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Editorial commentary
Behavioural and cognitive dysfunction across basal ganglia disorders
  1. Andrea Eugenio Cavanna1,2
  1. 1Department of Neuropsychiatry, University of Birmingham and BSMHFT, Birmingham, UK
  2. 2Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, UCL, London, UK
  1. 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

https://doi.org/10.1136/jnnp-2012-302834

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    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 characterised by childhood …

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    Footnotes

    • Linked article 302505.

    • Competing interests None.

    • Provenance and peer review Commissioned; internally peer reviewed.

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