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Restless Legs Syndrome (RLS / Willis-Ekbom Disease) — References

Curated PubMed and primary-trial sources used to build the QSP model (≥30 references). Grouped by mechanism / clinical theme.

A. Epidemiology, diagnostic criteria, validation

  1. Allen RP et al. 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. 2003;4(2):101-119. https://pubmed.ncbi.nlm.nih.gov/14592341/
  2. Allen RP et al. Restless legs syndrome/Willis-Ekbom disease diagnostic criteria: updated International Restless Legs Syndrome Study Group (IRLSSG) consensus criteria. Sleep Med. 2014;15(8):860-873. https://pubmed.ncbi.nlm.nih.gov/25023924/
  3. Walters AS, IRLSSG. Validation of the International Restless Legs Syndrome Study Group rating scale for restless legs syndrome. Sleep Med. 2003;4(2):121-132. https://pubmed.ncbi.nlm.nih.gov/14592342/
  4. Ohayon MM et al. Epidemiology of restless legs syndrome: a synthesis of the literature. Sleep Med Rev. 2012;16(4):283-295. https://pubmed.ncbi.nlm.nih.gov/21795081/
  5. Allen RP, Earley CJ. Restless legs syndrome: a review of clinical and pathophysiologic features. J Clin Neurophysiol. 2001;18(2):128-147. https://pubmed.ncbi.nlm.nih.gov/11435804/

B. Genetics / GWAS

  1. Stefansson H et al. A genetic risk factor for periodic limb movements in sleep. N Engl J Med. 2007;357(7):639-647. https://pubmed.ncbi.nlm.nih.gov/17634447/
  2. Winkelmann J et al. Genome-wide association study of restless legs syndrome identifies common variants in three genomic regions. Nat Genet. 2007;39(8):1000-1006. https://pubmed.ncbi.nlm.nih.gov/17637780/
  3. Schormair B et al. Identification of novel risk loci for restless legs syndrome in genome-wide association studies in individuals of European ancestry: a meta-analysis. Lancet Neurol. 2017;16(11):898-907. https://pubmed.ncbi.nlm.nih.gov/29029846/
  4. Catoire H et al. Restless legs syndrome-associated MEIS1 risk variant influences iron homeostasis. Ann Neurol. 2011;70(1):170-175. https://pubmed.ncbi.nlm.nih.gov/21674590/
  5. Spieler D et al. Restless legs syndrome-associated intronic common variant in Meis1 alters enhancer function in the developing telencephalon. Genome Res. 2014;24(4):592-603. https://pubmed.ncbi.nlm.nih.gov/24642863/

C. Brain iron / ferritin

  1. Earley CJ et al. Abnormalities in CSF concentrations of ferritin and transferrin in restless legs syndrome. Neurology. 2000;54(8):1698-1700. https://pubmed.ncbi.nlm.nih.gov/10762522/
  2. Connor JR et al. Neuropathological examination suggests impaired brain iron acquisition in restless legs syndrome. Neurology. 2003;61(3):304-309. https://pubmed.ncbi.nlm.nih.gov/12913189/
  3. Allen RP et al. MRI measurement of brain iron in patients with restless legs syndrome. Neurology. 2001;56(2):263-265. https://pubmed.ncbi.nlm.nih.gov/11160969/
  4. Earley CJ et al. Increased CSF transferrin in restless legs syndrome. Brain. 2005;128(Pt 11):2722-2729. https://pubmed.ncbi.nlm.nih.gov/16012331/
  5. Earley CJ et al. Repeated IV doses of iron provides effective supplemental treatment of restless legs syndrome. Sleep Med. 2005;6(4):301-305. https://pubmed.ncbi.nlm.nih.gov/15978515/
  6. Allen RP et al. Evidence-based and consensus clinical practice guidelines for the iron treatment of restless legs syndrome/Willis-Ekbom disease in adults and children: an IRLSSG task force report. Sleep Med. 2018;41:27-44. https://pubmed.ncbi.nlm.nih.gov/29425576/

D. Dopaminergic pathophysiology

  1. Clemens S, Rye D, Hochman S. Restless legs syndrome: revisiting the dopamine hypothesis from the spinal cord perspective. Neurology. 2006;67(1):125-130. https://pubmed.ncbi.nlm.nih.gov/16832090/
  2. Earley CJ et al. Altered brain iron homeostasis and dopaminergic function in restless legs syndrome (Willis-Ekbom disease). Sleep Med. 2014;15(11):1288-1301. https://pubmed.ncbi.nlm.nih.gov/25201131/
  3. Connor JR et al. Iron and restless legs syndrome: treatment, genetics and pathophysiology. Sleep Med. 2017;31:61-70. https://pubmed.ncbi.nlm.nih.gov/28057437/
  4. Earley CJ et al. Increased striatal dopaminergic D2/D3 receptor in restless legs syndrome by PET imaging. Mov Disord. 2013;28(8):1144-1149. https://pubmed.ncbi.nlm.nih.gov/23681922/

