We report on an Italian kindred with adult-onset primary torsion dystonia (PTD). A detailed clinical examination of the six definitely affected family members revealed a mild, purely focal phenotype. The disease involved only one body part (eyes, neck, or arm). PTD in this family was not linked to the known disease loci (DYT1, DYT6, DYT7, and DYT13), and the 3-bp deletion in the DYT1 gene was also excluded. These findings support genetic heterogeneity of PTD and indicate that a novel unassigned gene is responsible for focal dystonia in this family. (C) 2002 Movement Disorder Society.
Novel Italian family supports clinical and genetic heterogeneity of primary adult-onset torsion dystonia / Francesco, Brancati; Giovanni, Defazio; Caputo, Viviana; Enza Maria, Valente; Pizzuti, Antonio; Paolo, Livrea; Berardelli, Alfredo; Bruno, Dallapiccola. - In: MOVEMENT DISORDERS. - ISSN 0885-3185. - 17:2(2002), pp. 392-397. [10.1002/mds.10077]
Novel Italian family supports clinical and genetic heterogeneity of primary adult-onset torsion dystonia
CAPUTO, VIVIANA;PIZZUTI, Antonio;BERARDELLI, Alfredo;
2002
Abstract
We report on an Italian kindred with adult-onset primary torsion dystonia (PTD). A detailed clinical examination of the six definitely affected family members revealed a mild, purely focal phenotype. The disease involved only one body part (eyes, neck, or arm). PTD in this family was not linked to the known disease loci (DYT1, DYT6, DYT7, and DYT13), and the 3-bp deletion in the DYT1 gene was also excluded. These findings support genetic heterogeneity of PTD and indicate that a novel unassigned gene is responsible for focal dystonia in this family. (C) 2002 Movement Disorder Society.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
