Autosomal dominant restless legs syndrome maps on chromosome 14q

Brain

Volumn 126, Issue 6, 2003, Pages 1485-1492

  Bonati, Maria Teresa ^a   Ferini Strambi, Luigi ^b   Aridon, Paolo ^a   Oldani, Alessandro ^b   Zucconi, Marco ^b   Casari, Giorgio ^a  

^a SAN RAFFAELE HOSPITAL   (Italy)

^b VITA SALUTE SAN RAFFAELE UNIVERSITY   (Italy)

Author keywords

Gene identification; Linkage analysis; Restless legs syndrome; Sleep disorders

Indexed keywords

ADULT; AGED; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CHROMOSOME 14Q; CHROMOSOME MAP; CLINICAL ARTICLE; CONTROLLED STUDY; FEMALE; GENE LOCUS; GENETIC LINKAGE; HUMAN; INSOMNIA; ITALY; MALE; ONSET AGE; PARESTHESIA; PHENOTYPE; POLYSOMNOGRAPHY; PRIORITY JOURNAL; RESTLESS LEGS SYNDROME; SLEEP DEPRIVATION; SYMPTOM;

ADOLESCENT; ADULT; AGE OF ONSET; AGED; CHROMOSOMES, HUMAN, PAIR 14; DISEASE PROGRESSION; FEMALE; GENES, DOMINANT; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; LINKAGE (GENETICS); LOD SCORE; MALE; MIDDLE AGED; NOCTURNAL MYOCLONUS SYNDROME; PEDIGREE; POLYSOMNOGRAPHY; RESTLESS LEGS SYNDROME;

EID: 0038691989     PISSN: 00068950     EISSN: None     Source Type: Journal    
DOI: 10.1093/brain/awg137     Document Type: Article

References (41)