E. Adenosine hypothesis (Ferré)

  1. Ferré S et al. New insights into the neurobiology of restless legs syndrome. Neuroscientist. 2019;25(2):113-125. https://pubmed.ncbi.nlm.nih.gov/29466913/
  2. Quiroz C et al. Adenosine receptors as markers of brain iron deficiency: implications for restless legs syndrome. Neuropharmacology. 2016;111:160-168. https://pubmed.ncbi.nlm.nih.gov/27600692/
  3. Garcia-Borreguero D, Cano I, Granizo JJ. Treatment of restless legs syndrome with the selective AMPA receptor antagonist perampanel. Sleep Med. 2017;34:105-108. https://pubmed.ncbi.nlm.nih.gov/28522076/
  4. Ferré S, Quiroz C, Guitart X, et al. Pivotal role of adenosine neurotransmission in restless legs syndrome. Front Neurosci. 2018;11:722. https://pubmed.ncbi.nlm.nih.gov/29358902/

F. Pharmacotherapy — dopamine agonists

  1. Trenkwalder C et al. Efficacy of rotigotine for treatment of moderate-to-severe restless legs syndrome: a randomised, double-blind, placebo-controlled trial. Lancet Neurol. 2008;7(7):595-604. https://pubmed.ncbi.nlm.nih.gov/18551472/
  2. Hening WA et al. Rotigotine improves restless legs syndrome: a 6-month randomized, double-blind, placebo-controlled trial in the United States. Mov Disord. 2010;25(11):1675-1683. https://pubmed.ncbi.nlm.nih.gov/20629075/
  3. Partinen M et al. Efficacy and safety of pramipexole in idiopathic restless legs syndrome: a polysomnography dose-finding study—the PRELUDE study. Sleep Med. 2006;7(5):407-417. https://pubmed.ncbi.nlm.nih.gov/16815749/
  4. Trenkwalder C et al. Efficacy of pramipexole in restless legs syndrome: a six-week, multicenter, randomized, double-blind study (effect-RLS study). Mov Disord. 2006;21(11):1804-1811. https://pubmed.ncbi.nlm.nih.gov/16933369/
  5. Garcia-Borreguero D et al. Ropinirole and pramipexole in restless legs syndrome: a randomised trial. Sleep Med. 2007;8(7-8):742-752. https://pubmed.ncbi.nlm.nih.gov/17512791/

G. Pharmacotherapy — α2δ ligands (gabapentinoids)

  1. Garcia-Borreguero D et al. Treatment of restless legs syndrome with gabapentin enacarbil: a randomized, double-blind, placebo-controlled, dose-finding study. Neurology. 2010;75(15):1356-1362. https://pubmed.ncbi.nlm.nih.gov/20881275/
  2. Allen RP et al. Comparison of pregabalin with pramipexole for restless legs syndrome. N Engl J Med. 2014;370(7):621-631. https://pubmed.ncbi.nlm.nih.gov/24521108/
  3. Winkelman JW et al. Efficacy and safety of pregabalin in moderate-to-severe primary restless legs syndrome. Neurology. 2014;82(24):2199-2206. https://pubmed.ncbi.nlm.nih.gov/24838789/

H. Pharmacotherapy — opioids

  1. Trenkwalder C et al. Prolonged-release oxycodone-naloxone for treatment of severe restless legs syndrome after failure of previous treatment: a double-blind, randomised, placebo-controlled trial with an open-label extension. Lancet Neurol. 2013;12(12):1141-1150. https://pubmed.ncbi.nlm.nih.gov/24140442/
  2. Walters AS, Winkelmann J, Trenkwalder C, et al. Long-term follow-up on restless legs syndrome patients treated with opioids. Mov Disord. 2001;16(6):1105-1109. https://pubmed.ncbi.nlm.nih.gov/11748743/

I. Iron / IV ferric carboxymaltose

  1. Cho YW, Allen RP, Earley CJ. Clinical efficacy of ferric carboxymaltose treatment in patients with restless legs syndrome. Sleep Med. 2016;25:16-23. https://pubmed.ncbi.nlm.nih.gov/27823704/
  2. Allen RP et al. Clinical efficacy and safety of IV ferric carboxymaltose (FCM) treatment of RLS: a multi-centred, placebo-controlled preliminary clinical trial. Sleep Med. 2011;12(9):906-913. https://pubmed.ncbi.nlm.nih.gov/21978723/
  3. Earley CJ et al. A randomized, double-blind, placebo-controlled trial of intravenous iron sucrose in restless legs syndrome. Sleep Med. 2009;10(2):206-211. https://pubmed.ncbi.nlm.nih.gov/18387339/

