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Postsynaptic movement disorders: clinical phenotypes, genotypes, and disease mechanisms

Abela, L; Kurian, MA; (2018) Postsynaptic movement disorders: clinical phenotypes, genotypes, and disease mechanisms. Journal of Inherited Metabolic Disease , 41 (6) pp. 1077-1091. 10.1007/s10545-018-0205-0. Green open access

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Abstract

Movement disorders comprise a group of heterogeneous diseases with often complex clinical phenotypes. Overlapping symptoms and a lack of diagnostic biomarkers may hamper making a definitive diagnosis. Next-generation sequencing techniques have substantially contributed to unraveling genetic etiologies underlying movement disorders and thereby improved diagnoses. Defects in dopaminergic signaling in postsynaptic striatal medium spiny neurons are emerging as a pathogenic mechanism in a number of newly identified hyperkinetic movement disorders. Several of the causative genes encode components of the cAMP pathway, a critical postsynaptic signaling pathway in medium spiny neurons. Here, we review the clinical presentation, genetic findings, and disease mechanisms that characterize these genetic postsynaptic movement disorders.

Type: Article
Title: Postsynaptic movement disorders: clinical phenotypes, genotypes, and disease mechanisms
Open access status: An open access version is available from UCL Discovery
DOI: 10.1007/s10545-018-0205-0
Publisher version: https://doi.org/10.1007/s10545-018-0205-0
Language: English
Additional information: 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.
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 Population Health Sciences > UCL GOS Institute of Child Health
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health > Developmental Neurosciences Dept
URI: https://discovery.ucl.ac.uk/id/eprint/10051458
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