title: A novel nonsense mutation in the TITF-1 gene in a Japanese family with benign hereditary chorea.
abstract: A Japanese family with a novel nonsense mutation in the TITF-1 gene (p.Y98X) is described. The proband showed severe generalized chorea, delayed motor development, subnormal intelligence, congenital hypothyroidism, bronchial asthma, and a history of pulmonary infection, all of which are characteristic features of Brain-Thyroid-Lung syndrome. On the other hand, her brother and mother showed a mild benign hereditary chorea (BHC) phenotype with congenital hypothyroidism. Intrafamilial phenotypic variation is common in BHC/Brain-Thyroid-Lung syndrome and suggests the existence of other genetic or environmental factors regulating TITF-1 function. Although choreic movement in BHC/Brain-Thyroid-Lung syndrome is recognized as non-progressive, the proband showed re-exacerbation of choreic movement at puberty. The dopamine agonist, ropinirole hydrochloride, reduced her choreic movements, suggesting that levodopa and/or dopamine agonists may compensate for underdeveloped dopaminergic pathways in this disorder.
authors: Department of Medicine (Neurology and Rheumatology), Shinshu University School of Medicine, Japan.
authors: Katsuya
authors: K
authors: Nakamura
authors: Yoshiki
authors: Y
authors: Sekijima
authors: Kiyoshiro
authors: K
authors: Nagamatsu
authors: Kunihiro
authors: K
authors: Yoshida
authors: Shu-ichi
authors: S
authors: Ikeda
mesh_terms: D044466:Asian People / Q000235:genetics*; D002819:Chorea / Q000175:diagnosis / Q000235:genetics*; D018389:Codon, Nonsense / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009687:Nuclear Proteins / Q000235:genetics*; D010375:Pedigree; D000074482:Thyroid Nuclear Factor 1; D014157:Transcription Factors / Q000235:genetics*; D055815:Young Adult
chemical_list: D018389:Codon, Nonsense; D009687:Nuclear Proteins; D000074482:Thyroid Nuclear Factor 1; D014157:Transcription Factors