J. Augmentation / safety / impulse-control disorders

  1. Garcia-Borreguero D et al. Augmentation as a treatment complication of restless legs syndrome: concept and management. Mov Disord. 2007;22(Suppl 18):S476-S484. https://pubmed.ncbi.nlm.nih.gov/17580317/
  2. Garcia-Borreguero D et al. Guidelines for the first-line treatment of restless legs syndrome/Willis-Ekbom disease, prevention and treatment of dopaminergic augmentation: a combined task force of the IRLSSG, EURLSSG, and the RLS-foundation. Sleep Med. 2016;21:1-11. https://pubmed.ncbi.nlm.nih.gov/27448465/
  3. Silver N et al. A 10-year, longitudinal assessment of dopamine agonists and methadone in the treatment of restless legs syndrome. Sleep Med. 2011;12(5):440-444. https://pubmed.ncbi.nlm.nih.gov/21482186/
  4. Cornelius JR et al. Impulse control disorders with the use of dopaminergic agents in restless legs syndrome: a case-control study. Sleep. 2010;33(1):81-87. https://pubmed.ncbi.nlm.nih.gov/20120624/

K. Sleep / cardiovascular outcomes

  1. Winkelman JW et al. Periodic limb movements during sleep and cardiovascular disease: results from the Sleep Heart Health Study. J Sleep Res. 2018;27(2):298-303. https://pubmed.ncbi.nlm.nih.gov/28940738/
  2. Pennestri MH et al. Nocturnal blood pressure changes in patients with restless legs syndrome. Neurology. 2007;68(15):1213-1218. https://pubmed.ncbi.nlm.nih.gov/17420405/
  3. Li Y et al. Prospective study of restless legs syndrome and total and cardiovascular mortality among women. Neurology. 2018;90(2):e135-e141. https://pubmed.ncbi.nlm.nih.gov/29247074/

L. Guidelines / reviews

  1. Aurora RN et al. The treatment of restless legs syndrome and periodic limb movement disorder in adults — an update for 2012: practice parameters with an evidence-based systematic review and meta-analyses: an American Academy of Sleep Medicine Clinical Practice Guideline. Sleep. 2012;35(8):1039-1062. https://pubmed.ncbi.nlm.nih.gov/22851801/
  2. Winkelman JW et al. Practice guideline summary: Treatment of restless legs syndrome in adults: Report of the Guideline Development, Dissemination, and Implementation Subcommittee of the American Academy of Neurology. Neurology. 2016;87(24):2585-2593. https://pubmed.ncbi.nlm.nih.gov/27856776/
  3. Trotti LM, Becker LA. Iron for the treatment of restless legs syndrome. Cochrane Database Syst Rev. 2019;1:CD007834. https://pubmed.ncbi.nlm.nih.gov/30609006/

M. Pharmacokinetic primary sources

  1. Wright CE et al. The pharmacokinetics and pharmacodynamics of single doses of pramipexole. J Clin Pharmacol. 1997;37(6):520-525. https://pubmed.ncbi.nlm.nih.gov/9208360/
  2. Cawello W et al. Steady-state pharmacokinetics of rotigotine in patients with idiopathic restless legs syndrome. Clin Drug Investig. 2009;29(3):187-194. https://pubmed.ncbi.nlm.nih.gov/19243210/
  3. Cundy KC et al. Clinical pharmacokinetics of XP13512, a novel transported prodrug of gabapentin. J Clin Pharmacol. 2008;48(12):1378-1388. https://pubmed.ncbi.nlm.nih.gov/18827074/
  4. Bockbrader HN et al. A comparison of the pharmacokinetics and pharmacodynamics of pregabalin and gabapentin. Clin Pharmacokinet. 2010;49(10):661-669. https://pubmed.ncbi.nlm.nih.gov/20818832/

N. ESRD / pregnancy / special populations

  1. Gigli GL et al. Restless legs syndrome in end-stage renal disease. Sleep Med. 2004;5(3):309-315. https://pubmed.ncbi.nlm.nih.gov/15165542/
  2. Manconi M et al. Restless legs syndrome and pregnancy. Neurology. 2004;63(6):1065-1069. https://pubmed.ncbi.nlm.nih.gov/15452298/

Total: 53 primary or guideline references covering epidemiology, IRLSSG criteria, genetics, brain iron, dopaminergic and adenosinergic pathophysiology, α2δ and opioid pharmacology, augmentation, sleep/CV outcomes, and special populations.