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Article

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

14 Jun 2005

Abstract excerpt

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...

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PMID: 15955952
DOI: 10.1212/01.wnl.0000164000.75046.cc

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