Autosomal dominant restless legs syndrome maps to chromosome 20p13 (RLS-5) in a Dutch kindred

Movement Disorders

Volumn 25, Issue 11, 2010, Pages 1715-1722

  Sas, Antonetta M G ^a   Di Fonzo, Alessio ^a,b   Bakker, Stef L M ^c   Simons, Erik J ^a   Oostra, Ben A ^a   Maat Kievit, Anneke J ^a   Boon, Agnita J W ^a   Bonifati, Vincenzo ^a  

^a ERASMUS MEDICAL CENTER   (Netherlands)

^b UNIVERSITY OF MILAN   (Italy)

^c Sint Franciscus General Hospital   (Netherlands)

Author keywords

Genetics; Linkage mapping; Restless legs syndrome; RLS; RLS 5

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CHILD; CHROMOSOME 20P; CLINICAL ARTICLE; FEMALE; FOLLOW UP; GENE LOCUS; GENE MAPPING; GENE MUTATION; GENETIC ANALYSIS; GENETIC LINKAGE; HAPLOTYPE; HUMAN; MALE; PRESCHOOL CHILD; PRIORITY JOURNAL; RESTLESS LEGS SYNDROME; SCHOOL CHILD; SINGLE NUCLEOTIDE POLYMORPHISM;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; CHILD; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 20; FEMALE; GENE EXPRESSION PROFILING; GENETIC PREDISPOSITION TO DISEASE; GENOME-WIDE ASSOCIATION STUDY; HUMANS; LOD SCORE; MALE; MIDDLE AGED; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; PEDIGREE; RESTLESS LEGS SYNDROME; YOUNG ADULT;

EID: 77955789208     PISSN: 08853185     EISSN: 15318257     Source Type: Journal    
DOI: 10.1002/mds.23248     Document Type: Article

References (34)

