rss
J Neurol Neurosurg Psychiatry 83:950-951 doi:10.1136/jnnp-2012-302834
  • 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
  1. 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 characterised by childhood …

Podcasts
Visit the full archive of podcasts for JNNP here >>

Free sample
This recent issue is free to all users to allow everyone the opportunity to see the full scope and typical content of JNNP.
View free sample issue >>

Don't forget to sign up for content alerts so you keep up to date with all the articles as they are published.

Navigate This Article