title: GAG deletion in the DYT1 gene in early limb-onset idiopathic torsion dystonia in Germany.
abstract: We examined 57 patients with idiopathic torsion dystonia (ITD) for the 3-bp GAG deletion in the DYT1 gene on human chromosome 9q34. Three of five patients with early limb-onset ITD, one of them with a positive family history, tested positive for the mutation, as did one young patient with multifocal dystonia and a short course of the disease. Two patients with early-onset generalized dystonia beginning in the cervical muscles, as well as five other patients with multifocal, 14 patients with segmental, and 30 patients with focal cervical dystonia did not carry the mutation. This suggests that the GAG deletion is responsible for a major portion of cases of typical early limb-onset dystonia, but not for other types of dystonia, in our population.
authors.affiliation: Department of Neurology, Klinikum Grosshadern, Ludwig-Maximilians-Universität, München, Germany.
authors.forename: C
authors.initials: C
authors.lastname: Kamm
authors.forename: E
authors.initials: E
authors.lastname: Castelon-Konkiewitz
authors.forename: M
authors.initials: M
authors.lastname: Naumann
authors.forename: F
authors.initials: F
authors.lastname: Heinen
authors.forename: M
authors.initials: M
authors.lastname: Brack
authors.forename: A
authors.initials: A
authors.lastname: Nebe
authors.forename: A
authors.initials: A
authors.lastname: Ceballos-Baumann
authors.forename: T
authors.initials: T
authors.lastname: Gasser
mesh_terms: D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D000368:Aged; D002352:Carrier Proteins / Q000235:genetics*; D002648:Child; D002899:Chromosomes, Human, Pair 9; D018450:Disease Progression; D004421:Dystonia / Q000145:classification / Q000235:genetics*; D005121:Extremities; D005192:Family Health; D005260:Female; D017353:Gene Deletion; D005819:Genetic Markers; D005858:Germany; D006239:Haplotypes; D006801:Humans; D008297:Male; D008875:Middle Aged; D018832:Molecular Chaperones; D012150:Polymorphism, Restriction Fragment Length
chemical_list: D002352:Carrier Proteins; D005819:Genetic Markers; D018832:Molecular Chaperones; C108175:TOR1A protein, human