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Review
. 2021 Oct;42(10):4095-4107.
doi: 10.1007/s10072-021-05493-8. Epub 2021 Aug 11.

Advances in hyperekplexia and other startle syndromes

Fei-Xia Zhan  1 , Shi-Ge Wang  1 , Li Cao  2
Affiliations
Review

Advances in hyperekplexia and other startle syndromes

Fei-Xia Zhan et al. Neurol Sci. 2021 Oct.

Abstract

Startle, a basic alerting reaction common to all mammals, is described as a sudden involuntary movement of the body evoked by all kinds of sudden and unexpected stimulus. Startle syndromes are heterogeneous groups of disorders with abnormal and exaggerated responses to startling events, including hyperekplexia, stimulus-induced disorders, and neuropsychiatric startle syndromes. Hyperekplexia can be attributed to a genetic, idiopathic, or symptomatic cause. Excluding secondary factors, hereditary hyperekplexia, a rare neurogenetic disorder with highly genetic heterogeneity, is characterized by neonatal hypertonia, exaggerated startle response provoked by the sudden external stimuli, and followed by a short period of general stiffness. It mainly arises from defects of inhibitory glycinergic neurotransmission. GLRA1 is the major pathogenic gene of hereditary hyperekplexia, along with many other genes involved in the function of glycinergic inhibitory synapses. While about 40% of patients remain negative genetic findings. Clonazepam, which can specifically upgrade the GABARA1 chloride channels, is the main and most effective administration for hereditary hyperekplexia patients. In this review, with the aim at enhancing the recognition and prompting potential treatment for hyperekplexia, we focused on discussing the advances in hereditary hyperekplexia genetics and the expound progress in pathogenic mechanisms of the glycinergic-synapse-related pathway and then followed by a brief overview of other common startle syndromes.

Keywords: Clonazepam; Dr. Zhan and Dr. Wang contributed in manuscript preparation by performing the literature review and writing the first draft. Prof. Cao critically revised the work; Genetics; Glycine receptor; Hereditary hyperekplexia; Inhibitory glycinergic synapse; Startle syndromes.

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References

    1. Bakker MJ, van Dijk JG, van den Maagdenberg AM, Tijssen MA (2006) Startle syndromes. Lancet Neurol 5(6):513–524. https://doi.org/10.1016/S1474-4422(06)70470-7 - DOI - PubMed
    1. Saini A, Pandey S (2020) Hyperekplexia and other startle syndromes. J Neurol Sci 416:117051. https://doi.org/10.1016/j.jns.2020.117051 - DOI - PubMed
    1. Bhidayasiri R, Truong D (2011) Startle syndromes. Handb Clin Neurol 100:421–430. https://doi.org/10.1016/B978-0-444-52014-2.00032-X - DOI - PubMed
    1. Meinck H (2006) Startle and its disorders. Neurophysiol Clin 36(5–6):357–364. https://doi.org/10.1016/j.neucli.2006.12.007 - DOI - PubMed
    1. Bode A, Lynch JW (2014) The impact of human hyperekplexia mutations on glycine receptor structure and function. Mol Brain 7:2. https://doi.org/10.1186/1756-6606-7-2 - DOI - PubMed - PMC

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