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NEUROLOGY 2005;64:1952-1954
© 2005 American Academy of Neurology
Brief Communications

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

F. Asmus, MD, V. Horber, MD, J. Pohlenz, MD, D. Schwabe, MD, A. Zimprich, MD, M. Munz, M. Schöning, MD and T. Gasser, MD

From the Department of Neurodegenerative Diseases (Drs. Asmus, Zimprich, Munz, and Gasser), Hertie Institute for Clinical Brain Research, and Department of Paediatric Neurology and Child Development (Drs. Horber and Schöning), Children’s Hospital, Eberhard Karls University, Tuebingen, Children’s Hospital (Dr. Pohlenz), Johannes Gutenberg University, Mainz, and Department of Paediatric Hematology and Oncology (Dr. Schwabe), Johann Wolfgang Goethe University Hospital, Frankfurt am Main, Germany; and Department of Neurology (Dr. Zimprich), University Hospital, Vienna, Austria.

Address correspondence and reprint requests to Dr. F. Asmus, Dystonia Genetics Unit, Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, Otfried-Muller-Str. 27, D-72076 Tuebingen, Germany; e-mail: friedrich.asmus{at}uni-tuebingen.de

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.

Additional material related to this article can be found on the Neurology Web site. Go to www.neurology.org and scroll down the Table of Contents for the June 14 issue to find the title link for this article.

Received October 29, 2004. Accepted in final form February 26, 2005.




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