Excellent response to deep brain stimulation in a young girl with GNAO1-related progressive choreoathetosis
GNAO1 (guanine nucleotide-binding protein, alpha-other) gene, located on chromosome 16q12.2, encodes the alpha subunit of the heterotrimeric guanine nucleotide binding proteins (G proteins). Three functional G-protein subtypes are defined, inhibitory G-proteins (Gi), stimulatory G-proteins (Gs), and other (Go). Go proteins modulate neurotransmitter release by mediating the presynaptic auto-inhibitory effect of several neurotransmitters on their receptors. Gαo subunit encoded by GNAO1 is expressed in brain tissue and has an important role in brain function .
KeywordsDeep Brain Stimulation Movement Disorder Spinal Muscular Atrophy Ketogenic Diet Creatine Kinase Level
Compliance with ethical standards
Informed consent was obtained from the parents of the case. Additional informed consent was obtained for the publication of the video files of the patient.
Conflict of interest
We declare that we have no conflict of interest.
- 5.Ananth AL, Robichaux-Viehoever A, et al (2016) Clinical course of six children with GNAO1 mutations causing a severe and distinctive movement disorder. Pediatr Neurol. (15)30159-4. doi: 10.1016/j.pediatrneurol.2016.02.018.