Article Text

Download PDFPDF

Review
Pathogenesis of dystonia: is it of cerebellar or basal ganglia origin?
  1. Ryuji Kaji1,
  2. Kailash Bhatia2,
  3. Ann M Graybiel3
  1. 1 Department of Neurology, Tokushima University School of Medicine, Tokushima, Japan
  2. 2 Sobell Department of Movement Neuroscience, UCL Institute of Neurology, London, UK
  3. 3 Department of Brain and Cognitive Sciences, Massachusetts Institute of Technology McGovern Institute for Brain Research, Cambridge, Massachusetts, USA
  1. Correspondence to Dr Ryuji Kaji, Department of Neurology, Tokushima University, Tokushima 770-8503, Japan; rkaji{at}clin.med.tokushima-u.ac.jp

Abstract

Dystonia is a disorder of motor programmes controlling semiautomatic movements or postures, with clinical features such as sensory trick, which suggests sensorimotor mismatch as the basis. Dystonia was originally classified as a basal ganglia disease. It is now regarded as a ‘network’ disorder including the cerebellum, but the exact pathogenesis being unknown. Rare autopsy studies have found pathology both in the striatum and the cerebellum, and functional disorganisation was reported in the somatosensory cortex in patients. Recent animal studies showed physiologically tight disynaptic connections between the cerebellum and the striatum. We review clinical evidence in light of this new functional interaction between the cerebellum and basal ganglia, and put forward a hypothesis that dystonia is a basal ganglia disorder that can be induced by aberrant afferent inputs from the cerebellum.

  • dystonia
  • cerebellar disease
  • functional imaging
  • movement disorders
  • neurophysiology

This is an Open Access article distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/

Statistics from Altmetric.com

Request Permissions

If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.

Footnotes

  • Contributors RK wrote the first draft, and KB and AMG reviewed and revised it.

  • Funding Funded by grants from Japanese Ministry of Health, Welfare and Labor (H28-019) and the Collaborative Center for X-linked Dystonia Parkinsonism at Massachusetts General Hospital.

  • Competing interests None declared.

  • Patient consent Obtained.

  • Provenance and peer review Commissioned; externally peer reviewed.