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Emerging Monogenic Complex Hyperkinetic Disorders

Carecchio, M; Mencacci, NE; (2017) Emerging Monogenic Complex Hyperkinetic Disorders. Current Neurology and Neuroscience Reports , 17 (12) , Article 97. 10.1007/s11910-017-0806-2. Green open access

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Abstract

PURPOSE OF REVIEW: Hyperkinetic movement disorders can manifest alone or as part of complex phenotypes. In the era of next-generation sequencing (NGS), the list of monogenic complex movement disorders is rapidly growing. This review will explore the main features of these newly identified conditions. RECENT FINDINGS: Mutations in ADCY5 and PDE10A have been identified as important causes of childhood-onset dyskinesias and KMT2B mutations as one of the most frequent causes of complex dystonia in children. The delineation of the phenotypic spectrum associated with mutations in ATP1A3, FOXG1, GNAO1, GRIN1, FRRS1L, and TBC1D24 is revealing an expanding genetic overlap between epileptic encephalopathies, developmental delay/intellectual disability, and hyperkinetic movement disorders,. SUMMARY: Thanks to NGS, the etiology of several complex hyperkinetic movement disorders has been elucidated. Importantly, NGS is changing the way clinicians diagnose these complex conditions. Shared molecular pathways, involved in early stages of brain development and normal synaptic transmission, underlie basal ganglia dysfunction, epilepsy, and other neurodevelopmental disorders.

Type: Article
Title: Emerging Monogenic Complex Hyperkinetic Disorders
Open access status: An open access version is available from UCL Discovery
DOI: 10.1007/s11910-017-0806-2
Publisher version: https://doi.org/10.1007/s11910-017-0806-2
Language: English
Additional information: Copyright © The Author(s) 2017. Open Access: This article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made.
Keywords: Hyperkinetic, Movement disorders, Genetics, Next-generation sequencing, Epilepsy
UCL classification: UCL
UCL > Provost and Vice Provost Offices
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
URI: https://discovery.ucl.ac.uk/id/eprint/10041778
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