title: Primary torsion dystonia: the search for genes is not over.
abstract: A GAG deletion in the DYT1 gene accounts for most early, limb onset primary torsion dystonia (PTD). The genetic bases for the more common adult onset and focal PTD are less well delineated. Genetic loci for an "intermediate dystonia" phenotype and for torticollis, named DYT6 and DYT7 respectively, have recently been mapped in single families. To evaluate the contribution of these genetic loci to other families with familial "non-DYT1" dystonia five large families with dystonia were studied using genetic markers spanning the DYT6 and DYT7 regions. There was no evidence of linkage to either locus in any family. These findings illustrate the genetic heterogeneity of the dystonias and indicate the existence of one or more as yet unmapped genes for dystonia. Large collaborative efforts will be required to identify these, and additional genes, causing PTD.
authors.affiliation: Department of Clinical Neurology, Institute of Neurology, London, UK.
authors.forename: P R
authors.initials: PR
authors.lastname: Jarman
authors.forename: N
authors.initials: N
authors.lastname: del Grosso
authors.forename: E M
authors.initials: EM
authors.lastname: Valente
authors.forename: B
authors.initials: B
authors.lastname: Leube
authors.forename: E
authors.initials: E
authors.lastname: Cassetta
authors.forename: A R
authors.initials: AR
authors.lastname: Bentivoglio
authors.forename: H M
authors.initials: HM
authors.lastname: Waddy
authors.forename: R J
authors.initials: RJ
authors.lastname: Uitti
authors.forename: D M
authors.initials: DM
authors.lastname: Maraganore
authors.forename: A
authors.initials: A
authors.lastname: Albanese
authors.forename: M
authors.initials: M
authors.lastname: Frontali
authors.forename: G
authors.initials: G
authors.lastname: Auburger
authors.forename: S B
authors.initials: SB
authors.lastname: Bressman
authors.forename: N W
authors.initials: NW
authors.lastname: Wood
authors.forename: T G
authors.initials: TG
authors.lastname: Nygaard
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D002675:Child, Preschool; D002874:Chromosome Mapping; D002887:Chromosomes, Human, Pair 18 / Q000235:genetics*; D002898:Chromosomes, Human, Pair 8 / Q000235:genetics*; D004422:Dystonia Musculorum Deformans / Q000235:genetics*; D008040:Genetic Linkage / Q000235:genetics; D005819:Genetic Markers; D006801:Humans; D007223:Infant; D008875:Middle Aged
chemical_list: D005819:Genetic Markers