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^*

^*Corresponding author for this work

Institute of Neurogenetics

24 Citations (Scopus)

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
Journal	Annals of Neurology
Volume	44
Issue number	3
Pages (from-to)	394-398
Number of pages	5
ISSN	0364-5134
DOIs	https://doi.org/10.1002/ana.410440318
Publication status	Published - 01.09.1998

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title = "Clinical and genetic evaluation of a family with a mixed dystonia phenotype from South Tyrol",

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.",

author = "Christine Klein and Pramstaller, \{Peter P.\} and Castellan, \{Claudio C.\} and Breakefield, \{Xandra O.\} and Kramer, \{Patricia L.\} and Ozelius, \{Laurie J.\}",

year = "1998",

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doi = "10.1002/ana.410440318",

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T1 - Clinical and genetic evaluation of a family with a mixed dystonia phenotype from South Tyrol

AU - Klein, Christine

AU - Pramstaller, Peter P.

AU - Castellan, Claudio C.

AU - Breakefield, Xandra O.

AU - Kramer, Patricia L.

AU - Ozelius, Laurie J.

PY - 1998/9/1

Y1 - 1998/9/1

N2 - 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.

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.

UR - https://www.scopus.com/pages/publications/0031714370

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DO - 10.1002/ana.410440318

M3 - Journal articles

C2 - 9749609

AN - SCOPUS:0031714370

SN - 0364-5134

VL - 44

SP - 394

EP - 398

JO - Annals of Neurology

JF - Annals of Neurology

IS - 3

ER -

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

Abstract

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