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

doi:10.1002/ana.410440318

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

Neurology

Research output: Contribution to journal › Article › peer-review

24 Scopus citations

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 language	English (US)
Pages (from-to)	394-398
Number of pages	5
Journal	Annals of Neurology
Volume	44
Issue number	3
DOIs	https://doi.org/10.1002/ana.410440318
State	Published - Sep 1998

ASJC Scopus subject areas

Neurology
Clinical Neurology

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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.",

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AU - Kramer, Patricia L.

AU - Ozelius, Laurie J.

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AB - 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.

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

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