A novel TITF-1 mutation causes benign hereditary chorea with response to levodopa.
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.
Asmus
F
F
Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, Tuebingen, Germany. friedrich.asmus@uni-tuebingen.de
Horber
V
V
Pohlenz
J
J
Schwabe
D
D
Zimprich
A
A
Munz
M
M
Schöning
M
M
Gasser
T
T
D002648:Child; D002675:Child, Preschool; D002819:Chorea / Q000188:drug therapy* / Q000235:genetics* / Q000503:physiopathology; D018389:Codon, Nonsense / Q000235:genetics*; D003409:Congenital Hypothyroidism / Q000235:genetics; D004252:DNA Mutational Analysis; D015259:Dopamine Agents / Q000008:administration & dosage / Q000627:therapeutic use; D005091:Exons / Q000235:genetics; D017809:Fatal Outcome; D005260:Female; D005820:Genetic Testing; D006801:Humans; D007980:Levodopa / Q000008:administration & dosage* / Q000627:therapeutic use; D008297:Male; D009687:Nuclear Proteins / Q000235:genetics*; D010375:Pedigree; D054198:Precursor Cell Lymphoblastic Leukemia-Lymphoma; D000074482:Thyroid Nuclear Factor 1; D014157:Transcription Factors / Q000235:genetics*; D016896:Treatment Outcome
D018389:Codon, Nonsense; D015259:Dopamine Agents; D009687:Nuclear Proteins; D000074482:Thyroid Nuclear Factor 1; D014157:Transcription Factors; D007980:Levodopa