Intrafamilial phenotypic and genetic heterogeneity of dystonia

Vladimir S. Kostić*, Marina Svetel, Kemal Kabakci, Aleksandar Ristić, Igor Petrović, Birgitt Schüle, Norman Kock, Ana Djarmati, Stanka Romac, Christine Klein

*Corresponding author for this work
12 Citations (Scopus)


Most cases of early-onset primary torsion dystonia are caused by the same 3-bp (GAG) deletion in the DYT1 gene. We describe a large Serbian family with significant intrafamilial variability of the DYT1 phenotype, from asymptomatic carrier status to late-onset focal, and generalized jerky dystonia. Seven mutation carriers (six proven by direct analysis and one by inferred haplotype) were identified, but only two of them were affected by dystonia (penetrance reduced to 29%). In addition, three GAG-deletion-negative family members also developed dystonia (two multifocal dystonia and one torticollis), suggesting that their involuntary movements are due to some other etiological factor(s) (i.e., another dystonia gene), or may be psychogenic.

Original languageEnglish
JournalJournal of the Neurological Sciences
Issue number1-2
Pages (from-to)92-96
Number of pages5
Publication statusPublished - 01.12.2006


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