Dystonia: opportunities to gain insights into underlying pathophysiological mechanisms

Robertson, Neil ORCID: https://orcid.org/0000-0002-5409-4909 and Peall, Kathryn J ORCID: https://orcid.org/0000-0003-4749-4944 2017. Dystonia: opportunities to gain insights into underlying pathophysiological mechanisms. Journal of Neurology 264 (3) , pp. 616-618. 10.1007/s00415-017-8411-5

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Abstract

Dystonia is one of the most common movement disorders, a core component of the isolated and combined dystonias as well as contributing to the motor phenotype of several neurodegenerative movement disorders, such as Parkinson’s disease and Huntington’s disease. In spite of this, the pathophysiological mechanisms underlying dystonia remain poorly understood with the current thinking centered on a circuit-based disorder, with altered synaptic plasticity impacting higher neuronal circuits and networks. In this review, we discuss three publications with distinct approaches in attempting to elucidate these mechanisms. These articles also highlight how the combination of gene discovery, cellular assays, and systems-based analysis can each contribute to building an understanding of complex disorders.

Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	MRC Centre for Neuropsychiatric Genetics and Genomics (CNGG) Medicine Neuroscience and Mental Health Research Institute (NMHRI)
Subjects:	R Medicine > R Medicine (General)
Publisher:	Springer
ISSN:	0340-5354
Date of First Compliant Deposit:	21 March 2017
Date of Acceptance:	2 February 2017
Last Modified:	06 May 2023 00:19
URI:	https://orca.cardiff.ac.uk/id/eprint/99235

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