Exclusion of the DYT1 locus in familial torticollis

Ann Neurol. 1996 Oct;40(4):681-4. doi: 10.1002/ana.410400421.

Abstract

Clinical-genetic studies of idiopathic torsion dystonia (ITD) indicate that the DYT1 gene on chromosome 9q34 is responsible for most childhood limb-onset disease. The genetic basis of adult-onset ITD is less well studied. In most multiplex adult-onset ITD families, dystonia is limited to the cervical, cranial, or brachial muscles; in a few rare families, dystonia also involves the legs and trunk. Previous linkage studies have excluded the DYT1 locus in these atypical families. We studied two large non-Jewish families with adult-onset ITD limited to the cervical and brachial muscles and excluded the DYT1-containing region. This study further restricts the role of DYT1 to childhood limb-onset ITD and suggests that other genes are responsible for focal adult-onset ITD.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adolescent
  • Adult
  • Age of Onset
  • Chromosomes, Human, Pair 9
  • Dystonia Musculorum Deformans / genetics*
  • Dystonia Musculorum Deformans / physiopathology
  • Female
  • Genetic Linkage
  • Humans
  • Male
  • Middle Aged
  • Muscle, Skeletal / physiopathology
  • Pedigree
  • Polymorphism, Genetic
  • Torticollis / genetics*