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.
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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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