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Updated: Mar 22, 2026
Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
Benign hereditary chorea related to NKX2-1 with ataxia and dystonia
Claudio M de Gusmao1, Fernando Kok1, Erasmo Barbante Casella1
1Department 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.
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.
