title: Identification of a novel primary torsion dystonia locus (DYT13) on chromosome 1p36 in an Italian family with cranial-cervical or upper limb onset.
abstract: Primary torsion dystonia (PTD) is a clinically and genetically heterogeneous group of movement disorders, usually inherited in an autosomal dominant fashion. Three PTD loci (DYT1, DYT6 and DYT7) have been identified to date. However, in several PTD families linkage to the known loci has been excluded. We identified an Italian PTD family with 11 definitely affected members. Phenotype was characterised by juvenile or early-adult onset, prominent cranial-cervical and upper limb involvement, mild course and occasional generalisation. A genome-wide search performed in the family identified a novel PTD locus (DYT13) within a 22-cM interval on the short arm of chromosome 1, with a maximum lod score of 3.44 (theta = 0) between the disease and marker D1S2667.
authors.affiliation: Institute of Neurology, London, UK.
authors.forename: E M
authors.initials: EM
authors.lastname: Valente
authors.forename: A R
authors.initials: AR
authors.lastname: Bentivoglio
authors.forename: E
authors.initials: E
authors.lastname: Cassetta
authors.forename: P H
authors.initials: PH
authors.lastname: Dixon
authors.forename: M B
authors.initials: MB
authors.lastname: Davis
authors.forename: A
authors.initials: A
authors.lastname: Ferraris
authors.forename: T
authors.initials: T
authors.lastname: Ialongo
authors.forename: M
authors.initials: M
authors.lastname: Frontali
authors.forename: N W
authors.initials: NW
authors.lastname: Wood
authors.forename: A
authors.initials: A
authors.lastname: Albanese
mesh_terms: D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D001132:Arm / Q000294:innervation / Q000503:physiopathology; D002648:Child; D002675:Child, Preschool; D002874:Chromosome Mapping; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics*; D004252:DNA Mutational Analysis; D004422:Dystonia Musculorum Deformans / Q000235:genetics*; D005260:Female; D005838:Genotype; D006801:Humans; D007558:Italy; D008297:Male; D009333:Neck / Q000294:innervation / Q000503:physiopathology; D010641:Phenotype; D017354:Point Mutation / Q000235:genetics*