Benign hereditary chorea related to NKX2-1 with ataxia and dystonia

Neurol Genet. 2015 Dec 22;2(1):e40. doi: 10.1212/NXG.0000000000000040. eCollection 2016 Feb.


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.