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

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.

• Authors: F Asmus, V Horber, J Pohlenz, D Schwabe, A Zimprich, M Munz, M Schöning, T Gasser
• Journal: Neurology (Neurology) Vol. 64 Issue 11 Pg. 1952-4 (Jun 14 2005) ISSN: 1526-632X [Electronic] United States
• PMID: 15955952 (Publication Type: Case Reports, Journal Article)

Chemical References

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

Topics

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