title: Benign hereditary chorea: clinical, genetic, and pathological findings.
abstract: Benign hereditary chorea is an autosomal dominant disorder presenting with childhood-onset chorea, no dementia, and little or no progression. We present a family with typical clinical features of benign hereditary chorea. Pathological investigation of the brain of an affected family member who died of an unrelated condition showed no significant gross or histological abnormalities. Genetic evaluation showed a novel single nucleotide substitution of intron 2 of the TITF-1 gene (also referred to as TTF, NKX2.1, and T/ebp) on chromosome 14 which is predicted to have drastic consequences on the maturation processes of TITF-1.
authors.affiliation: Division of Neurology, Toronto Western Hospital, Ontario, Canada.
authors.forename: Galit
authors.initials: G
authors.lastname: Kleiner-Fisman
authors.forename: Ekaterina
authors.initials: E
authors.lastname: Rogaeva
authors.forename: William
authors.initials: W
authors.lastname: Halliday
authors.forename: Sylvain
authors.initials: S
authors.lastname: Houle
authors.forename: Toshitaka
authors.initials: T
authors.lastname: Kawarai
authors.forename: Christine
authors.initials: C
authors.lastname: Sato
authors.forename: Helena
authors.initials: H
authors.lastname: Medeiros
authors.forename: Peter H
authors.initials: PH
authors.lastname: St  George-Hyslop
authors.forename: Anthony E
authors.initials: AE
authors.lastname: Lang
mesh_terms: D019943:Amino Acid Substitution; D001921:Brain / Q000000981:diagnostic imaging / Q000473:pathology; D002819:Chorea / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology*; D002883:Chromosomes, Human, Pair 14 / Q000235:genetics; D004247:DNA / Q000235:genetics; D005260:Female; D006801:Humans; D007438:Introns / Q000235:genetics; D008875:Middle Aged; D014055:Tomography, Emission-Computed
chemical_list: D004247:DNA