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

Christine Klein; Nadia Gurvich; Miguel Sena-Esteves; Susan Bressman; Mitchell F. Brin; Barbara J. Ebersole; Stephen Fink; Lars Forsgren; Jennifer Friedman; David Grimes; Gosta Holmgren; Mårtin Kyllerman; Anthony E. Lang; Deborah De Leon; Joanne Leung; Cassandra Prioleau; Deborah Raymond; Gunnar Sanner; Rachel Saunders-Pullman; Peter Vieregge; Jan Wahlström; Xandra O. Breakefield; Patricia L. Kramer; Laurie J. Ozelius; Stuart C. Sealfon

doi:10.1002/1531-8249(200003)47:3<369::AID-ANA14>3.0.CO;2-9

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

Christine Klein, Nadia Gurvich, Miguel Sena-Esteves, Susan Bressman, Mitchell F. Brin, Barbara J. Ebersole, Stephen Fink, Lars Forsgren, Jennifer Friedman, David Grimes, Gosta Holmgren, Mårtin Kyllerman, Anthony E. Lang, Deborah De Leon, Joanne Leung, Cassandra Prioleau, Deborah Raymond, Gunnar Sanner, Rachel Saunders-Pullman, Peter ViereggeJan Wahlström, Xandra O. Breakefield, Patricia L. Kramer, Laurie J. Ozelius, Stuart C. Sealfon^*

^*Corresponding author for this work

Institute of Neurogenetics

25 Citations (Scopus)

Abstract

A novel Val¹⁵⁴→Ile mutation in the D2 dopamine receptor (DRD2) on chromosome 11q23 has recently been shown to be associated with myoclonus dystonia (M-D) in one large family. Sequence analysis of the DRD2 gene in 5 M-D patients from different families did not reveal any mutations, nor was there evidence of linkage to the 11q23 region in the DRD2 gene in four other families. Receptor binding and signal transduction assays of the DRD2 mutant and wild-type receptors revealed identical agonist and antagonist affinities and functional responses. These studies suggest that M-D is genetically heterogeneous. The molecular mechanisms through which the Val→Ile mutation may contribute to M-D remain to be determined.

Original language	English
Journal	Annals of Neurology
Volume	47
Issue number	3
Pages (from-to)	369-373
Number of pages	5
ISSN	0364-5134
DOIs	https://doi.org/10.1002/1531-8249(200003)47:3<369::AID-ANA14>3.0.CO;2-9
Publication status	Published - 21.03.2000

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

Access to Document

10.1002/1531-8249(200003)47:3<369::AID-ANA14>3.0.CO;2-9

Cite this

Klein, C., Gurvich, N., Sena-Esteves, M., Bressman, S., Brin, M. F., Ebersole, B. J., Fink, S., Forsgren, L., Friedman, J., Grimes, D., Holmgren, G., Kyllerman, M., Lang, A. E., De Leon, D., Leung, J., Prioleau, C., Raymond, D., Sanner, G., Saunders-Pullman, R., ... Sealfon, S. C. (2000). Evaluation of the role of the D2 dopamine receptor in myoclonus dystonia. Annals of Neurology, 47(3), 369-373. https://doi.org/10.1002/1531-8249(200003)47:3<369::AID-ANA14>3.0.CO;2-9

@article{172351e2feec4f0982f12f932ec4e1bd,

title = "Evaluation of the role of the D2 dopamine receptor in myoclonus dystonia",

abstract = "A novel Val154→Ile mutation in the D2 dopamine receptor (DRD2) on chromosome 11q23 has recently been shown to be associated with myoclonus dystonia (M-D) in one large family. Sequence analysis of the DRD2 gene in 5 M-D patients from different families did not reveal any mutations, nor was there evidence of linkage to the 11q23 region in the DRD2 gene in four other families. Receptor binding and signal transduction assays of the DRD2 mutant and wild-type receptors revealed identical agonist and antagonist affinities and functional responses. These studies suggest that M-D is genetically heterogeneous. The molecular mechanisms through which the Val→Ile mutation may contribute to M-D remain to be determined.",

author = "Christine Klein and Nadia Gurvich and Miguel Sena-Esteves and Susan Bressman and Brin, {Mitchell F.} and Ebersole, {Barbara J.} and Stephen Fink and Lars Forsgren and Jennifer Friedman and David Grimes and Gosta Holmgren and M{\aa}rtin Kyllerman and Lang, {Anthony E.} and {De Leon}, Deborah and Joanne Leung and Cassandra Prioleau and Deborah Raymond and Gunnar Sanner and Rachel Saunders-Pullman and Peter Vieregge and Jan Wahlstr{\"o}m and Breakefield, {Xandra O.} and Kramer, {Patricia L.} and Ozelius, {Laurie J.} and Sealfon, {Stuart C.}",

