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Clinical and genetic evaluation of a family with a mixed dystonia phenotype from south tyrol
Author(s) -
Klein Christine,
Pramstaller Peter P.,
Castellan Claudio C.,
Breakefield Xandra O.,
Kramer Patricia L.,
Ozelius Laurie J.
Publication year - 1998
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.410440318
Subject(s) - dystonia , phenotype , medicine , genetics , genetic linkage , gene , biology , psychiatry
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.