An update on the pathophysiology and genetics of restless legs syndrome

Current Neurology and Neuroscience Reports

Volumn 8, Issue 4, 2008, Pages 281-287

  Trotti, Lynn Marie ^b   Bhadriraju, Srinivas ^b   Rye, David B ^a  

^a EMORY UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

AMINE OXIDASE (FLAVIN CONTAINING) ISOENZYME A; BENZODIAZEPINE DERIVATIVE; CARBAMAZEPINE; CLONIDINE; DOPA DECARBOXYLASE INHIBITOR; DOPAMINE 2 RECEPTOR; DOPAMINE RECEPTOR STIMULATING AGENT; GABAPENTIN; IRON; LEVODOPA; MAGNESIUM; METOCLOPRAMIDE; NEUROLEPTIC AGENT; OPIATE DERIVATIVE; PERGOLIDE; PRAMIPEXOLE; PREGABALIN; PROCHLORPERAZINE; PROTEIN BTBD9; ROPINIROLE; ROTIGOTINE; TRAMADOL; TRANSCRIPTION FACTOR; UNCLASSIFIED DRUG; BTBD9 PROTEIN, HUMAN; DOPAMINE;

ARTICLE; CARDIOVASCULAR DISEASE; CENTRAL NERVOUS SYSTEM; CLINICAL TRIAL; DIZZINESS; DRUG INDUCED HEADACHE; DRUG WITHDRAWAL; ETHNIC DIFFERENCE; GENETIC ASSOCIATION; GENETIC POLYMORPHISM; GENETIC VARIABILITY; HIGH RISK POPULATION; HUMAN; IRON DEFICIENCY; IRON STORAGE; MOLECULAR GENETICS; MORBIDITY; NAUSEA; NEUROPATHOLOGY; NONHUMAN; PATHOLOGICAL GAMBLING; PERIPHERAL EDEMA; PREVALENCE; RESTLESS LEGS SYNDROME; RHINITIS; SENSORIMOTOR FUNCTION; SEXUAL BEHAVIOR; SIDE EFFECT; SOMNOLENCE; VALVULAR HEART DISEASE; CHROMOSOME 6; GENETICS; METABOLISM; PATHOPHYSIOLOGY; REVIEW;

CHROMOSOMES, HUMAN, PAIR 6; DOPAMINE; HUMANS; RESTLESS LEGS SYNDROME; TRANSCRIPTION FACTORS;

EID: 53449084359     PISSN: 15284042     EISSN: None     Source Type: Journal    
DOI: 10.1007/s11910-008-0044-8     Document Type: Article

References (50)

