title: Clinical characteristics of carriers of a GAG deletion in the DYT1 gene amongst Polish patients with primary dystonia.
abstract: DYT1 primary torsion dystonia is an autosomal dominant disorder caused by deletion of a GAG triplet in exon 5 of the DYT1 gene. A significant proportion of individuals with early-onset generalized dystonia is believed to be DYT1 mutation carriers. We assessed the frequency of the GAG deletion in the DYT1 gene in a group of 61 Polish probands with clinical diagnosis of primary dystonia. The deletion was identified in four probands presenting with early-onset generalized disease (7%). Further studies in probands' families revealed two symptomatic and nine asymptomatic mutation carriers. We tested all mutation-positive individuals for the presence of some common polymorphisms within the DYT1 gene. Two of the 15 mutation-positive individuals additionally carried polymorphisms in 3'-UTR of the gene. Early onset in a limb and progression toward a generalized form, but not family history of dystonia, are indicative of DYT1 dystonia in Polish dystonic individuals.
authors.affiliation: Department of Medical Genetics, National Research Institute of Mother and Child, Warsaw, Poland. kszczaluba@imid.med.pl
authors.forename: K
authors.initials: K
authors.lastname: Szczaluba
authors.forename: M
authors.initials: M
authors.lastname: Jurek
authors.forename: M
authors.initials: M
authors.lastname: Milewski
authors.forename: A
authors.initials: A
authors.lastname: Friedman
authors.forename: B
authors.initials: B
authors.lastname: Kadziolka
authors.forename: A
authors.initials: A
authors.lastname: Szolna
authors.forename: J
authors.initials: J
authors.lastname: Bal
authors.forename: T
authors.initials: T
authors.lastname: Mazurczak
mesh_terms: D000293:Adolescent; D000328:Adult; D004252:DNA Mutational Analysis; D020821:Dystonic Disorders / Q000235:genetics*; D005260:Female; D017353:Gene Deletion; D006801:Humans; D008297:Male; D008875:Middle Aged; D018832:Molecular Chaperones / Q000235:genetics*; D011044:Poland / Q000453:epidemiology
chemical_list: D018832:Molecular Chaperones; C108175:TOR1A protein, human