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Author Notes:

Corresponding author: H. A. Jinnah, MD, PhD, Departments of Neurology, Human Genetics and Pediatrics, Emory University, 6300 Woodruff Memorial Building, 101 Woodruff Circle, Atlanta GA, 30322 (hjinnah@emory.edu)

Financial disclosures related to the manuscript: None


Research Funding:

This work was supported in part by a grant to the Dystonia Coalition (U54 TR001456 and NS065701) from the Office of Rare Diseases Research (ORDR) in the National Center for Advancing Translational Sciences (NCATS) and the National Institute of Neurological Disorders and Stroke (NINDS) and by NINDS grant R01 NS088528.


  • Science & Technology
  • Life Sciences & Biomedicine
  • Clinical Neurology
  • Neurosciences & Neurology
  • Neurobiology
  • Pathogenesis
  • Pathophysiology
  • Neurogenetics
  • Neuroanatomy
  • Neurophysiology
  • MICE

Evolving concepts in the pathogenesis of dystonia


Journal Title:

Parkinsonism and Related Disorders


Volume 46


, Pages S62-S65

Type of Work:

Article | Post-print: After Peer Review


Introduction The dystonias are a group of disorders defined by over-contraction of muscles leading to abnormal movements and postures. In recent years, enormous advances have been made in elucidating the neurobiological mechanisms responsible for many types of dystonia. Methods A literature review was conducted focusing on evolving concepts in dystonia genetics, anatomy and physiology. Results The list of genes related to dystonia has grown from a relatively small number to more than 100. Concepts regarding the neuroanatomical basis for dystonia have evolved from a relatively narrow focus on dysfunction of the basal ganglia to a broader motor network model in which the basal ganglia, cerebellum, cerebral cortex, and other brain regions play a key role. Physiologically, our understanding of the core abnormalities has matured; and numerous changes in neural signaling have been revealed in the basal ganglia, cerebellum and cortex. Conclusion Although the dystonias share certain clinical aspects such as over-contraction of muscles leading to abnormal movements and postures, they actually comprise a very clinically and etiologically heterogeneous group of disorders. Understanding their neurobiological basis is important for devising rational therapies appropriately targeted for specific subgroups of patients.

Copyright information:

© 2017 Elsevier Ltd

This is an Open Access work distributed under the terms of the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License (http://creativecommons.org/licenses/by-nc-nd/4.0/).

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