Familial adolescent-onset scoliosis and later segmental dystonia in an Irish family

J Neurol. 2004 Jul;251(7):845-8. doi: 10.1007/s00415-004-0444-x.

Abstract

Adolescent-onset scoliosis occurs more frequently than expected in primary adult-onset cervical dystonia and a genetic association between the conditions has been postulated. The authors report a family in which four members have adult-onset cervical and/or brachial dystonia, two of whom have coexistent scoliosis. Four other individuals have isolated childhood- or adolescent-onset scoliosis. Adolescent-onset scoliosis may represent part of the dystonia phenotype in this family.

MeSH terms

  • Adolescent
  • Adult
  • Age of Onset
  • Aged
  • Aged, 80 and over
  • Arm / physiopathology
  • DNA Mutational Analysis
  • Dystonic Disorders / complications*
  • Dystonic Disorders / genetics*
  • Dystonic Disorders / physiopathology
  • Family Health
  • Female
  • Genetic Testing
  • Humans
  • Ireland
  • Male
  • Middle Aged
  • Molecular Chaperones / genetics
  • Molecular Chaperones / metabolism
  • Mutation / genetics
  • Pedigree
  • Scoliosis / complications*
  • Scoliosis / genetics*
  • Scoliosis / physiopathology
  • Torticollis / complications*
  • Torticollis / genetics*
  • Torticollis / physiopathology
  • Tremor / genetics
  • Tremor / physiopathology

Substances

  • Molecular Chaperones
  • TOR1A protein, human