Benign hereditary chorea: clinical, genetic, and pathological findings

Ann Neurol. 2003 Aug;54(2):244-7. doi: 10.1002/ana.10637.


Benign hereditary chorea is an autosomal dominant disorder presenting with childhood-onset chorea, no dementia, and little or no progression. We present a family with typical clinical features of benign hereditary chorea. Pathological investigation of the brain of an affected family member who died of an unrelated condition showed no significant gross or histological abnormalities. Genetic evaluation showed a novel single nucleotide substitution of intron 2 of the TITF-1 gene (also referred to as TTF, NKX2.1, and T/ebp) on chromosome 14 which is predicted to have drastic consequences on the maturation processes of TITF-1.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Substitution
  • Brain / diagnostic imaging
  • Brain / pathology
  • Chorea / diagnostic imaging
  • Chorea / genetics*
  • Chorea / pathology*
  • Chromosomes, Human, Pair 14 / genetics
  • DNA / genetics
  • Female
  • Humans
  • Introns / genetics
  • Middle Aged
  • Tomography, Emission-Computed


  • DNA