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Primary and secondary dystonic syndromes: an update.

Charlesworth, G; Bhatia, KP; (2013) Primary and secondary dystonic syndromes: an update. Curr Opin Neurol , 26 (4) pp. 406-412. 10.1097/WCO.0b013e3283633696. Green open access

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Abstract

PURPOSE OF REVIEW: The dystonias are a common but complex group of disorders that show considerable variation in cause and clinical presentation. The purpose of this review is to highlight the most important discoveries and insights from across the field over the period of the past 18 months. RECENT FINDINGS: Five new genes for primary dystonia (PRRT2, CIZ1, ANO3, TUBB4A and GNAL) have made their appearance in the literature. New subtypes of neuronal brain iron accumulation have been delineated and linked to mutations in C19orf12 and WDR45, while a new treatable form of dystonia with brain manganese deposition related to mutations in SLC30A10 has been described. At the same time, the phenotypes of other forms of dystonic syndromes have been expanded or linked together. Finally, there has been increasing recognition of both the extramotor phenotype in dystonia and the part played by the cerebellum in its pathophysiology. SUMMARY: Recently, there has been unprecedented change in the scientific landscape with respect to the cause of various dystonic syndromes that is likely to make a direct impact on clinical practice in the near future. Understanding the genetic cause of these syndromes and the often wide phenotypic variation in their presentations will improve diagnosis and treatment. With time, these discoveries may also lead to much-needed progress in elucidating the underlying pathophysiology of dystonia.

Type: Article
Title: Primary and secondary dystonic syndromes: an update.
Open access status: An open access version is available from UCL Discovery
DOI: 10.1097/WCO.0b013e3283633696
Publisher version: http://dx.doi.org/10.1097/WCO.0b013e3283633696
Additional information: © 2013 Wolters Kluwer Health | Lippincott Williams & Wilkins. This is an open access article distributed under the Creative Commons Attribution License 4.0, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. http://creativecommons.org/licenses/by-nc-nd/4.0.
Keywords: cerebellum; dystonia; genetics; nonmotor; phenotype;
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Clinical and Movement Neurosciences
URI: https://discovery.ucl.ac.uk/id/eprint/1396579
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