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Novel Italian family supports clinical and genetic heterogeneity of primary adult‐onset torsion dystonia
Author(s) -
Brancati Francesco,
Defazio Giovanni,
Caputo Viviana,
Valente Enza Maria,
Pizzuti Antonio,
Livrea Paolo,
Berardelli Alfredo,
Dallapiccola Bruno
Publication year - 2002
Publication title -
movement disorders
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.352
H-Index - 198
eISSN - 1531-8257
pISSN - 0885-3185
DOI - 10.1002/mds.10077
Subject(s) - dystonia , medicine , physical medicine and rehabilitation , age of onset , pediatrics , neuroscience , psychology , disease
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. © 2002 Movement Disorder Society.