Benign hereditary chorea related to NKX2.1: expansion of the genotypic and phenotypic spectrum (pages 642–648)
Kathryn J Peall, Daniel Lumsden, Rachel Kneen, Rajesh Madhu, Deirdre Peake, Frances Gibbon, Hilary Lewis, Tammy Hedderly, Esther Meyer, Stephanie A Robb, Bryan Lynch, Mary D King, Jean-Pierre Lin, Huw R Morris, Heinz Jungbluth and Manju A Kurian
Article first published online: 31 OCT 2013 | DOI: 10.1111/dmcn.12323
What this paper adds
- This paper provides clinical and genetic characterization of a large BHC cohort.
- Nine novel NKX2.1 mutations are described.
- The clinical phenotype is expanded to include skeletal and psychiatric disorders.
- Details of the use and efficacy of medical therapies tried in these cases are given.
This article is commented on by Rice on pages 606–607 of this issue.