A novel TITF-1 mutation causes benign hereditary chorea with response to levodopa

Neurology. 2005 Jun 14;64(11):1952-4. doi: 10.1212/01.WNL.0000164000.75046.CC.

Abstract

Presented is a pedigree with infancy-onset benign hereditary chorea (BHC) caused by a novel nonsense mutation in exon 3 (523G-->T, E175X) of the TITF-1 (Nkx2.1) gene. Four confirmed mutation carriers showed the typical movement disorder of BHC and congenital hypothyroidism. Surprisingly, treatment with levodopa improved gait dramatically and reduced chorea in two patients. Dopaminergic drugs should be considered a useful therapeutic option in BHC.

Publication types

  • Case Reports

MeSH terms

  • Child
  • Child, Preschool
  • Chorea / drug therapy*
  • Chorea / genetics*
  • Chorea / physiopathology
  • Codon, Nonsense / genetics*
  • Congenital Hypothyroidism / genetics
  • DNA Mutational Analysis
  • Dopamine Agents / administration & dosage
  • Dopamine Agents / therapeutic use
  • Exons / genetics
  • Fatal Outcome
  • Female
  • Genetic Testing
  • Humans
  • Levodopa / administration & dosage*
  • Levodopa / therapeutic use
  • Male
  • Nuclear Proteins / genetics*
  • Pedigree
  • Precursor Cell Lymphoblastic Leukemia-Lymphoma
  • Thyroid Nuclear Factor 1
  • Transcription Factors / genetics*
  • Treatment Outcome

Substances

  • Codon, Nonsense
  • Dopamine Agents
  • Nuclear Proteins
  • Thyroid Nuclear Factor 1
  • Transcription Factors
  • Levodopa