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

Research output: Contribution to journalArticlepeer-review

37 Scopus citations


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 languageEnglish (US)
Pages (from-to)369-373
Number of pages5
JournalAnnals of Neurology
Issue number3
StatePublished - 2000
Externally publishedYes

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology


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