[Inversion of the circadian melatonin rhythm in Smith-Magenis syndrome] - PubMed (original) (raw)
. 2003 Nov;159(11 Suppl):6S21-6.
[Article in French]
Affiliations
- PMID: 14646795
[Inversion of the circadian melatonin rhythm in Smith-Magenis syndrome]
[Article in French]
H De Leersnyder et al. Rev Neurol (Paris). 2003 Nov.
Abstract
Smith-Magenis syndrome (SMS) is a genetic disease ascribed to an interstitial deletion on chromosome 17 (del 17p11); the prevalence is 1/25,000 births. The diagnosis is made on high-resolution karyotype confirmed by FISH. Clinical features include mild dysmorphism, short stature, other malformations (heart, renal, neurologic diseases). Mental retardation is constant; there are major behavioral disturbances and severe sleep disorders. We studied sleep disorders and melatonin secretion in SMS children and we have shown inversion of the circadian rhythm of melatonin, abnormally secreted during the day. This is the first biological model of behavioral and sleep disorder in a genetic disease. Therapeutic approach using beta-blockers in the morning and melatonin in the evening, reset circadian rhythm of melatonin, improve behavior and restore sleep.
Similar articles
- [Sleep disturbances in Smith-Magenis syndrome: treatment with melatonin and beta-adrenergic antagonists].
Van Thillo A, Devriendt K, Willekens D. Van Thillo A, et al. Tijdschr Psychiatr. 2010;52(10):719-23. Tijdschr Psychiatr. 2010. PMID: 20931486 Dutch. - Circadian rhythm abnormalities of melatonin in Smith-Magenis syndrome.
Potocki L, Glaze D, Tan DX, Park SS, Kashork CD, Shaffer LG, Reiter RJ, Lupski JR. Potocki L, et al. J Med Genet. 2000 Jun;37(6):428-33. doi: 10.1136/jmg.37.6.428. J Med Genet. 2000. PMID: 10851253 Free PMC article. - beta(1)-adrenergic antagonists improve sleep and behavioural disturbances in a circadian disorder, Smith-Magenis syndrome.
De Leersnyder H, de Blois MC, Vekemans M, Sidi D, Villain E, Kindermans C, Munnich A. De Leersnyder H, et al. J Med Genet. 2001 Sep;38(9):586-90. doi: 10.1136/jmg.38.9.586. J Med Genet. 2001. PMID: 11546826 Free PMC article. - Inverted rhythm of melatonin secretion in Smith-Magenis syndrome: from symptoms to treatment.
De Leersnyder H. De Leersnyder H. Trends Endocrinol Metab. 2006 Sep;17(7):291-8. doi: 10.1016/j.tem.2006.07.007. Epub 2006 Aug 4. Trends Endocrinol Metab. 2006. PMID: 16890450 Review. - Neurologic and developmental features of the Smith-Magenis syndrome (del 17p11.2).
Gropman AL, Duncan WC, Smith AC. Gropman AL, et al. Pediatr Neurol. 2006 May;34(5):337-50. doi: 10.1016/j.pediatrneurol.2005.08.018. Pediatr Neurol. 2006. PMID: 16647992 Review.
Cited by
- First Case Report of Smith-Magenis Syndrome (SMS) Among the Arab Community in Nazareth: View and Overview.
Nijim Y, Adawi A, Bisharat B, Bowirrat A. Nijim Y, et al. Medicine (Baltimore). 2016 Jan;95(3):e2362. doi: 10.1097/MD.0000000000002362. Medicine (Baltimore). 2016. PMID: 26817868 Free PMC article. - Smith-Magenis syndrome results in disruption of CLOCK gene transcription and reveals an integral role for RAI1 in the maintenance of circadian rhythmicity.
Williams SR, Zies D, Mullegama SV, Grotewiel MS, Elsea SH. Williams SR, et al. Am J Hum Genet. 2012 Jun 8;90(6):941-9. doi: 10.1016/j.ajhg.2012.04.013. Epub 2012 May 10. Am J Hum Genet. 2012. PMID: 22578325 Free PMC article.
MeSH terms
Substances
LinkOut - more resources
Full Text Sources
Medical