DYT13, a novel primary torsion dystonia locus, maps to chromosome 1p36.13–36.32 in an Italian family with cranial‐cervical or upper limb onset

• DOI: 10.1002/ana.73
• Publication Date: 2004-11-14T11:50:09Z
• Authors: Enza Maria Valente; Anna Rita Bentivo...; Emanuele Cassetta; Peter H. Dixon; Mary B. Davis; Alessandro Ferraris; Tamara Ialongo; Marina Frontali; Nicholas W. Wood; Alberto Albanese
• Keywords: Penetrance; Genetic linkage

Abstract Primary torsion dystonia (PTD) is a clinically and genetically heterogeneous group of movement disorders, usually inherited in an autosomal dominant fashion with reduced penetrance. The DYT1 gene on chromosome 9q34 responsible for most cases early limb‐onset PTD. Two other PTD loci have been mapped to date. DYT6 locus 8 associated mixed phenotype, whereas the DYT7 18p adult onset focal cervical dystonia. Several families described which linkage known excluded. We identified large Italian family 11 definitely affected members. Phenotype was characterized by prominent cranial‐cervical upper limb involvement mild severity. A genome‐wide search performed family. Linkage analysis haplotype construction allowed us identify novel (DYT13) within 22 cM interval short arm 1, maximum lod score 3.44 between disease marker D1S2667. Ann Neurol 2001;49:362–366