title: Benign hereditary chorea related to NKX2-1 with ataxia and dystonia.
abstract: Benign hereditary chorea (BHC) was originally described in 1967, but it was not until 2002 that linkage analysis and positional cloning identified the causative gene, NKX2-1 (also known as TTF-1).(1,2) The range of manifestations spans from isolated chorea, pulmonary disease, or thyroid dysfunction, with one-third of patients having the full brain-lung-thyroid syndrome.(3) Recent reports have expanded the NKX2-1 phenotype, as patients may present with additional movement disorders such as dystonia and myoclonus.(3) We present a case with early-onset chorea, ataxia, and dystonia.
authors.affiliation: Department of Neurology (C.M.d.G., J.L.W.), Massachusetts General Hospital, Boston, MA; Mendelics Genomic Analysis (F.K.), Sao Paulo, Brazil; Child Neurology Unit (E.B.C.), Children's Institute, Hospital das Clinicas, University of Sao Paulo, Sao Paulo, Brazil; and Department of Neurology (J.L.W.), Boston Children's Hospital, Boston, MA.
authors.forename: Claudio M
authors.initials: CM
authors.lastname: de Gusmao
authors.affiliation: Department of Neurology (C.M.d.G., J.L.W.), Massachusetts General Hospital, Boston, MA; Mendelics Genomic Analysis (F.K.), Sao Paulo, Brazil; Child Neurology Unit (E.B.C.), Children's Institute, Hospital das Clinicas, University of Sao Paulo, Sao Paulo, Brazil; and Department of Neurology (J.L.W.), Boston Children's Hospital, Boston, MA.
authors.forename: Fernando
authors.initials: F
authors.lastname: Kok
authors.affiliation: Department of Neurology (C.M.d.G., J.L.W.), Massachusetts General Hospital, Boston, MA; Mendelics Genomic Analysis (F.K.), Sao Paulo, Brazil; Child Neurology Unit (E.B.C.), Children's Institute, Hospital das Clinicas, University of Sao Paulo, Sao Paulo, Brazil; and Department of Neurology (J.L.W.), Boston Children's Hospital, Boston, MA.
authors.forename: Erasmo Barbante
authors.initials: EB
authors.lastname: Casella
authors.affiliation: Department of Neurology (C.M.d.G., J.L.W.), Massachusetts General Hospital, Boston, MA; Mendelics Genomic Analysis (F.K.), Sao Paulo, Brazil; Child Neurology Unit (E.B.C.), Children's Institute, Hospital das Clinicas, University of Sao Paulo, Sao Paulo, Brazil; and Department of Neurology (J.L.W.), Boston Children's Hospital, Boston, MA.
authors.forename: Jeff L
authors.initials: JL
authors.lastname: Waugh