A novel locus for restless legs syndrome maps to chromosome 19p in an Irish pedigree

Neurogenetics

Volumn 13, Issue 2, 2012, Pages 125-132

  Skehan, Evelyn B ^a   Abdulrahim, Manal M A ^a   Parfrey, Nollaig A ^a   Hand, Collette K ^a  

^a UNIVERSITY COLLEGE CORK   (Ireland)

Author keywords

Genome wide search; Linkage analysis; Locus; Movement disorder; Restless legs syndrome; RLS

Indexed keywords

ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CHROMOSOME 19P; CHROMOSOME MAP; CLINICAL ARTICLE; FEMALE; GENE LOCUS; GENETIC ASSOCIATION; GENETIC LINKAGE; GENETIC RECOMBINATION; HAPLOTYPE; HUMAN; IRELAND; MALE; MICROSATELLITE MARKER; PEDIGREE ANALYSIS; PRIORITY JOURNAL; RESTLESS LEGS SYNDROME; SCORING SYSTEM;

ADULT; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 19; GENETIC LINKAGE; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HAPLOTYPES; HUMANS; LOD SCORE; MALE; MICROSATELLITE REPEATS; MIDDLE AGED; PEDIGREE; RESTLESS LEGS SYNDROME;

EID: 84862692068     PISSN: 13646745     EISSN: 13646753     Source Type: Journal    
DOI: 10.1007/s10048-012-0317-x     Document Type: Article

References (44)

