Behavioural and cognitive dysfunction across basal ganglia disorders
- 1Department of Neuropsychiatry, University of Birmingham and BSMHFT, Birmingham, UK
- 2Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, UCL, London, UK
- Correspondence to Dr Andrea Eugenio Cavanna, Consultant in Behavioural Neurology, Department of Neuropsychiatry, The Barberry National Centre for Mental Health, 25 Vincent Drive, Birmingham B15 2FG, UK; andrea.cavanna{at}bsmhft.nhs.uk
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Contributors AEC contributed to the conception and design, drafting the article and final approval of the version to be published.
- Received 7 April 2012
- Accepted 11 April 2012
- Published Online First 13 June 2012
Gras and colleagues present the results of an interesting and accurate study on the clinical phenomenology and long-term prognosis of a large series of 28 patients with genetically confirmed benign hereditary chorea (BHC).1 BHC is a rare genetic condition with an autosomal dominant pattern of inheritance. The defects have been identified in mutations affecting the TIFT1 gene (now named NKX2-1), which encodes the thyroid transcription factor 1, while the clinical phenotype has traditionally been defined by the triad of chorea, hypothyroidism and lung disease (‘brain-thyroid-lung syndrome’). Specifically, the clinical picture of BHC has long been thought to be …
