title: Novel Italian family supports clinical and genetic heterogeneity of primary adult-onset torsion dystonia.
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.
authors.affiliation: Istituto C.S.S. Mendel, Rome, Italy.
authors.forename: Francesco
authors.initials: F
authors.lastname: Brancati
authors.forename: Giovanni
authors.initials: G
authors.lastname: Defazio
authors.forename: Viviana
authors.initials: V
authors.lastname: Caputo
authors.forename: Enza Maria
authors.initials: EM
authors.lastname: Valente
authors.forename: Antonio
authors.initials: A
authors.lastname: Pizzuti
authors.forename: Paolo
authors.initials: P
authors.lastname: Livrea
authors.forename: Alfredo
authors.initials: A
authors.lastname: Berardelli
authors.forename: Bruno
authors.initials: B
authors.lastname: Dallapiccola
mesh_terms: D000328:Adult; D000368:Aged; D002869:Chromosome Aberrations; D002874:Chromosome Mapping; D004422:Dystonia Musculorum Deformans / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant; D018740:Genetic Heterogeneity; D005819:Genetic Markers / Q000235:genetics; D006801:Humans; D008126:Lod Score; D008297:Male; D008875:Middle Aged; D009460:Neurologic Examination; D010375:Pedigree; D010641:Phenotype; D014103:Torticollis / Q000175:diagnosis / Q000235:genetics
chemical_list: D005819:Genetic Markers