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.
authors.affiliation: Massachusetts General Hospital, and Department of Neurology, Harvard Medical School, Boston, USA.
authors.forename: C
authors.initials: C
authors.lastname: Klein
authors.forename: N
authors.initials: N
authors.lastname: Gurvich
authors.forename: M
authors.initials: M
authors.lastname: Sena-Esteves
authors.forename: S
authors.initials: S
authors.lastname: Bressman
authors.forename: M F
authors.initials: MF
authors.lastname: Brin
authors.forename: B J
authors.initials: BJ
authors.lastname: Ebersole
authors.forename: S
authors.initials: S
authors.lastname: Fink
authors.forename: L
authors.initials: L
authors.lastname: Forsgren
authors.forename: J
authors.initials: J
authors.lastname: Friedman
authors.forename: D
authors.initials: D
authors.lastname: Grimes
authors.forename: G
authors.initials: G
authors.lastname: Holmgren
authors.forename: M
authors.initials: M
authors.lastname: Kyllerman
authors.forename: A E
authors.initials: AE
authors.lastname: Lang
authors.forename: D
authors.initials: D
authors.lastname: de Leon
authors.forename: J
authors.initials: J
authors.lastname: Leung
authors.forename: C
authors.initials: C
authors.lastname: Prioleau
authors.forename: D
authors.initials: D
authors.lastname: Raymond
authors.forename: G
authors.initials: G
authors.lastname: Sanner
authors.forename: R
authors.initials: R
authors.lastname: Saunders-Pullman
authors.forename: P
authors.initials: P
authors.lastname: Vieregge
authors.forename: J
authors.initials: J
authors.lastname: Wahlström
authors.forename: X O
authors.initials: XO
authors.lastname: Breakefield
authors.forename: P L
authors.initials: PL
authors.lastname: Kramer
authors.forename: L J
authors.initials: LJ
authors.lastname: Ozelius
authors.forename: S C
authors.initials: SC
authors.lastname: Sealfon
mesh_terms: D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D002648:Child; D002675:Child, Preschool; D004247:DNA / Q000032:analysis; D004421:Dystonia / Q000235:genetics*; D005260:Female; D008040:Genetic Linkage / Q000235:genetics; D006801:Humans; D008297:Male; D009207:Myoclonus / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D017448:Receptors, Dopamine D2 / Q000235:genetics*
chemical_list: D017448:Receptors, Dopamine D2; D004247:DNA