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

• Published in: Annals of neurology 2000-03, Vol.47 (3), p.369-373
• Main Authors: Klein, Christine, Gurvich, Nadia, Sena-Esteves, Miguel, Bressman, Susan, Brin, Mitchell F., Ebersole, Barbara J., Fink, Stephen, Forsgren, Lars, Friedman, Jennifer, Grimes, David, Holmgren, Gosta, Kyllerman, Mårtin, Lang, Anthony E., De Leon, Deborah, Leung, Joanne, Prioleau, Cassandra, Raymond, Deborah, Sanner, Gunnar, Saunders-Pullman, Rachel, Vieregge, Peter, Wahlström, Jan, Breakefield, Xandra O., Kramer, Patricia L., Ozelius, Laurie J., Sealfon, Stuart C.
• Format: Article
• Language: English
• Subjects: Adolescent; Adult; Age of Onset; Biological and medical sciences; Child; Child, Preschool; Diseases of striated muscles. Neuromuscular diseases; DNA - analysis; Dystonia - genetics; Female; Genetic Linkage - genetics; Humans; Male; Medical sciences; Myoclonus - genetics; Neurology; Pedigree; Phenotype; Receptors, Dopamine D2 - genetics
• ISSN: 0364-5134; 1531-8249
• DOI: 10.1002/1531-8249(200003)47:3<369::AID-ANA14>3.0.CO;2-9

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. Ann Neurol 2000;47:369–373