1. Trenkwalder C, Hogl B, Winkelmann J. Recent advances in the diagnosis, genetics and treatment of restless legs syndrome. J Neurol 2009;256:539-553.
2. Allen RP, Picchietti D, Hening WA, 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;4:101-119.
3. Benes H, Walters AS, Allen RP, Hening WA, Kohnen R. Definition of restless legs syndrome, how to diagnose it, and how to differentiate it from RLS mimics. Mov Disord 2007;22(suppl 18):S401-S408.
4. Hening WA, Allen RP, Washburn M, Lesage SR, Earley CJ. The four diagnostic criteria for restless legs syndrome are unable to exclude confounding conditions ("mimics"). Sleep Med 2009;10:976-981.
5. Winkelmann J. Genetics of restless legs syndrome. Curr Neurol Neurosci Rep 2008;8:211-216.
6. 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;69:1266-1270.
7. Bonati MT, Ferini-Strambi L, Aridon P, Oldani A, Zucconi M, Casari G. Autosomal dominant restless legs syndrome maps on chromosome 14q. Brain 2003;126(Pt 6):1485-1492.
8. Chen S, Ondo WG, Rao S, Li L, Chen Q, Wang Q. Genomewide linkage scan identifies a novel susceptibility locus for restless legs syndrome on chromosome 9p. Am J Hum Genet 2004;74: 876-885. (Pubitemid 38568962)
9. Pichler I, Marroni F, Volpato CB, et al. Linkage analysis identifies a novel locus for restless legs syndrome on chromosome 2q in a South Tyrolean population isolate. Am J Hum Genet 2006; 79:716-723.
10. Levchenko A, Provost S, Montplaisir JY, et al. A novel autosomal dominant restless legs syndrome locus maps to chromosome 20p13. Neurology 2006;67:900-901.
11. Levchenko A, Montplaisir JY, Asselin G, et al. Autosomal-dominant locus for restless legs syndrome in French-Canadians on chromosome 16p12.1. Mov Disord 2009;24:40-50.
12. Kemlink D, Plazzi G, Vetrugno R, et al. Suggestive evidence for linkage for restless legs syndrome on chromosome 19p13. Neuro-genetics 2008;9:75-82.
13. 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.
14. 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.
15. Schormair B, Kemlink D, Roeske D, et al. PTPRD (protein tyrosine phosphatase receptor type delta) is associated with restless legs syndrome. Nat Genet 2008;40:946-948.
16. Desautels A, Turecki G, Montplaisir J, et al. Restless legs syndrome: confirmation of linkage to chromosome 12q, genetic heterogeneity, and evidence of complexity. Arch Neurol 2005;62: 591-596.
17. Winkelmann J, Lichtner P, Putz B, et al. Evidence for further genetic locus heterogeneity and confirmation of RLS-1 in restless legs syndrome. Mov Disord 2006;21:28-33.
18. Levchenko A, Montplaisir JY, Dube MP, et al. The 14q restless legs syndrome locus in the French Canadian population. Ann Neurol 2004;55:887-891.
19. Kemlink D, Polo O, Montagna P, et al. Family-based association study of the restless legs syndrome loci 2 and 3 in a European population. Mov Disord 2007;22:207-212.
20. Liebetanz KM, Winkelmann J, Trenkwalder C, et al. RLS3: fine-mapping of an autosomal dominant locus in a family with intrafamilial heterogeneity. Neurology 2006;67:320-321.
21. Lohmann-Hedrich K, Neumann A, Kleensang A, et al. Evidence for linkage of restless legs syndrome to chromosome 9p: are there two distinct loci? Neurology 2008;70:686-694.
22. Walters AS, LeBrocq C, Dhar A, et al. Validation of the International Restless Legs Syndrome Study Group rating scale for restless legs syndrome. Sleep Med 2003;4:121-132.
23. Gudbjartsson DF, Thorvaldsson T, Kong A, Gunnarsson G, Ingolfsdottir A. Allegro version 2. Nat Genet 2005;37:1015-1016.
24. Hoffmann K, Lindner TH. easyLINKAGE-Plus - automated linkage analyses using large-scale SNP data. Bioinformatics 2005;21: 3565-3567.
25. Benson G. Tandem repeats finder: a program to analyze DNA sequences. Nucleic Acids Res 1999;27:573-580.
26. O'Connell JR, Weeks DE. PedCheck: a program for identification of genotype incompatibilities in linkage analysis. Am J Hum Genet 1998;63:259-266.
27. Lander E, Kruglyak L. Genetic dissection of complex traits: guidelines for interpreting and reporting linkage results. Nat Genet 1995;11:241-247.
28. Koroll M, Rathjen FG, Volkmer H. The neural cell recognition molecule neurofascin interacts with syntenin-1 but not with syntenin- 2, both of which reveal self-associating activity. J Biol Chem 2001;276:10646-10654.
29. Das S, Gerwin C, Sheng ZH. Syntaphilin binds to dynamin-1 and inhibits dynamin-dependent endocytosis. J Biol Chem 2003;278:41221-41226.
30. Wendholt D, Spilker C, Schmitt A, et al. ProSAP-interacting protein 1 (ProSAPiP1), a novel protein of the postsynaptic density that links the spine-associated Rap-Gap (SPAR) to the scaffolding protein ProSAP2/Shank3. J Biol Chem 2006;281:13805-13816.
31. Nakanishi K, Ida M, Suzuki H, et al. Molecular characterization of a transport vesicle protein neurensin-2, a homologue of neurensin- 1, expressed in neural cells. Brain Res 2006;1081:1-8.
32. Gregory A, Polster BJ, Hayflick SJ. Clinical and genetic delineation of neurodegeneration with brain iron accumulation. J Med Genet 2009;46:73-80.
33. Soriano FX, Baxter P, Murray LM, Sporn MB, Gillingwater TH, Hardingham GE. Transcriptional regulation of the AP-1 and Nrf2 target gene sulfiredoxin. Mol Cells 2009;27:279-282.
34. Bodrikov V, Leshchyns'ka I, Sytnyk V, Overvoorde J, den Hertog J, Schachner M. RPTPalpha is essential for NCAM-mediated p59fyn activation and neurite elongation. J Cell Biol 2005;168: 127-139.