ADULT-ONSET IDIOPATHIC TORSION DYSTONIA IS EXCLUDED FROM THE DYT1 REGION (9Q34) IN A SWEDISH FAMILY

A gene (DYT1) for early onset idiopathic torsion dystonia was mapped t o chromosome 9q34 in non-Jewish and Jewish families. The DYT1 gene reg ion has been excluded in other families with adult onset and cervical or cranial onset idiopathic torsion dystonia from the United States, G reat Britain, and France. The role of DYT1 in a Swedish family with ad ult onset idiopathic torsion dystonia in four generations was examined . The disease seems to be inherited in an autosomal dominant mode with reduced penetrance in this family. There were 10 affected family memb ers, with a mean age of onset of 27 (range 18 to 50) years. The diseas e showed variable expression, with focal, multifocal, and generalised forms of dystonia in different family members. Genetic analysis exclud ed the chromosomal region containing the DYT1 locus as being responsib le for dystonia in this family.