1. Hening WA, Walters AS, Wagner M, Rosen R, Chen V, Kim S, Shah M, Thai O (1999) Circadian rhythm of motor restlessness and sensory symptoms in the idiopathic restless legs syndrome. Sleep 22:901-912
2. Phillips B, Young T, Finn L, Asher K, Hening WA, Purvis C (2000) Epidemiology of restless legs symptoms in adults. Arch Intern Med 160:2137-2141
3. Allen RP, Walters AS, Montplaisir J, Hening W, Myers A, Bell TJ, Ferini-Strambi L (2005) Restless legs syndrome prevalence and impact: REST general population study. Arch Intern Med 165:1286-1292
4. Rothdach AJ, Trenkwalder C, Haberstock J, Keil U, Berger K (2000) Prevalence and risk factors of RLS in an elderly population: the MEMO study. Memory and Morbidity in Augsburg Elderly. Neurology 54:1064-1068
5. Hogl B, Kiechl S, Willeit J, Saletu M, Frauscher B, Seppi K, Muller J, Rungger G, Gasperi A, Wenning G, Poewe W (2005) Restless legs syndrome: a community-based study of prevalence, severity, and risk factors. Neurology 64:1920-1924
6. 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
7. Walters AS, LeBrocq C, Dhar A, Hening W, Rosen R, Allen RP, Trenkwalder C (2003) Validation of the International Restless Legs Syndrome Study Group rating scale for restless legs syndrome. Sleep Med 4:121-132
8. Wetter TC, Winkelmann J, Eisensehr I (2003) Current treatment options for restless legs syndrome. Expert Opin Pharmacother 4:1727-1738
9. Stiasny-Kolster K, Trenkwalder C, Fogel W, Greulich W, Hahne M, Lachenmayer L, Oechsner M, Oertel WH (2004) Restless legs syndrome-new insights into clinical characteristics, pathophysiology, and treatment options. J Neurol 251(Suppl 6):VI/39-VI/43
10. Earley CJ, Barker PB, Horská A, Allen RP (2006) MRI-determined regional brain iron concentrations in early- and lateonset restless legs syndrome. Sleep Med 7:458-461
11. Oertel WH, Benes H, Bodenschatz R, Peglau I, Warmuth R, Happe S, Geisler P, Cassel W, Leroux M, Kohnen R, Stiasny-Kolster K (2006) Efficacy of cabergoline in restless legs syndrome: a placebo-controlled study with polysomnography (CATOR). Neurology 67:1040-1046
12. Allen R (2004) Dopamine and iron in the pathophysiology of restless legs syndrome (RLS). Sleep Med 5:385-391
13. Ekbom KA (1960) Restless legs syndrome. Neurology 10:868-873
14. Desautels A, Turecki G, Montplaisir J, Sequeira A, Verner A, Rouleau G (2001) Identification of a major susceptibility locus for restless legs syndrome on chromosome 12q. Am J Hum Genet 69:1266-1270
15. Bonati MT, Ferini-Strambi L, Aridon P, Oldani A, Zucconi M, Casari G (2003) Autosomal dominant restless legs syndrome maps on chromosome 14q. Brain 126:1485-1492
16. Chen S, Ondo WG, Rao S, Li L, Chen Q, Wang Q (2004) Genomewide linkage scan identifies a novel susceptibility locus for restless legs syndrome on chromosome 9p. Am J Hum Genet 74:876-885
17. Levchenko A, Provost S, Montplaisir JY, Xiong L, St-Onge J, Thibodeau P, Riviere JB, Desautels A, Turecki G, Dube MP, Rouleau GA (2006) A novel autosomal dominant restless legs syndrome locus maps to chromosome 20p13. Neurology 67:900-901
18. Pichler I, Marroni F, Beu Volpato C, Gusella JF, Klein C, Casari G, De Grandi A, Pramstaller PP (2006) Linkage analysis identifies a novel locus for restless legs syndrome on chromosome 2q in a south Tyrolean population isolate. Am J Hum Genet 79:716-723
19. Winkelmann J, Lichtner P, Kemlink D, Polo O, Montagna P, Hogl B, Stiasny-Kolster K, Hadjigeorgiou GM, Pütz B, Trenkwalder C, Meitinger T, Muller-Myhsok B (2006) New loci for restless legs syndrome map to chromosome 4q and 17p. Mov Disord 21:304
20. Kemlink D, Plazzi G, Vetrugno R, Provini F, Polo O, Stiasny-Kolster K, Oertel W, Nevsimalova S, Sonka K, Hogl B, Frauscher B, Hadjigeorgiou GM, Pramstaller PP, Lichtner P, Meitinger T, Muller-Myshok B, Winkelmann J, Montagna P (2008) Suggestive evidence for linkage for restless legs syndrome on chromosome 19p13. Neurogenetics 9:75-82
21. Levchenko A, Montplaisir J-Y, Asselin G, Provost S, Girard SL, Xiong L, Lemyre E, St-Onge J, Thibodeau P, Desautels A, Turecki G, Gaspar C, Dubé M-P, Rouleau GA (2009) Autosomal-dominant locus for restless legs syndrome in French-Canadians on chromosome 16p12.1. Mov Disord 24:40-50
22. 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
23. Winkelmann J, Lichtner P, Putz B, Trenkwalder C, Hauk S, Meitinger T, Strom T, Muller-Myhsok B (2006) Evidence for further genetic locus heterogeneity and confirmation of RLS-1 in restless legs syndrome. Mov Disord 21:28-33
24. Winkelmann J, Schormair B, Lichtner P, Ripke S, Xiong L, Jalilzadeh S, Fulda S, Putz 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, Muller-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
