• Neurology · Jun 2005

    Case Reports

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

    • F Asmus, V Horber, J Pohlenz, D Schwabe, A Zimprich, M Munz, M Schöning, and T Gasser.
    • Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, Tuebingen, Germany. friedrich.asmus@uni-tuebingen.de
    • Neurology. 2005 Jun 14; 64 (11): 1952-4.

    AbstractPresented 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.

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