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

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

Claudio M de Gusmao  1 , Fernando Kok  1 , Erasmo Barbante Casella  1 , Jeff L Waugh  1
Affiliations

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

Claudio M de Gusmao et al. Neurol Genet. .

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.

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