1. Stefansson H, Rye DB, Hicks A, et al.: A genetic risk factor for periodic limb movements in sleep. N Engl J Med 2007, 357:639-647.
2. Allen RP, Walters AS, Montplaisir J, et al.: Restless legs syndrome prevalence and impact: REST general population study. Arch Intern Med 2005, 165:1286-1292.
3. O'Keeffe ST, Egan D, Myers A, Redmond S: The frequency and impact of restless legs syndrome in primary care. Ir Med J 2007, 100:539-542.
4. Winkelman JW, Finn L, Young T: Prevalence and correlates of restless legs syndrome symptoms in the Wisconsin Sleep Cohort. Sleep Med 2006, 7:545-552.
5. Picchietti D, Allen RP, Walters AS, et al.: Restless legs syndrome: prevalence and impact in children and adolescents - the Peds REST study. Pediatrics 2007, 120:253-266.
6. Nichols DA, Allen RP, Grauke JH, et al.: Restless legs syndrome symptoms in primary care: A prevalence study. Arch Intern Med 2003, 163:2323-2329.
7. Earley CJ, Allen RP, Beard JL, et al.: Insight into the pathophysiology of restless legs syndrome. J Neurosci Res 2000, 62:623-628.
8. Winkelman J, Chertow G, Lazarus J: Restless legs syndrome in end-stage renal disease. Am J Kidney Dis 1996, 28:372-378.
9. Hening WA, CaivanoACK: Restless legs syndrome: a common disorder in patients with rheumatologic conditions. Semin Arthritis Rheum 2007 Oct 29 (Epub ahead of print).
10. Merlino G, Fratticci L, Valente M, et al.: Association of restless legs syndrome in Type 2 diabetes. Sleep 2007, 30:866-871.
11. Gomez-Esteban JC, Zarranz JJ, Tijero B, et al.: Restless legs syndrome in Parkinson's disease. Mov Disord 2007, 22:1912-1916.
12. Trotti LM, Rye DB: Functional anatomy and treatment of RLS/PLMS emerging after spinal cord lesions [abstract]. Sleep 2007, 30:A306.
13. Gemignani F, Marbini A, Di Giovanni G, et al.: Charcot-Marie-Tooth disease type 2 with restless legs syndrome. Neurology 1999, 52:1064-1066.
14. Abele M, Burk K, Laccone F, et al.: Restless legs syndrome in spinocerebellar ataxia types 1, 2, and 3. J Neurol 2001, 248:311-314.
15. Manconi M, Fabbrini M, Bonanni E, et al.: High prevalence of restless legs syndrome in multiple sclerosis. Eur J Neurol 2007, 14:534-539.
16. Akpinar S: Restless legs syndrome treatment with dopaminergic drugs. Clin Neuropharmacol 1987, 10:69-79.
17. Connor JR, Boyer PJ, Menzies SL, et al.: Neuropathological examination suggests impaired brain iron acquisition in restless legs syndrome. Neurology 2003, 61:304-309.
18. Wetter TC, Eisensehr I, Trenkwalder C: Functional neuroimaging studies in restless legs syndrome. Sleep Med 2004, 5:401-406.
19. Godau J, Wevers AK, Gaenslen A, et al.: Sonographic abnormalities of brainstem structures in restless legs syndrome. Sleep Med 2007 Nov 15 (Epub ahead of print).
20. Schmidauer C, Sojer M, Seppi K, et al.: Transcranial ultrasound shows nigral hypoechogenicity in restless legs syndrome. Ann Neurol 2005, 58:630-634.
21. Winkelmann J, Polo O, Provini F, et al.: Genetics of restless legs syndrome (RLS): State-of-the-art and future directions. Mov Disord 2007, 22:S449-S458.
22. Desautels A, Turecki G, Montplaisir J, et al.: Evidence for a genetic association between monoamine oxidase A and restless legs syndrome. Neurology 2002, 59:215-219.
23. Rye DB, Freeman AA: Dopamine in behavioral state control. In Neurochemistry of Sleep and Wakefulness. Edited by Monti JM, Pandi-Perumal SR, Sinton CM. Cambridge: Cambridge University Press; 2008:79-221.
24. Garcia-Borreguero D, Larrosa D, Granizo JJ, et al.: Circadian variation in neuroendocrine response to 1-dopa in patients with restless legs syndrome. Sleep 2004, 27:669-673.
25. Happe S, Bachmann CG, Helmschmied K, et al.: Growth hormone response to low-dose apomorphine in restless legs syndrome. Growth Horm IGF Res 2007, 17:323-327.
26. Earley CJ, Hyland K, Allen RP: Circadian changes in CSF dopaminergic measures in restless legs syndrome. Sleep Med 2006, 7:263-268.
