myoclonus dystonia

Annals of Neurology

Volumn 47, Issue 3, 2000, Pages 369-373

  Klein, Christine ^a,b   Gurvich, Nadia ^c,e   Sena Esteves, Miguel ^a   Bressman, Susan ^d   Brin, Mitchell F ^c   Ebersole, Barbara J ^c   Fink, Stephen ^a   Forsgren, Lars ^f   Friedman, Jennifer ^a   Grimes, David ⁱ   Holmgren, Gosta ^f   Kyllerman, Mårtin ^g   Lang, Anthony E ⁱ   De Leon, Deborah ^d   Leung, Joanne ^a   Prioleau, Cassandra ^c   Raymond, Deborah ^d   Sanner, Gunnar ^h   Saunders Pullman, Rachel ^d   Vieregge, Peter ^g   Wahlström, Jan ^g   Breakefield, Xandra O ^a   Kramer, Patricia L ^j   Ozelius, Laurie J ^a   Sealfon, Stuart C ^c   more..

^a MASSACHUSETTS GENERAL HOSPITAL   (United States)

^b UNIVERSITY OF LÜBECK   (Germany)

^c MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^d BETH ISRAEL MEDICAL CENTER   (United States)

^e UNIVERSITY OF PENNSYLVANIA   (United States)

^f UMEÅ UNIVERSITY   (Sweden)

^g UNIVERSITY OF GOTHENBURG   (Sweden)

^h CENTRAL HOSPITAL   (Sweden)

ⁱ UNIVERSITY OF TORONTO   (Canada)

^j OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

DOPAMINE 2 RECEPTOR;

AMINO ACID SUBSTITUTION; ARTICLE; CHROMOSOME 11Q; CLINICAL ARTICLE; CONTROLLED STUDY; DYSTONIA; GENETIC LINKAGE; HUMAN; MYOCLONUS; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SIGNAL TRANSDUCTION;

EID: 0034010735     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/1531-8249(200003)47:3<369::AID-ANA14>3.0.CO;2-9     Document Type: Article

References (18)

1. Quinn NP. Essential myoclonus and myoclonic dystonia. Mov Disord 1996;11:119-124
2. Quinn NP, Rothwell JC, Thompson PD, Marsden CD. Hereditary myoclonic dystonia, hereditary torsion dystonia and hereditary essential myoclonus: an area of confusion. Adv Neurol 1988;50:391-401
3. Gasser T. Inherited myoclonus-dystonia syndrome. Adv Neurol 1998;78:325-334
4. Klein C, Brin MF, Kramer P, et al. Association of a missense change in the D2 dopamine receptor with myoclonus dystonia. Proc Natl Acad Sci USA 1999;96:5173-5176
5. Mahloudji M, Pikielny RT. Hereditary essential myoclonus. Brain 1967;90:669-674
6. O'Connell JR, Weeks DE. The VITESSE algorithm for rapid exact multilocus linkage analysis via genotype set-recording and fuzzy inheritance. Nat Genet 1995;11:402-408
7. Watts VJ, Wiens BL, Cumbay MG, et al. Selective activation of Galphao by D2L dopamine receptors in NS20Y neuroblastoma cells. J Neurosci 1998;18:8692-8699
8. Sealfon SC, Chi L, Ebersole BJ, et al. Related contribution of specific helix 2 and 7 residues to conformational activation of the serotonin 5-HT2A receptor. J Biol Chem 1995;270:16683-16688
9. Conklin BR, Farfel Z, Lustig KD, et al. Substitution of three amino acids switches receptor specificity of Gq alpha to that of Gi alpha. Nature 1993;363:274-276
10. Kyllerman M, Forsgren L, Sanner G, et al. Alcohol-responsive myoclonic dystonia in a large family: dominant inheritance and phenotypic variation. Mov Disord 1990;5:270-279
11. Nygaard TG, Raymond D, Chen C, et al. Localization of a gene for myoclonus-dystonia to chromosome 7q21-q31. Ann Neurol 1999;46:794-798
12. Klein C, Breakefield XO, Ozelius LJ. Genetics of primary dystonia. Semin Neurol 1999;19:271-280
13. Missale C, Nash SR, Robinson SW, et al. Dopamine receptors: from structure to function. Physiol Rev 1998;78:189-225
14. Arinami T, Gao M, Hamaguchi H, Toru M. A functional polymorphism in the promoter region of the dopamine D2 receptor gene is associated with schizophrenia. Hum Mol Genet 1997;6:577-582
15. Blum K, Noble EP, Sheridan PJ, et al. Genetic predisposition in alcoholism: association of the D2 dopamine receptor TaqI B1 RFLP with severe alcoholics. Alcohol 1993;10:59-67
16. Noble EP, Zhang X, Ritchie T, et al. D2 dopamine receptor and GABA(A) receptor beta3 subunit genes and alcoholism. Psychiatry Res 1998;81:133-147
17. Picetti R, Saiardi A, Abdel Samad T, et al. Dopamine D2 receptors in signal transduction and behavior. Crit Rev Neurobiol 1997;11:121-142
18. Itokawa M, Arinami T, Futamura N, et al. A structural polymorphism of human dopamine D2 receptor, D2(Ser311→Cys). Biochem Biophys Res Commun 1993;196:1369-1375