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Benign hereditary chorea: an update

Peall, Kathryn ORCID: and Kurian, Manju 2015. Benign hereditary chorea: an update. Tremor and Other Hyperkinet Movements 2015 , 3. 10.7916/D8RJ4HM5

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

Item Type: Article
Date Type: Publication
Status: Published
Schools: Medicine
Subjects: R Medicine > RC Internal medicine > RC0321 Neuroscience. Biological psychiatry. Neuropsychiatry
Publisher: Columbia University
ISSN: 2160-8288
Date of First Compliant Deposit: 6 April 2016
Date of Acceptance: 8 June 2015
Last Modified: 06 Nov 2023 21:36

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