SavedAdd your journal

Journals / Türkiye Fiziksel Tıp ve Rehabilitasyon Dergisi / 2005 / Cilt: 51 - Sayı: 4

Genetics in restless legs syndrome

Huzursuz bacak sendromunda genetik

Suat ACAR
Ahmet Murat GENCER
Pages
156–160
Publication Date
2022-11-05
DOI
—
🏛️Bibliographic metadata and full text access for this article are provided via DergiPark.
DergiPark Record ↗
✨

AI Summary & Key Takeaways

AI Insight
⚡ TL;DR(Too Long; Didn't Read)

In conclusion, RLS is a heterogenous genetical disorder and new investigations are needed in the identification of the RLS genes.

📌 3 Key Takeaways

🎯
Objective & Hypothesis:Restless legs syndrome (RLS); is a sensorimotor disorder characterized by an urge or need to move the limbs, usually associated with abnormal sensations in the legs.
📊
Key Findings & Data:Epidemiological studies indicate that the symptoms of RLS are present in about 5-15% of the general population.
💡
Conclusion & Impact:In conclusion, RLS is a heterogenous genetical disorder and new investigations are needed in the identification of the RLS genes.
🔬Design:Survey & Empirical Study
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters

Abstract

Restless legs syndrome (RLS); is a sensorimotor disorder characterized by an urge or need to move the limbs, usually associated with abnormal sensations in the legs. These symptoms are worse at rest, are relieved by movement, and mainly occur at night. Epidemiological studies indicate that the symptoms of RLS are present in about 5-15% of the general population. The pathophysiology of RLS involve iron metabolism and dopaminergic system dysfunction. Dopaminergic and iron replacement therapy relieve the most symptoms of RLS. Clinical surveys of RLS have shown positive family history and suggested an autosomal dominant inheritance with variable expressivity, and some families show possible anticipation. Molecular genetic studies did not show any significant finding but genome-wide studies showed that susceptibility locus on chromosome 9, 12 and 14 were confirmed in RLS patients. In conclusion, RLS is a heterogenous genetical disorder and new investigations are needed in the identification of the RLS genes.

Özet

Huzursuz bacak sendromu (HBS); bacakları hareket ettirme dürtüsü veya ihtiyacı ile bacaklarda anormal duyularla karakterize, sensorimotor bir bozukluktur. Semptomlar genelde geceleri oluşur, dinlenmekle kötüleşip, hareketle düzelir. Epidemiyolojik çalışmalara göre HBS semptomları populasyonun %5-15 kadarında görülmektedir. HBS’nin patofizyolojisinde demir metabolizması ve dopaminerjik sistem bozuklukları saptanmıştır. Dopaminerjik ve demir replasman tedavileri HBS’in birçok semptomunu düzeltmektedir. HBS’nin klinik araştırmalarında pozitif aile öyküsü mevcut olup, değişik oranlarda otozomal dominant geçiş saptanmış, bazı ailelerde uyumlu sonuçlar elde edilmiştir. HBS hastalarının moleküler genetik incelemelerinde kesin veriler saptanamamış ancak geniş genom çalışmalarında; 9, 12 ve 14. kromozomlarda değerli bulgular elde edilmiştir. Sonuç olarak HBS; heterojen genetik bir hastalık olup HBS ile ilgili genlerin belirlenmesinde ileri çalışmalara ihtiyaç vardır.

🔖

Cite This Article

ACAR, S., GENCER, A. M. (2022). Genetics in restless legs syndrome. Türkiye Fiziksel Tıp ve Rehabilitasyon Dergisi, Cilt: 51 - Sayı: 4, 156–160. https://ajindex.com/articles/629246

📄 Full Text PDF Viewer

📄

PDF görüntüleyici hazırlanıyor...

References (12)

  1. Ekbom KA. Asthenia crurum paraesthetica (Irritabl legs). New syndrome consisting of weakness, sensation of cold and nocturnal paresthesia in legs, responding to certain extent to treatment with Priscol and Doryl; note on paresthesia in general. Acta Med Scand 1944;118:197-209. 2. van de Vijver DAMC, Walley T, Petri H. Epidemiology of restless legs syndrome as diagnosed in UK primary care. Sleep Med 2004;5:435-40
  2. Phillips B, Young T, Finn L, Asher K, Hening WA, Purvis C. Epidemiology of restless legs symptoms in adults. Arch Intern Med 2000;160(14):2137-41
  3. Rothdach AJ, Trenkwalder C, Haberstock J, Keil U, Berger K. Prevalence and risk factors of RLS in an elderly population: the MEMO study. Memory and morbidity in Augsburg elderly. Neurology 2000;54:1064-8
  4. Ulfberg J, Nystrom B, Carter N, Edling C. Prevalence of restless legs syndrome among men aged 18 to 64 years: an association with somatic disease and neuropsychiatric symptoms. Mov Disord 2001;16(6):1159-63
  5. Berger K, Luedemann J, Trenkwalder C, John U, Kessler C. Sex and the risk of restless legs syndrome in the general population. Arch Intern Med 2004;164(2):196-202
  6. Hening W, Walters AS, Allen RP, Montplaisir J, Myers A, Ferini-Strambi L. Impact, diagnosis and treatment of restless legs syndrome (RLS) in a primary care population: the REST (RLS epidemiology, symptoms, and treatment) primary care study. Sleep Med 2004;5:237-46
  7. Kageyama T, Kabuto M, Nitta H, et al. Prevalences of periodic limb movements of sleep and restless legs syndrome among Japanese adults. Psychiatry Clin Neurosci 2000;54:296-8
  8. Sevim S, Doğu O, Çamdeviren H, Buğdaycı R, Şaşmaz T, Kaleağası H, et al. Unexpectedly low prevalence and unusual characteristics of RLS in Mersin, Turkey. Neurology 2003;61(11):1562-9
  9. Walters AS. Toward a better definition of the restless legs syndrome. The International Restless Legs Syndrome Study Group. Mov Disord 1995;10(5):634-42
  10. Doran AR, Labarca R, Wolkowitz OM, Roy A, Douillet P, Pickar D. Circadian variation of plasma homovanillic acide levels is attenuated by fluphenazine in patients with schizophrenia. Arc Gen Psychiatry 1990;47(6):558-63
  11. Earley CJ, Connor JR, Beard JL, Malecki EA, Epstein DK, Allen RP. Abnormalities in CSF concentrations of ferritin and transferrin in restless legs syndrome. Neurology 2000;54:1698-700
  12. Trenkwalder C, Paulus W. Why do restless legs occur at rest?-pathophysiology of neuronal structures in RLS. Neurophysiology of RLS (p