title: A study of idiopathic torsion dystonia in a non-Jewish family: evidence for genetic heterogeneity.
abstract: A gene (DYT1) for idiopathic torsion dystonia (ITD) was mapped to chromosome 9q34 in non-Jewish and Jewish families; the dystonia in these families usually began in childhood, with the limb muscles affected first. The role of the DYT1 gene in adult-onset and cervical- or cranial-onset ITD is unknown. We examined 53 individuals from four generations of a non-Jewish North American family with adult-onset ITD. There were seven affected family members, with a mean age at onset of 28.4 years (range, 7 to 50 years). In six of the seven, the neck was affected first. All seven developed cervical dystonia, and dysarthria or dysphonia occurred in five. Linkage data excluded the region containing the DYT1 locus, indicating that DYT1 was not responsible for ITD in this family. This study provides evidence that a gene other than DYT1 is responsible for some cases of adult cervical-onset dystonia.
authors.affiliation: Department of Neurology, Columbia-Presbyterian Medical Center, New York, NY 10032.
authors.forename: S B
authors.initials: SB
authors.lastname: Bressman
authors.forename: G A
authors.initials: GA
authors.lastname: Heiman
authors.forename: T G
authors.initials: TG
authors.lastname: Nygaard
authors.forename: L J
authors.initials: LJ
authors.lastname: Ozelius
authors.forename: A L
authors.initials: AL
authors.lastname: Hunt
authors.forename: M F
authors.initials: MF
authors.lastname: Brin
authors.forename: M F
authors.initials: MF
authors.lastname: Gordon
authors.forename: C B
authors.initials: CB
authors.lastname: Moskowitz
authors.forename: D
authors.initials: D
authors.lastname: de Leon
authors.forename: R E
authors.initials: RE
authors.lastname: Burke
mesh_terms: D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D002648:Child; D002835:Christianity; D002874:Chromosome Mapping; D002899:Chromosomes, Human, Pair 9; D004422:Dystonia Musculorum Deformans / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D005190:Family; D005260:Female; D006580:Genetic Carrier Screening; D008040:Genetic Linkage; D005819:Genetic Markers; D005858:Germany / Q000208:ethnology; D006801:Humans; D007585:Jews / Q000235:genetics; D008126:Lod Score; D008297:Male; D008875:Middle Aged; D009656:North America; D010375:Pedigree
chemical_list: D005819:Genetic Markers