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- Title
Clinical characteristics of carriers of a GAG deletion in the DYT1 gene amongst Polish patients with primary dystonia.
- Authors
Szczaluba, K.; Jurek, M.; Milewski, M.; Friedman, A.; Kadziolka, B.; Szolna, A.; Bal, J.; Mazurczak, T.
- 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.
- Subjects
DYSTONIA; MOVEMENT disorders; EXONS (Genetics); GENETIC polymorphisms; GENETIC mutation; GENES
- Publication
European Journal of Neurology, 2007, Vol 14, Issue 6, p659
- ISSN
1351-5101
- Publication type
Article
- DOI
10.1111/j.1468-1331.2007.01811.x