title: A major locus for myoclonus-dystonia maps to chromosome 7q in eight families.
abstract: Myoclonus-dystonia (M-D) is an autosomal dominant disorder characterized by myoclonic and dystonic muscle contractions that are often responsive to alcohol. The dopamine D2 receptor gene (DRD2) on chromosome 11q has been implicated in one family with this syndrome, and linkage to a 28-cM region on 7q has been reported in another. We performed genetic studies, using eight additional families with M-D, to assess these two loci. No evidence for linkage was found for 11q markers. However, all eight of these families showed linkage to chromosome 7 markers, with a combined multipoint LOD score of 11.71. Recombination events in the families define the disease gene within a 14-cM interval flanked by D7S2212 and D7S821. These data provide evidence for a major locus for M-D on chromosome 7q21.
authors.affiliation: Departments of Neurology and Human Genetics, Medical University of Lübeck, Lübeck, Germany.
authors.forename: C
authors.initials: C
authors.lastname: Klein
authors.forename: K
authors.initials: K
authors.lastname: Schilling
authors.forename: R J
authors.initials: RJ
authors.lastname: Saunders-Pullman
authors.forename: J
authors.initials: J
authors.lastname: Garrels
authors.forename: X O
authors.initials: XO
authors.lastname: Breakefield
authors.forename: M F
authors.initials: MF
authors.lastname: Brin
authors.forename: D
authors.initials: D
authors.lastname: deLeon
authors.forename: D
authors.initials: D
authors.lastname: Doheny
authors.forename: S
authors.initials: S
authors.lastname: Fahn
authors.forename: J S
authors.initials: JS
authors.lastname: Fink
authors.forename: L
authors.initials: L
authors.lastname: Forsgren
authors.forename: J
authors.initials: J
authors.lastname: Friedman
authors.forename: S
authors.initials: S
authors.lastname: Frucht
authors.forename: J
authors.initials: J
authors.lastname: Harris
authors.forename: G
authors.initials: G
authors.lastname: Holmgren
authors.forename: B
authors.initials: B
authors.lastname: Kis
authors.forename: R
authors.initials: R
authors.lastname: Kurlan
authors.forename: M
authors.initials: M
authors.lastname: Kyllerman
authors.forename: A E
authors.initials: AE
authors.lastname: Lang
authors.forename: J
authors.initials: J
authors.lastname: Leung
authors.forename: D
authors.initials: D
authors.lastname: Raymond
authors.forename: J D
authors.initials: JD
authors.lastname: Robishaw
authors.forename: G
authors.initials: G
authors.lastname: Sanner
authors.forename: E
authors.initials: E
authors.lastname: Schwinger
authors.forename: R E
authors.initials: RE
authors.lastname: Tabamo
authors.forename: M
authors.initials: M
authors.lastname: Tagliati
mesh_terms: D002874:Chromosome Mapping; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics*; D004421:Dystonia / Q000235:genetics*; D005091:Exons / Q000235:genetics; D005260:Female; D008040:Genetic Linkage / Q000235:genetics*; D005819:Genetic Markers / Q000235:genetics; D006801:Humans; D008126:Lod Score; D008297:Male; D009207:Myoclonus / Q000235:genetics*; D010375:Pedigree; D017448:Receptors, Dopamine D2 / Q000235:genetics; D011995:Recombination, Genetic / Q000235:genetics; D012984:Software
chemical_list: D005819:Genetic Markers; D017448:Receptors, Dopamine D2