Skip to main content

Advertisement

SpringerLink
Log in

Clinical and polysomnographic features of a large Turkish pedigree with restless leg syndrome and periodic limb movements

  • Original Article
  • Published:
Sleep and Breathing Aims and scope Submit manuscript

Abstract

Purpose

Restless leg syndrome (RLS) and periodic limb movements (PLMS) are common neurological diseases often associated with insomnia. A familial aggregation in RLS has been identified since it was first described; however, inheritance patterns of RLS/PLMS are poorly understood and their exact pathophysiology is not well-known. We have identified a Turkish pedigree with RLS/PLMS, which is a rare condition, in five generations of a family, including nine affected family members.

Methods

A detailed clinical evaluation of the family was conducted with the help of polysomnographic recording, electrophysiological findings, and biochemical parameters.

Results

The proband is a 38-year-old male member of the family who first started to show symptoms at the age of 29. All the patients from this family have been diagnosed with RLS, according to the criteria of the International RLS Study Group. Disease onset was early in all cases and even earlier in the younger generation. Three affected individuals also had PLMS on polysomnographic recordings.

Conclusion

To our knowledge, this is the first Turkish family in which nine individuals in five generations are affected. We suggest an important effect of anticipation and genetic impact of the diseases and describe specific clinical features. Further investigation of clinical, genetic, and biochemical similarities between PLMS and RLS may yield important clues, adding to our understanding of the pathophysiology of these common diseases.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Fig. 1

Similar content being viewed by others

References

  1. Natarajan R (2010) Review of periodic limb movement and restless leg syndrome. J Postgrad Med 56:157–162

    Article  PubMed  CAS  Google Scholar 

  2. American Academy of Sleep Medicine (2005) International classification of sleep disorders, 2nd ed. Diagnostic and coding manual. Westchester

  3. Pollmächer T, Schulz H (1993) Periodic leg movements (PLM): their relationship to sleep stages. Sleep 16:572–577

    PubMed  Google Scholar 

  4. Coleman RM, Pollak CP, Weitzman ED (1980) Periodic movements in sleep (nocturnal myoclonus): relation to sleep disorders. Ann Neurol 8:416–421

    Article  PubMed  CAS  Google Scholar 

  5. Allen RP, Picchietti D, Hening WA, Trenkwalder C, Walters AS, Montplaisi J (2003) Restless legs syndrome: diagnostic criteria, special considerations, and epidemiology. A report from the restless legs syndrome diagnosis and epidemiology workshop at the National Institutes of Health. Sleep Med 4:101–119

    Article  PubMed  Google Scholar 

  6. Hornyak M, Feige B, Voderholzer U, Philipsen A, Riemann D (2007) Polysomnography findings in patients with restless legs syndrome and in healthy controls: a comparative observational study. Sleep 30:861–865

    PubMed  Google Scholar 

  7. Yeh P, Walters AS, Tsuang JW (2012) Restless legs syndrome: a comprehensive overview on its epidemiology, risk factors, and treatment. Sleep Breath. doi:10.1007/s11325-011-0606-x

  8. Winkelmann J, Schormair B, Lichtner P, Ripke S, Xiong L, Jalilzadeh S, Fulda S, Pütz B, Eckstein G, Hauk S, Trenkwalder C, Zimprich A, Stiasny-Kolster K, Oertel W, Bachmann CG, Paulus W, Peglau I, Eisensehr I, Montplaisir J, Turecki G, Rouleau G, Gieger C, Illig T, Wichmann HE, Holsboer F, Müller-Myhsok B, Meitinger T (2007) Genome-wide association study of restless legs syndrome identifies common variants in three genomic regions. Nat Genet 39:1000–1006

    Article  PubMed  CAS  Google Scholar 

  9. Schormair B, Kemlink D, Roeske D, Eckstein G, Xiong L, Lichtner P, Ripke S, Trenkwalder C, Zimprich A, Stiasny-Kolster K, Oertel W, Bachmann CG, Paulus W, Högl B, Frauscher B, Gschliesser V, Poewe W, Peglau I, Vodicka P, Vávrová J, Sonka K, Nevsimalova S, Montplaisir J, Turecki G, Rouleau G, Gieger C, Illig T, Wichmann HE, Holsboer F, Müller-Myhsok B, Meitinger T, Winkelmann J (2008) PTPRD (protein tyrosine phosphatase receptor type delta) is associated with restless legs syndrome. Nat Genet 40:946–948

