Benign Hereditary Chorea: An Update

• DOI: 10.5334/tohm.269
• Publication Date: 2020-06-24T11:19:36Z
• Authors: Kathryn J. Peall; Manju A. Kurian
• Keywords: Choreiform movement; Movement Disorders

Benign hereditary chorea (BHC) is a childhood-onset, hyperkinetic movement disorder normally with little progression of motor symptoms into adult life. The caused by mutations to the <em>NKX2.1</em> (<em>TITF1</em>) gene and also forms part ''brain–lung–thyroid syndrome'', in which additional developmental abnormalities lung thyroid tissue are observed. In this review, we summarize main clinical findings ''classical'' BHC syndrome discuss more recently reported atypical features, including non-choreiform phenotypes. We highlight non-motor characteristics such as cognitive impairment psychiatric symptoms, while discussing evidence for involving impaired neural migration other multisystem abnormalities. Finally, will efficacy available therapies both affected pediatric cohorts. Delineation disease spectrum no doubt expand our understanding disorder, facilitating better targeting genetic testing establish framework future trials.