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.
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Received: 29 December 2000, Received in revised form: 23 March 2001, Accepted: 10 April 2001
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Major, T., Svetel, M., Romac, S. et al. DYT1 mutation in primary torsion dystonia in a Serbian population. J Neurol 248, 940–943 (2001). https://doi.org/10.1007/s004150170045
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DOI: https://doi.org/10.1007/s004150170045