title: Exclusion of the DYT1 locus in familial torticollis.
abstract: Clinical-genetic studies of idiopathic torsion dystonia (ITD) indicate that the DYT1 gene on chromosome 9q34 is responsible for most childhood limb-onset disease. The genetic basis of adult-onset ITD is less well studied. In most multiplex adult-onset ITD families, dystonia is limited to the cervical, cranial, or brachial muscles; in a few rare families, dystonia also involves the legs and trunk. Previous linkage studies have excluded the DYT1 locus in these atypical families. We studied two large non-Jewish families with adult-onset ITD limited to the cervical and brachial muscles and excluded the DYT1-containing region. This study further restricts the role of DYT1 to childhood limb-onset ITD and suggests that other genes are responsible for focal adult-onset ITD.
authors.affiliation: Department of Neurology, Columbia-Presbyterian Medical Center, New York, NY, USA.
authors.forename: S B
authors.initials: SB
authors.lastname: Bressman
authors.forename: T T
authors.initials: TT
authors.lastname: Warner
authors.forename: L
authors.initials: L
authors.lastname: Almasy
authors.forename: R J
authors.initials: RJ
authors.lastname: Uitti
authors.forename: P E
authors.initials: PE
authors.lastname: Greene
authors.forename: G A
authors.initials: GA
authors.lastname: Heiman
authors.forename: D
authors.initials: D
authors.lastname: Raymond
authors.forename: B
authors.initials: B
authors.lastname: Ford
authors.forename: D
authors.initials: D
authors.lastname: de Leon
authors.forename: S
authors.initials: S
authors.lastname: Fahn
authors.forename: P L
authors.initials: PL
authors.lastname: Kramer
authors.forename: N J
authors.initials: NJ
authors.lastname: Risch
authors.forename: D M
authors.initials: DM
authors.lastname: Maraganore
authors.forename: T G
authors.initials: TG
authors.lastname: Nygaard
authors.forename: A E
authors.initials: AE
authors.lastname: Harding
mesh_terms: D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D002899:Chromosomes, Human, Pair 9; D004422:Dystonia Musculorum Deformans / Q000235:genetics* / Q000503:physiopathology; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D008875:Middle Aged; D018482:Muscle, Skeletal / Q000503:physiopathology; D010375:Pedigree; D011110:Polymorphism, Genetic; D014103:Torticollis / Q000235:genetics*