Clinical and genetic evaluation of a family with a mixed dystonia phenotype from South Tyrol

Christine Klein, Peter P. Pramstaller, Claudio C. Castellan, Xandra O. Breakefield, Patricia L. Kramer, Laurie J. Ozelius

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Abstract

The gene causing early-onset torsion dystonia (DYT1) has recently been identified, and two new dystonia genes, one for adult-onset focal dystonia (DYT7) and one for a mixed dystonia phenotype (DYT6), have been mapped. We evaluated clinically a family from South Tyrol (Northern Italy) with 6 definitely affected individuals who display an unusually large phenotypic range of dystonic symptoms. We excluded the GAG deletion in the DYT1 gene and linkage to any of the above-mentioned dystonia loci, thus suggesting an as yet undefined dystonia gene in our family.

Original languageEnglish (US)
Pages (from-to)394-398
Number of pages5
JournalAnnals of Neurology
Volume44
Issue number3
DOIs
StatePublished - Sep 1 1998

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ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

Cite this

Klein, C., Pramstaller, P. P., Castellan, C. C., Breakefield, X. O., Kramer, P. L., & Ozelius, L. J. (1998). Clinical and genetic evaluation of a family with a mixed dystonia phenotype from South Tyrol. Annals of Neurology, 44(3), 394-398. https://doi.org/10.1002/ana.410440318