    Article  PubMed  CAS  Google Scholar 

  10. Stefansson H, Rye DB, Hicks A, Petursson H, Ingason A, Thorgeirsson TE, Palsson S, Sigmundsson T, Sigurdsson AP, Eiriksdottir I, Soebech E, Bliwise D, Beck JM, Rosen A, Waddy S, Trotti LM, Iranzo A, Thambisetty M, Hardarson GA, Kristjansson K, Gudmundsson LJ, Thorsteinsdottir U, Kong A, Gulcher JR, Gudbjartsson D, Stefansson K (2007) A genetic risk factor for periodic limb movements in sleep. N Engl J Med 357:639–647

    Article  PubMed  CAS  Google Scholar 

  11. Trenkwalder C, Paulus W (2010) Restless legs syndrome: pathophysiology, clinical presentation and management. Nat Rev Neurol 6:337–346

    Article  PubMed  Google Scholar 

  12. Rechtschaffen A, Kales A (1968) A manual of standardized terminology, techniques and scoring system for sleep stages of human subjects. University of California, Brain Information Service/Brain Research Institute, Los Angeles

    Google Scholar 

  13. Lapierre O, Montplaisir J (1992) Polysomnographic features of REM sleep behavior disorder: development of a scoring method. Neurology 42:1371–1374

    Article  PubMed  CAS  Google Scholar 

  14. Montplaisir J, Boucher S, Poirier G, Lavigne G, Lapierre O, Lespérance P (1997) Clinical, polysomnographic, and genetic characteristics of restless legs syndrome: a study of 133 patients diagnosed with new standard criteria. Mov Disord 12:61–65

    Article  PubMed  CAS  Google Scholar 

  15. Picchietti DL, Walters AS (1999) Moderate to severe periodic limb movement disorder in childhood and adolescence. Sleep 22:297–300

    PubMed  CAS  Google Scholar 

  16. Trotti LM, Bliwise DL, Greer SA, Sigurdsson AP, Gudmundsdóttir GB, Wessel T, Organisak LM, Sigthorsson T, Kristjansson K, Sigmundsson T, Rye DB (2009) Correlates of PLMs variability over multiple nights and impact upon RLS diagnosis. Sleep Med 10:668–671

    Article  PubMed  Google Scholar 

  17. Koo BB (2012) Restless legs syndrome: relationship between prevalence and latitude. Sleep Breath. doi:10.1007/s11325-011-0640-8

  18. Ekbom KA (1945) Restless legs: a clinical study. Acta Med Scand 158:1–123

    Google Scholar 

  19. Desautels A, Turecki G, Montplaisir J, Xiong L, Walters AS, Ehrenberg BL, Brisebois K, Desautels AK, Gingras Y, Johnson WG, Lugaresi E, Coccagna G, Picchietti DL, Lazzarini A, Rouleau GA (2005) Restless legs syndrome: confirmation of linkage to chromosome 12q, genetic heterogeneity, and evidence of complexity. Arch Neurol 62:591–596

    Article  PubMed  Google Scholar 

  20. Lazzarini A, Walters AS, Hickey K, Coccagna G, Lugaresi E, Ehrenberg BL, Picchietti DL, Brin MF, Stenroos ES, Verrico T, Johnson WG (1999) Studies of penetrance and anticipation in five autosomal-dominant restless legs syndrome pedigrees. Mov Disord 14:111–116

    Article  PubMed  CAS  Google Scholar 

  21. Esteves AM, Pedrazzoli M, Bagnato M, Moreira F, de Mello MT, Tufik S (2008) Two pedigrees with restless legs syndrome in Brazil. Braz J Med Biol Res 41:106–109

