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 |

    Deep brain stimulation is used to treat a variety of neurological conditions, including Parkinson disease, dystonia and intractable pain, but the mechanisms underlying its therapeutic effects remain unclear. Drawing on clinical and experimental data, the authors examine hypotheses that have been proposed to explain the effects of DBS, and present the case for a change in terminology to 'deep brain neuromodulation'.

    • Keyoumars Ashkan
    • , Priya Rogers
    • , Hagai Bergman
    •  & Ismail Ughratdar
  • 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

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