title: Familial blepharospasm is inherited as an autosomal dominant trait and relates to a novel unassigned gene.
abstract: Blepharospasm (BSP) is a common form of primary torsion dystonia (PTD). Although most cases are sporadic, an increased familial incidence of BSP has been reported. Precisely how blepharospasm is inherited remains unclear. We report on two Italian families with adult-onset focal BSP inherited as an autosomal dominant trait with reduced penetrance. None of the affected family members had the 3-bp (GAG) or the 18-bp deletion in the DYT1 gene. In one family, linkage analysis allowed us to exclude segregation of the disease with the known PTD loci (DYT1, DYT6, DYT7, and DYT13). These findings suggest that primary familial adult-onset BSP is a distinct entity among inherited PTD and is caused by a novel, unmapped gene.
authors.affiliation: Department of Neurological and Psychiatric Sciences, University of Bari, Bari, Italy. gdefazio@neurol.uniba.it
authors.forename: Giovanni
authors.initials: G
authors.lastname: Defazio
authors.forename: Francesco
authors.initials: F
authors.lastname: Brancati
authors.forename: Enza Maria
authors.initials: EM
authors.lastname: Valente
authors.forename: Viviana
authors.initials: V
authors.lastname: Caputo
authors.forename: Antonio
authors.initials: A
authors.lastname: Pizzuti
authors.forename: Davide
authors.initials: D
authors.lastname: Martino
authors.forename: Giovanni
authors.initials: G
authors.lastname: Abbruzzese
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: D000293:Adolescent; D000328:Adult; D000368:Aged; D001764:Blepharospasm / Q000235:genetics*; D017931:DNA Primers / Q000235:genetics; D004422:Dystonia Musculorum Deformans / Q000235:genetics*; D005260:Female; D015870:Gene Expression / Q000235:genetics*; D008040:Genetic Linkage; D005819:Genetic Markers; D006801:Humans; D008297:Male; D008875:Middle Aged; D008967:Molecular Biology / Q000379:methods; D010375:Pedigree; D016133:Polymerase Chain Reaction
chemical_list: D017931:DNA Primers; D005819:Genetic Markers