CLINICAL AND GENETIC EVALUATION OF A FAMILY WITH A MIXED DYSTONIA PHENOTYPE FROM SOUTH TYROL

The gene causing early-onset torsion dystonia (DYT1) has recently been identified, and two new dystonia genes, one for adult-onset focal dys tonia (DYT7) and one for a mixed dystonia phenotype (DYT6), have been mapped. We evaluated clinically a family from South Tyrol (Northern It aly) with 6 definitely affected individuals who display an unusually l arge phenotypic range of dystonic symptoms. We excluded the GAG deleti on 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 .