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Publication Detail
Genotype specific cerebellar involvement in dyt1 and dyt6 dystonia?
  • Publication Type:
    Journal article
  • Publication Sub Type:
    Journal Article
  • Authors:
    Sadnicka A, Teo J, Kojovic M, Kassavetis P, Saifee T, Isabel P, Schwingenschuh P, Rothwell J, Bhatia K, Edwards M
  • Publication date:
  • Pagination:
    e2, ?
  • Journal:
    J Neurol Neurosurg Psychiatry
  • Volume:
  • Issue:
  • Country:
  • PII:
  • Language:
  • Keywords:
  • Addresses:
    University College London.
Dystonia has historically been considered a disorder of the basal ganglia, however recent clinical and experimental observations promote the hypothesis that the dystonic neuroanatomical network is wider. In particular there is evidence that the cerebellum is a key structure within this network.(1) Eye blink conditioning is a well characterised experimental paradigm that is highly conserved across species and is dependent upon the cerebellum. Previously it has been shown that levels of eye blink conditioning are reduced in cervical and focal hand dystonia, which suggests impaired cerebellar function in these subsets of dystonia.(2) METHOD: In this study we examined eye blink conditioning in 11 patients with genetically confirmed DYT-1 dystonia and five patients with DYT-6 dystonia. 15 healthy age matched controls were also studied. Eye blink conditioning consisted of the pairing of a conditioning stimulus (CS) (salient 2kHz, 400 ms auditory tone via binaural headphones) with a strong unconditioned electrical stimulus (US) (200 µs pulse width, 5×sensory threshold, supraorbital nerve) 400 ms after the conditioning stimulus in order to elicit a blink reflex. After repeated pairings, conditioned responses (consisting of an eye blink starting before the US) are usually seen in healthy subjects. Conditioning consisted of six learning blocks of 11 trials: trials 1-9 were always CS-US pairs, trial 10 was US only and trial 11 was CS only. The main outcome variable was the number of conditioning responses in the final block.
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