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Mutations in ARX result in several defects involving GABAergic neurons

Friocourt, G.; Parnavelas, J.G.; (2010) Mutations in ARX result in several defects involving GABAergic neurons. Frontiers in Cellular Neuroscience , 4 (4) 10.3389/fncel.2010.00004. Green open access

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Abstract

Genetic investigations of X-linked mental retardation have demonstrated the implication of ARX in a wide spectrum of disorders extending from phenotypes with severe neuronal migration defects, such as lissencephaly, to mild or moderate forms of mental retardation without apparent brain abnormalities, but with associated features of dystonia and epilepsy. These investigations have in recent years directed attention to the role of this gene in brain development. Analysis of its spatio-temporal localisation profile revealed expression in telencephalic structures at all stages of development, mainly restricted to populations of GABA-containing neurons. Furthermore, studies of the effects of ARX loss of function either in humans or in lines of mutant mice revealed varying defects, suggesting multiple roles of this gene during development. In particular, Arx has been shown to contribute to almost all fundamental processes of brain development: patterning, neuronal proliferation and migration, cell maturation and differentiation, as well as axonal outgrowth and connectivity. In this review, we will present and discuss recent findings concerning the role of ARX in brain development and how this information will be useful to better understand the pathophysiological mechanisms of mental retardation and epilepsy associated with ARX mutations.

Type: Article
Title: Mutations in ARX result in several defects involving GABAergic neurons
Open access status: An open access version is available from UCL Discovery
DOI: 10.3389/fncel.2010.00004
Publisher version: http://dx.doi.org/10.3389/fncel.2010.00004
Language: English
Additional information: Copyright: © 2010 Friocourt and Parnavelas. This Document is protected by copyright and was first published by the "Frontiers In" series of journals. All rights reserved. Reproduced with permission.
Keywords: ARX, GABA, lissencephaly, epilepsy, interneurons, neuronal migration, basal ganglia
UCL classification: UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Life Sciences > Div of Biosciences > Cell and Developmental Biology
URI: https://discovery.ucl.ac.uk/id/eprint/19120
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