year = "2000",

month = mar,

day = "21",

doi = "10.1002/1531-8249(200003)47:3<369::AID-ANA14>3.0.CO;2-9",

language = "English",

volume = "47",

pages = "369--373",

journal = "Annals of Neurology",

issn = "0364-5134",

number = "3",

}

Klein, C, Gurvich, N, Sena-Esteves, M, Bressman, S, Brin, MF, Ebersole, BJ, Fink, S, Forsgren, L, Friedman, J, Grimes, D, Holmgren, G, Kyllerman, M, Lang, AE, De Leon, D, Leung, J, Prioleau, C, Raymond, D, Sanner, G, Saunders-Pullman, R, Vieregge, P, Wahlström, J, Breakefield, XO, Kramer, PL, Ozelius, LJ & Sealfon, SC 2000, 'Evaluation of the role of the D2 dopamine receptor in myoclonus dystonia', Annals of Neurology, vol. 47, no. 3, pp. 369-373. https://doi.org/10.1002/1531-8249(200003)47:3<369::AID-ANA14>3.0.CO;2-9

TY - JOUR

T1 - Evaluation of the role of the D2 dopamine receptor in myoclonus dystonia

AU - Klein, Christine

AU - Gurvich, Nadia

AU - Sena-Esteves, Miguel

AU - Bressman, Susan

AU - Brin, Mitchell F.

AU - Ebersole, Barbara J.

AU - Fink, Stephen

AU - Forsgren, Lars

AU - Friedman, Jennifer

AU - Grimes, David

AU - Holmgren, Gosta

AU - Kyllerman, Mårtin

AU - Lang, Anthony E.

AU - De Leon, Deborah

AU - Leung, Joanne

AU - Prioleau, Cassandra

AU - Raymond, Deborah

AU - Sanner, Gunnar

AU - Saunders-Pullman, Rachel

AU - Vieregge, Peter

AU - Wahlström, Jan

AU - Breakefield, Xandra O.

AU - Kramer, Patricia L.

AU - Ozelius, Laurie J.

AU - Sealfon, Stuart C.

PY - 2000/3/21

Y1 - 2000/3/21

N2 - A novel Val154→Ile mutation in the D2 dopamine receptor (DRD2) on chromosome 11q23 has recently been shown to be associated with myoclonus dystonia (M-D) in one large family. Sequence analysis of the DRD2 gene in 5 M-D patients from different families did not reveal any mutations, nor was there evidence of linkage to the 11q23 region in the DRD2 gene in four other families. Receptor binding and signal transduction assays of the DRD2 mutant and wild-type receptors revealed identical agonist and antagonist affinities and functional responses. These studies suggest that M-D is genetically heterogeneous. The molecular mechanisms through which the Val→Ile mutation may contribute to M-D remain to be determined.

AB - A novel Val154→Ile mutation in the D2 dopamine receptor (DRD2) on chromosome 11q23 has recently been shown to be associated with myoclonus dystonia (M-D) in one large family. Sequence analysis of the DRD2 gene in 5 M-D patients from different families did not reveal any mutations, nor was there evidence of linkage to the 11q23 region in the DRD2 gene in four other families. Receptor binding and signal transduction assays of the DRD2 mutant and wild-type receptors revealed identical agonist and antagonist affinities and functional responses. These studies suggest that M-D is genetically heterogeneous. The molecular mechanisms through which the Val→Ile mutation may contribute to M-D remain to be determined.

UR - http://www.scopus.com/inward/record.url?scp=0034010735&partnerID=8YFLogxK

U2 - 10.1002/1531-8249(200003)47:3<369::AID-ANA14>3.0.CO;2-9

DO - 10.1002/1531-8249(200003)47:3<369::AID-ANA14>3.0.CO;2-9

M3 - Journal articles

C2 - 10716258

AN - SCOPUS:0034010735

SN - 0364-5134

VL - 47

SP - 369

EP - 373

JO - Annals of Neurology

JF - Annals of Neurology

IS - 3

ER -

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

Abstract

UN SDGs

Access to Document

Other files and links

Fingerprint

Cite this