25. 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
26. 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, Hogl B, Frauscher B, Gschliesser V, Poewe W, Peglau I, Vodicka P, Vavrova J, Sonka K, Nevsimalova S, Montplaisir J, Turecki G, Rouleau G, Gieger C, Illig T, Wichmann HE, Holsboer F, Muller-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
27. Winkelmann J, Lichtner P, Schormair B, Uhr M, Hauk S, Stiasny-Kolster K, Trenkwalder C, Paulus W, Peglau I, Eisensehr I, Illig T, Wichmann HE, Pfister H, Golic J, Bettecken T, Putz B, Holsboer F, Meitinger T, Muller-Myhsok B (2008) Variants in the neuronal nitric oxide synthase (nNOS, NOS1) gene are associated with restless legs syndrome. Mov Disord 23:350-358
28. Weeks DE, Ott J, Lathrop GM (1990) SLINK: a general simulation program for linkage analysis. Am J Hum Genet 47:A204
29. Hamet P, Tremblay J (2006) Genetics of the sleep-wake cycle and its disorders. Metabolism 55. Supplement 2:S7-S12
30. Ondo WG, Vuong KD, Wang Q (2000) Restless legs syndrome in monozygotic twins: clinical correlates. Neurology 55:1404-1406
31. Tan EK (2006) Restless legs syndrome and Parkinson's disease: is there an etiologic link? J Neurol 253(Suppl 7):VII33-VII37
32. Mizuno S, Miyaoka T, Inagaki T, Horiguchi J (2005) Prevalence of restless legs syndrome in non-institutionalized Japanese elderly. Psychiatry Clin Neurosci 59:461-465
33. Sevim S, Dogu O, Camdeviren H, Bugdayci R, Sasmaz T, Kaleagasi H, Aral M, Helvaci I (2003) Unexpectedly low prevalence and unusual characteristics of RLS in Mersin, Turkey. Neurology 61:1562-1569
34. Winkelmann J (2008) Genetics of restless legs syndrome. Curr Neurol Neurosci Rep 8:211-216
35. Winkelmann J, Muller-Myhsok B, Wittchen HU, Hock B, Prager M, Pfister H, Strohle A, Eisensehr I, Dichgans M, Gasser T, Trenkwalder C (2002) Complex segregation analysis of restless legs syndrome provides evidence for an autosomal dominant mode of inheritance in early age at onset families. Ann Neurol 52:297-302
36. Mathias RA, Hening W, Washburn M, Allen RP, Lesage S, Wilson AF, Earley CJ (2006) Segregation analysis of restless legs syndrome: possible evidence for a major gene in a family study using blinded diagnoses. Hum Hered 62:157-164
37. Hening W, Walters AS, Allen RP, Montplaisir J, Myers A, Ferini-Strambi L (2004) 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 5:237-246
38. Garcia-Borreguero D, Odin P, Schwarz C (2004) Restless legs syndrome: an overview of the current understanding and management. Acta Neurol Scand 109:303-317
39. Desautels A, Turecki G, Montplaisir J, Ftouhi-Paquin N, Michaud M, Chouinard VA, Rouleau GA (2001) Dopaminergic neurotransmission and restless legs syndrome: a genetic association analysis. Neurology 57:1304-1306
40. Allen RP, Barker PB, Wehrl F, Song HK, Earley CJ (2001) MRI measurement of brain iron in patients with restless legs syndrome. Neurology 56:263-265
41. Sun ER, Chen CA, Ho G, Earley CJ, Allen RP (1998) Iron and the restless legs syndrome. Sleep 21:371-377
42. Manconi M, Govoni V, De Vito A, Tiberio Economou N, Cesnik E, Mollica G, Granieri E (2004) Pregnancy as a risk factor for restless legs syndrome. Sleep Med 5:305-308
43. Enomoto M, Inoue Y, Namba K, Munezawa T, Matsuura M (2008) Clinical characteristics of restless legs syndrome in end-stage renal failure and idiopathic RLS patients. Mov Disord 23:811-816
44. Grimwood J, Gordon LA, Olsen A, Terry A, Schmutz J, Lamerdin J, Hellsten U, Goodstein D, Couronne O, Tran-Gyamfi M, Aerts A, Altherr M, Ashworth L, Bajorek E, Black S, Branscomb E, Caenepeel S, Carrano A, Caoile C, Man Chan Y, Christensen M, Cleland CA, Copeland A, Dalin E, Dehal P, Denys M, Detter JC, Escobar J, Flowers D, Fotopulos D, Garcia C, Georgescu AM, Glavina T, Gomez M, Gonzales E, Groza M, Hammon N, Hawkins T, Haydu L, Ho I, Huang W, Israni S, Jett J, Kadner K, Kimball H, Kobayashi A, Larionov V, Leem S-H, Lopez F, Lou Y, Lowry S, Malfatti S, Martinez D, McCready P, Medina C, Morgan J, Nelson K, Nolan M, Ovcharenko I, Pitluck S, PollardM, PopkieAP, Predki P, Quan G, Ramirez L, Rash S, Retterer J, Rodriguez A, Rogers S, Salamov A, Salazar A, She X, Smith D, Slezak T, Solovyev V, Thayer N, Tice H, TsaiM, Ustaszewska A, Vo N, Wagner M, Wheeler J, Wu K, Xie G, Yang J, Dubchak I, Furey TS, DeJong P, Dickson M, Gordon D, Eichler EE, Pennacchio LA, Richardson P, Stubbs L, Rokhsar DS, Myers RM, Rubin EM, Lucas SM (2004) The DNA sequence and biology of human chromosome 19. Nature 428:529-535