title: Idiopathic torsion dystonia linked to chromosome 8 in two Mennonite families.
abstract: The DYT1 locus on chromosome 9q34 is responsible for most childhood limb-onset idiopathic torsion dystonia (ITD). Linkage to DYT1 has been excluded in families with adult-onset, and predominantly cranial-cervical, ITD. We mapped a locus (DYT6) associated with prominent cranial-cervical ITD in two large Mennonite families to chromosome 8. An identical haplotype spanning 40-cM segregates with ITD in these families, suggesting a shared mutation from the recent past.
authors.affiliation: Department of Genetics, Southwest Foundation for Biomedical Research, San Antonio, TX, USA.
authors.forename: L
authors.initials: L
authors.lastname: Almasy
authors.forename: S B
authors.initials: SB
authors.lastname: Bressman
authors.forename: D
authors.initials: D
authors.lastname: Raymond
authors.forename: P L
authors.initials: PL
authors.lastname: Kramer
authors.forename: P E
authors.initials: PE
authors.lastname: Greene
authors.forename: G A
authors.initials: GA
authors.lastname: Heiman
authors.forename: B
authors.initials: B
authors.lastname: Ford
authors.forename: J
authors.initials: J
authors.lastname: Yount
authors.forename: D
authors.initials: D
authors.lastname: de Leon
authors.forename: S
authors.initials: S
authors.lastname: Chouinard
authors.forename: R
authors.initials: R
authors.lastname: Saunders-Pullman
authors.forename: M F
authors.initials: MF
authors.lastname: Brin
authors.forename: R P
authors.initials: RP
authors.lastname: Kapoor
authors.forename: A C
authors.initials: AC
authors.lastname: Jones
authors.forename: H
authors.initials: H
authors.lastname: Shen
authors.forename: S
authors.initials: S
authors.lastname: Fahn
authors.forename: N J
authors.initials: NJ
authors.lastname: Risch
authors.forename: T G
authors.initials: TG
authors.lastname: Nygaard
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D002835:Christianity; D002898:Chromosomes, Human, Pair 8; D004422:Dystonia Musculorum Deformans / Q000208:ethnology* / Q000209:etiology / Q000235:genetics*; D005006:Ethnicity / Q000235:genetics; D005260:Female; D005819:Genetic Markers; D006239:Haplotypes; D006801:Humans; D008297:Male; D010375:Pedigree; D011995:Recombination, Genetic
chemical_list: D005819:Genetic Markers