27. Clemens S, Rye DB,RHochmann S: Restless legs syndrome: revisiting the dopamine hypothesis from the spinal cord perspective. Neurology 2006, 67:125-130.
28. Bara-Jimenez W, Aksu M, Graham B, et al.: Periodic limb movements in sleep: State-dependent excitability of the spinal flexor reflex. Neurology 2000, 54:1609-1616.
29. Hogl B, Frauscher B, Seppi K, et al.: Transient restless legs syndrome after spinal anesthesia. Neurology 2002, 59:1705-1707.
30. Qu S, Le W, Zhang X, et al.: Locomotion is increased in A11-lesioned mice with iron deprivations: A possible animal model for restless legs syndrome. J Neuropathol Exp Neurol 2007, 66:383-388.
31. Trenkwalder C, Hogl B, Benes H, Kohnen R: Augmentation in restless legs syndrome is associated with low ferritin. Sleep Med 2007 Oct 5 (Epub ahead of print).
32. Erikson KM, Jones BC, Hess EJ, et al.: Iron deficiency decreases dopamine D1 and D2 receptors in the rat brain. Pharmacol Biochem Behav 2001, 69:409-418.
33. Desai AV, Cherkas LF, Spector TD, Williams AJ: Genetic influences in self-reported symptoms of obstructive sleep apnoea and restless legs: A twin study. Twin Res 2004, 7:589-595.
34. Ondo WG, Vuong KD, Wang Q: Restless legs syndrome in monozygotic twins: clinical correlates. Neurology 2000, 55:1404-1406.
35. Chen S, Ondo WG, Rao S, et al.: Genomewide linkage scan identifies a novel susceptibility locus for restless legs syndrome on chromosome 9p. Am J Hum Genet 2004, 74:876-885.
36. Pichler I, Hicks AA, Pramstaller PP: Restless legs syndrome: an update on genetics and future perspectives. Clin Genet 2008, 73:297-305
37. Winkelmann J, Schormair B, Lichtner P, et al.: Genome-wide association study of restless legs syndrome identifies common variants in three genomic regions. Nat Genet 2007, 39:1000-1006.
38. Winkelman JW: Periodic limb movements in sleep - endophenotype for restless legs syndrome? N Engl J Med 2007, 357:703-705.
39. Kushida C, Martin M, Nikam P, et al.: Burden of restless legs syndrome on health-related quality of life. Qual Life Res 2007, 16:617-624.
40. Benz RL, Pressman MR, Hovick ET, Peterson DD: Potential novel predictors of mortality in end-stage renal disease patients with sleep disorders. Am J Kidney Dis 2000, 35:1221-1223.
41. Winkelman JW, Shahar E, Sharief I, Gottlieb DJ.: Association of restless legs syndrome and cardiovascular disease in the Sleep Heart Health Study. Neurology 2008, 70:35-42.
42. Billars L, Hicks A, Bliwise D, et al.: Hypertension risk and PLMS in restless legs syndrome [abstract]. Sleep 2007, 30:A297-A298.
43. Littner MR, Kushida C, Anderson WM, et al.: Practice parameters for the dopaminergic treatment of restless legs syndrome and periodic limb movement disorder. Sleep 2004, 27:557-559.
44. Happe S, Trenkwalder C: Role of dopamine receptor agonists in the treatment of restless legs syndrome. CNS Drugs 2004, 18:27-36.
45. Driver-Dunckley ED, Noble BN, Hentz JG, et al.: Gambling and increased sexual desire with dopaminergic medications in restless legs syndrome. Clin Neuropharmacol 2007, 30:249-255.
46. Garcia-Borreguero D, Allen RP, Kohnen R, et al.: Diagnostic standards for dopaminergic augmentation of restless legs syndrome. Sleep Med 2007, 8:520-530.
47. Earley CJ, Allen RP: Restless legs syndrome augmentation associated with tramadol. Sleep Med 2006, 7:592-593.
48. Garcia-Borreguero D, Allen RP, Benes H, et al.: Augmentation as a treatment complication of restless legs syndrome: Concept and management. Mov Disord 2007, 22(Suppl 18):S476-S484.
49. Bartell S, Zallek S: Intravenous magnesium sulfate may relieve restless legs syndrome in pregnancy. J Clin Sleep Med 2006, 2:187-188.
50. Pennestri MH, Montplaisir J, Colombo R, et al.: Nocturnal blood pressure changes in patients with restless legs syndrome. Neurology 2007, 68:1213-1218.