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

Neurology

Research output: Contribution to journal › Article › peer-review

37 Scopus citations

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 (US)
Pages (from-to)	369-373
Number of pages	5
Journal	Annals of Neurology
Volume	47
Issue number	3
DOIs	https://doi.org/10.1002/1531-8249(200003)47:3<369::AID-ANA14>3.0.CO;2-9
State	Published - 2000

ASJC Scopus subject areas

Neurology
Clinical Neurology

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

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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

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

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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.",

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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

Y1 - 2000

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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.

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

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