GNAO1-related movement disorder with life-threatening exacerbations: Movement phenomenology and response to DBS

Abstract

GNAO1 (OMIM 139311) encodes a Gα₀CNS protein responsible for regulation of GABA-B and α2-receptors, and neurotransmitter release. Mutations of GNAO1 are reported in patients with epileptic encephalopathy (EE) at times with a movement disorder (MD); some display severe hyperkinetic movements without EE, three underwent Deep Brain Stimulation (DBS) with reduction in exacerbations. In this paper, the authors described the MD phenomenology and course in three patients with GNAO1-related MD, highlighting effectiveness of DBS in exacerbations. (PsycINFO Database Record (c) 2018 APA, all rights reserved)Department of Neuroscience, Rehabilitation and Metabolic Medicine, Lady Cilento Children’s Hospital, South Brisbane, QLD, Australia. Release Date: 20180412. Publication Type: Journal (0100), Peer Reviewed Journal (0110). Format Covered: Electronic. Document Type: Letter. Language: EnglishMajor Descriptor: Encephalopathies; Epilepsy; Movement Disorders; Mutations; Deep Brain Stimulation. Minor Descriptor: Genes. Classification: Neurological Disorders & Brain Damage (3297); Specialized Interventions (3350). Population: Human (10). Location: Australia; United Kingdom. Methodology: Brain Imaging; Empirical Study; Quantitative Study. Supplemental Data: Experimental Materials Internet; Tables and Figures Internet. References Available: Y. Page Count: 3. Issue Publication Date: Feb, 2018. Publication History: First Posted Date: Jul 1, 2017; Accepted Date: May 14, 2017; Revised Date: Apr 26, 2017; First Submitted Date: Jan 16, 2017. Copyright Statement: All rights reserved. No commercial use is permitted unless otherwise expressly granted. Article author(s) (or their employer(s) unless otherwise stated in the text of the article). 2018.Sponsor: Wellcome Trust. Recipients: No recipient indicated <br />