Startle syndromes
- PMID: 16713923
- DOI: 10.1016/S1474-4422(06)70470-7
Startle syndromes
Abstract
Startle syndromes consist of three heterogeneous groups of disorders with abnormal responses to startling events. The first is hyperekplexia, which can be split up into the "major" or "minor" form. The major form of hyperekplexia is characterised by excessive startle reflexes, startle-induced falls, and continuous stiffness in the neonatal period. This form has a genetic basis: mutations in the alpha1 subunit of the glycine receptor gene, GLRA1, or related genes. The minor form, which is restricted to excessive startle reflexes with no stiffness, has no known genetic cause or underlying pathophysiological substrate. The second group of startle syndromes are neuropsychiatric, in which excessive startling and various additional behavioural features occur. The third group are disorders in which startling stimuli can induce responses other than startle reflexes, such as startle-induced epilepsy. Diagnosis of startle syndromes depends on clinical history, electromyographic studies, and genetic screening. Further study of these disorders may enable improved discrimination between the different groups.
Similar articles
-
Startle syndromes.Handb Clin Neurol. 2011;100:421-30. doi: 10.1016/B978-0-444-52014-2.00032-X. Handb Clin Neurol. 2011. PMID: 21496599
-
Major and minor form of hereditary hyperekplexia.Mov Disord. 2002 Jul;17(4):826-30. doi: 10.1002/mds.10168. Mov Disord. 2002. PMID: 12210885
-
Exaggerated startle reactions.Clin Neurophysiol. 2012 Jan;123(1):34-44. doi: 10.1016/j.clinph.2011.09.022. Epub 2011 Oct 26. Clin Neurophysiol. 2012. PMID: 22033030 Review.
-
The startle syndromes: physiology and treatment.Epilepsia. 2012 Dec;53 Suppl 7:3-11. doi: 10.1111/j.1528-1167.2012.03709.x. Epilepsia. 2012. PMID: 23153204 Review.
-
[Familial hyperekplexia: startle disease. Clinical, electrophysiological and genetic study of a family].Rev Neurol (Paris). 1996 Jun-Jul;152(6-7):447-50. Rev Neurol (Paris). 1996. PMID: 8944241 Review. French.
Cited by
-
Neonatal Seizures in Low- and Middle-Income Countries: A Review of the Literature and Recommendations for the Management.Turk Arch Pediatr. 2024 Jan;59(1):13-22. doi: 10.5152/TurkArchPediatr.2024.23250. Turk Arch Pediatr. 2024. PMID: 38454256 Free PMC article.
-
Treatment of startle and related disorders.Clin Park Relat Disord. 2023 Sep 21;9:100218. doi: 10.1016/j.prdoa.2023.100218. eCollection 2023. Clin Park Relat Disord. 2023. PMID: 37808566 Free PMC article. No abstract available.
-
Myoclonus and other jerky movement disorders.Clin Neurophysiol Pract. 2022 Oct 6;7:285-316. doi: 10.1016/j.cnp.2022.09.003. eCollection 2022. Clin Neurophysiol Pract. 2022. PMID: 36324989 Free PMC article. Review.
-
Startle-Induced Epileptic Spasms: A Clinical and Video-EEG Study.Front Neurol. 2022 Jun 15;13:878504. doi: 10.3389/fneur.2022.878504. eCollection 2022. Front Neurol. 2022. PMID: 35785347 Free PMC article.
-
PURA-Related Developmental and Epileptic Encephalopathy: Phenotypic and Genotypic Spectrum.Neurol Genet. 2021 Nov 15;7(6):e613. doi: 10.1212/NXG.0000000000000613. eCollection 2021 Dec. Neurol Genet. 2021. PMID: 34790866 Free PMC article.
Publication types
MeSH terms
LinkOut - more resources
Full Text Sources
Other Literature Sources
Medical
Molecular Biology Databases