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.

SUBMITTER: de Gusmao CM 

PROVIDER: S-EPMC4817908 | biostudies-other | 2016 Feb

REPOSITORIES: biostudies-other