1. Allen RP, Earley CJ. Restless legs syndrome: a review of clinical and pathophysiologic features. J Clin Neurophysiol 2001; 18: 128-47.
2. Ambrosetto C, Lugaresi E, Coccagna G, Tassinari CA. Clinical and polygraphic remarks in the syndrome of restless legs. Riv Patol Nerv Ment 1965; 86: 244-52.
3. Atlas Task Force. Recording and scoring leg movements. Sleep 1993; 16: 748-59.
4. Boghen D, Peyronnard JM. Myoclonus in familial restless legs syndrome. Arch Neurol 1976; 33: 369-70.
5. Bornstein B. Restless legs. Psychiat Neurol (Basel) 1961; 141: 165-201.
6. Chokroverty S, Jankovic J. Restless legs syndrome: a disease in search of identity. Neurology 1999; 52: 907-10.
7. Coleman RM, Pollak CP, Weitzman ED. Periodic movements in sleep (nocturnal myoclonus): relation to sleep disorders. Ann Neurol 1980; 8: 416-21.
8. Desautels A, Turecki G, Montplaisir J, Sequeira A, Verner A, Rouleau GA. Identification of a major susceptibility locus for restless legs syndrome on chromosome 12q. Am J Hum Genet 2001; 69: 1266-70.
9. Dib C, Faure S, Fizames C, Samson D, Drouot N, Vignal A, et al. A comprehensive genetic map of the human genome based on 5,264 microsatellites. Nature 1996; 380: 152-4.
10. Dichgans M, Walther E, Collado-Seidel V, Trenkwalder C, Müller-Myhsok B, Oertel W, et al. Autosomal dominant restless legs syndrome: genetic model and evaluation of 22 candidate genes [abstract]. Mov Disord 1996; 11 Suppl 1: 87.
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. Ekbom KA. Restless legs syndrome. Neurology 1960; 10: 868-73.
13. Hening WA, Walters AS, Rosen R, LeBroca C, Hirsch L, Dhar A, et al. The International RLS study group rating scale: a reliable and valid instrument for assessing severity of the restless legs syndrome [abstract]. Neurology 2001; 56 (8 Suppl 3): A4.
14. Jacobsen JH, Rosenberg RS, Huttenlocher PR, Spire JP. Familial nocturnal cramping. Sleep 1986; 9: 54-60.
15. Kent WJ, Sugnet CW, Furey TS, Roskin KM, Pringle TH, Zahler AM, et al. The human genome browser at UCSC. Genome Res 2002; 12: 996-1006.
16. Kock N, Culjkovic B, Maniak S, Schilling K, Muller B, Zuhlke C, et al. Mode of inheritance and susceptibility locus for restless legs syndrome, on chromosome 12q. Am J Hum Genet 2002; 71: 205-8; author reply 208.
17. Kruglyak L, Lander ES. Faster multipoint linkage analysis using Fourier transforms. J Comput Biol 1998; 5: 1-7.
18. Larner AJ, Allen CM. Hereditary essential tremor and restless legs syndrome. Postgrad Med J 1997; 73: 254.
19. Lathrop GM, Lalouel JM, Julier C, Ott J. Multilocus linkage analysis in humans: detection of linkage and estimation of recombination. Am J Hum Genet 1985; 37: 482-98.
20. Lavigne GJ, Montplaisir JY. Restless legs syndrome and sleep bruxism: prevalence and association among Canadians. Sleep 1994; 17: 739-43.
21. Lazzarini A, Walters AS, Hickey K, Coccagna G, Lugaresi E, Ehrenberg BL, et al. Studies of penetrance and anticipation in five autosomal-dominant restless legs syndrome pedigrees. Mov Disord 1999; 14: 111-6.
22. Montagna P, Coccagna G, Ciriguotta F, Luganesi E. Familial restless legs syndrome. In: Guilleminault C, Lugaresi E, editors. Sleep/wake diosorders: natural history, epidemiology, and long-term evolution. New York: Raven Press; 1983. p. 231-5.
23. Montplaisir J, Godbout R, Boghen D, De Champlain J, Young SN, Lapierre G. Familial restless legs with periodic movements in sleep: electrophysiologic, biochemical, and pharmacologic study. Neurology 1985; 35: 130-4.
24. Montplaisir J, Godbout R, Pelletier G, Warnes, H. Restless legs syndrome and periodic movements during sleep. In: Kryger MH, Roth T, Dement WC, editors. Principles and practice of sleep medicine. 2nd ed. Philedelphia: Saunders; 1994. p. 589-97.
25. Montplaisir J, Boucher S, Poirier G, Lavigne G, Lapierre O, Lesperance P. Clinical, polysomnographic, and genetic characteristics of restless legs syndrome: a study of 133 patients diagnosed with new standard criteria. Mov Disord 1997; 12: 61-5.
26. Ondo WG, Vuong KD, Wang Q. Restless legs syndrome in monozygotic twins: clinical correlates. Neurology 2000; 55: 1404-6.
27. Phillips B, Young T, Finn L, Asher K, Hening WA, Purvis C. Epidemiology of restless legs symptoms in adults. Arch Intern Med 2000; 160: 2137-41.
28. Picchietti DL, Underwood DJ, Farris WA, Walters AS, Shah MM, Dahl RE, et al. Further studies on periodic limb movement disorder and restless legs syndrome in children with attention-deficit hyperactivity disorder. Mov Disord 1999; 14: 1000-7.
29. 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.
30. Sambrook J, Fritsh EF, Maniatis T. Molecular cloning: A laboratory manual. 2nd ed. Cold Spring Harbor (NY): Cold Spring Harbor Laboratory Press; 1989.
31. Strang RR. The symptom of restless legs. Med J Aust 1967; 1: 1211-3.
32. Sun ER, Chen CA, Ho G, Earley CJ, Allen RP. Iron and the restless legs syndrome. Sleep 1998; 21: 371-7.
33. Trenkwalder C, Seidel VC, Gasser T, Oertel WH. Clinical symptoms and possible anticipation in a large kindred of familial restless legs syndrome. Mov Disord 1996; 11: 389-94.
34. vanAlfen N, Sinke RJ, Zwarts MJ, Gabreels-Festen A, Praamstra P, Kremer BP, et al. Intermediate CAG repeat lengths (53,54) for MJD/SCA3 are associated with an abnormal phenotype. Ann Neurol 2001; 49: 805-7.
35. Walters AS. Toward a better definition of the restless legs syndrome. The International Restless Legs Syndrome Study Group. Mov Disord 1995; 10: 634-42.
36. Walters AS, Picchietti D, Hening W, Lazzarini A. Variable expressivity in familial restless legs syndrome. Arch Neurol 1990; 47: 1219-20.
37. Walters AS, Picchietti DL, Ehrenberg BL, Wagner ML. Restless legs syndrome in childhood and adolescence. Pediatr Neurol 1994; 11: 241-5.
38. Walters AS, Hickey K, Maltzman J, Verrico T, Joseph D, Hening W, et al. A questionnaire study of 138 patients with restless legs syndrome: the 'Night-Walkers' survey. Neurology 1996; 46: 92-5.
39. Walters AS, Hening W, Allen RP, Group TIRLSS. Validation of the International Restless Legs Syndrome Study Group Rating Scale for Restless Legs Syndrome. Sleep Med. 2003; DOI: 10.1016/S1389-9457(02)00258-7.
40. Winkelmann J, Wetter TC, Collado-Seidel V, Gasser T, Dichgans M, Yassouridis A, et al. Clinical characteristics and frequency of the hereditary restless legs syndrome in a population of 300 patients. Sleep 2000; 23: 597-602.
41. Winkelmann J, Muller-Myhsok B, Wittchen HU, Hock B, Prager M, Pfister H, et al. Complex segregation analysis of restless legs syndrome provides evidence for an autosomal dominant mode of inheritance in early age at onset families. Ann Neurol 2002; 52: 297-302.