Dystonia

Definition

Dystonia refers to a movement disorder characterized by abnormal posture or movements, caused by involuntary muscle contractions or cramps.

Latest Research and Reviews

  • Reviews |

    In this Perspective the authors provide a comparison of recent neurophysiological findings on the pathophysiology of three major movement disorders: Huntington's disease, l-DOPA-induced dyskinesia and dystonia. Both clinical and preclinical studies show that these hyperkinetic disorders share mechanisms underlying synaptic scaling and synaptic plasticity alterations in the basal ganglia–thalamo-cortical network.

    • Paolo Calabresi
    • , Antonio Pisani
    • , John Rothwell
    • , Veronica Ghiglieri
    • , Josè A Obeso
    •  & Barbara Picconi
    Nature Neuroscience 19, 868–875
  • Research | | open

    Karin Tuschl, Philippa Mills and colleagues report mutations in the manganese (Mn) transporter gene SLC39A14 in childhood-onset parkinsonism-dystonia. Using functional recapitulation, the authors also show that slc39A14 loss-of-function in zebrafish can lead to Mn dysregulation and locomotor impairment.

    • Karin Tuschl
    • , Esther Meyer
    • , Leonardo E. Valdivia
    • , Ningning Zhao
    • , Chris Dadswell
    • , Alaa Abdul-Sada
    • , Christina Y. Hung
    • , Michael A. Simpson
    • , W. K. Chong
    • , Thomas S. Jacques
    • , Randy L. Woltjer
    • , Simon Eaton
    • , Allison Gregory
    • , Lynn Sanford
    • , Eleanna Kara
    • , Henry Houlden
    • , Stephan M. Cuno
    • , Holger Prokisch
    • , Lorella Valletta
    • , Valeria Tiranti
    • , Rasha Younis
    • , Eamonn R. Maher
    • , John Spencer
    • , Ania Straatman-Iwanowska
    • , Paul Gissen
    • , Laila A. M. Selim
    • , Guillem Pintos-Morell
    • , Wifredo Coroleu-Lletget
    • , Shekeeb S. Mohammad
    • , Sangeetha Yoganathan
    • , Russell C. Dale
    • , Maya Thomas
    • , Jason Rihel
    • , Olaf A. Bodamer
    • , Caroline A. Enns
    • , Susan J. Hayflick
    • , Peter T. Clayton
    • , Philippa B. Mills
    • , Manju A. Kurian
    •  & Stephen W. Wilson
  • Reviews |

    Cerebral palsy is the most common cause of movement and posture disorders caused by brain injury acquired during the antenatal, perinatal or early postnatal period. Here, Graham et al. describe this complex disease entity, the possible causes and the clinical management of the disorder.

    • H. Kerr Graham
    • , Peter Rosenbaum
    • , Nigel Paneth
    • , Bernard Dan
    • , Jean-Pierre Lin
    • , Diane L. Damiano
    • , Jules G. Becher
    • , Deborah Gaebler-Spira
    • , Allan Colver
    • , Dinah S. Reddihough
    • , Kylie E. Crompton
    •  & Richard L. Lieber

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