title: DYT1 mutation in primary torsion dystonia in a Serbian population.
abstract: Primary torsion dystonia (PTD) is a clinically and genetically heterogeneous movement disorder. A GAG deletion at position 946 in the DYT1 gene is responsible for most cases of autosomal dominant early-onset PTD. We analysed the DYT1 mutation in 50 patients from a Serbian population, selected according to the proposed guidelines for diagnostic testing: (a) 38 patients with PTD onset < 26 years, and (b) 12 patients with the disease onset +/- 26 years, but with at least one affected family member with early-onset dystonia. Only three apparently sporadic patients among the 50 individuals tested were positive for the GAG deletion in the DYT1 gene: one with typical, generalized, one with long-lasting, non-progressive segmental, and one with multifocal dystonia. Molecular analysis of relatives in 2 families revealed that the lack of family history was due to reduced penetrance.
authors.affiliation: PCR Center, Faculty of Biology, University of Belgrade, Yugoslavia.
authors.forename: T
authors.initials: T
authors.lastname: Major
authors.forename: M
authors.initials: M
authors.lastname: Svetel
authors.forename: S
authors.initials: S
authors.lastname: Romac
authors.forename: V S
authors.initials: VS
authors.lastname: Kostić
mesh_terms: D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D002352:Carrier Proteins / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D017931:DNA Primers; D004422:Dystonia Musculorum Deformans / Q000235:genetics*; D005260:Female; D005820:Genetic Testing; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D018832:Molecular Chaperones; D010375:Pedigree; D016133:Polymerase Chain Reaction; D017384:Sequence Deletion; D015022:Yugoslavia
chemical_list: D002352:Carrier Proteins; D017931:DNA Primers; D018832:Molecular Chaperones; C108175:TOR1A protein, human