    Article  PubMed  CAS  Google Scholar 

  22. Koc I (2008) Prevalence and sociodemographic correlates of consanguineous marriages in Turkey. J Biosoc Sci 40:137–148

    Article  PubMed  Google Scholar 

  23. Trenkwalder C, Seidel VC, Gasser T, Oertel WH (1996) Clinical symptoms and possible anticipation in a large kindred of familial restless legs syndrome. Mov Disord 11:389–394

    Article  PubMed  CAS  Google Scholar 

  24. Birinyi PV, Allen RP, Hening W, Washburn T, Lesage S, Earley CJ (2006) Undiagnosed individuals with first-degree relatives with restless legs syndrome have increased periodic limb movements. Sleep Med 7:480–485

    Article  PubMed  Google Scholar 

  25. Ancoli-Israel S, Kripke DF, Klauber MR, Mason WJ, Fell R, Kaplan O (1991) Periodic limb movements in sleep in community-dwelling elderly. Sleep 14:496–500

    PubMed  CAS  Google Scholar 

  26. Youngstedt SD, Kripke DF, Klauber MR, Sepulveda RS, Mason WJ (1998) Periodic leg movements during sleep and sleep disturbances in elders. J Gerontol A Biol Sci Med Sci 53:391–394

    Article  Google Scholar 

  27. Kirk VG, Bohn S (2004) Periodic limb movements in children: prevalence in a referred population. Sleep 27:313–315

    PubMed  Google Scholar 

  28. Picchietti DL, Underwood DJ, Farris WA, Walters AS, Shah MM, Dahl RE, Trubnick LJ, Bertocci MA, Wagner M, Hening WA (1999) Further studies on periodic limb movement disorder and restless legs syndrome in children with attention-deficit hyperactivity disorder. Mov Disord 14:1000–1007

    Article  PubMed  CAS  Google Scholar 

  29. Sforza E, Pichot V, Barthelemy JC, Haba-Rubio J, Roche F (2005) Cardiovascular variability during periodic leg movements: a spectral analysis approach. Clin Neurophysiol 116:1096–1104

    Article  PubMed  Google Scholar 

  30. Guggisberg AG, Hess CW, Mathis J (2007) The significance of the sympathetic nervous system in the pathophysiology of periodic leg movements in sleep. Sleep 30:755–766

    PubMed  Google Scholar 

  31. Nazhel B, Yetkin I, Irkeç C, Koçer B (2002) Sympathetic skin response in diabetic neuropathy. Electromyogr Clin Neurophysiol 42:181–185

    PubMed  CAS  Google Scholar 

  32. Carskadon MA, Dement WC (1994) Normal human sleep: an overview. In: Principles and practice of sleep medicine. Saunders, Philadelphia, pp. 16–25

Download references

Acknowledgments

The authors thank the participating family members for their collaboration and Marianne Abrams for language editing.

Author information

Authors and Affiliations

  1. Department of Neurology, Bezmialem Vakif University, School of Medicine, Istanbul, Turkey

    Gülsen Babacan-Yildiz, Esra Gürsoy, Mehmet Kolukisa & Arif Celebi

  2. Department of Chest Diseases, Bezmialem Vakif University, School of Medicine, Istanbul, Turkey

    Fatmanur Karaköse & Emin M. Akkoyunlu

  3. Department of Neurology, Istanbul Medical School, Istanbul University, 30390, Istanbul, Turkey

    Ebba Lohmann

Authors
  1. Gülsen Babacan-Yildiz
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Esra Gürsoy
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Mehmet Kolukisa
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Fatmanur Karaköse
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Emin M. Akkoyunlu
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. Arif Celebi
    View author publications

    You can also search for this author in PubMed Google Scholar

  7. Ebba Lohmann
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Ebba Lohmann.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Babacan-Yildiz, G., Gürsoy, E., Kolukisa, M. et al. Clinical and polysomnographic features of a large Turkish pedigree with restless leg syndrome and periodic limb movements. Sleep Breath 17, 741–746 (2013). https://doi.org/10.1007/s11325-012-0756-5

Download citation

  • Received:

  • Revised:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s11325-012-0756-5

Keywords

Search

Navigation