BACKGROUND: Genes are involved in the etiology of restless legs syndrome, a common sensorimotor disorder. OBJECTIVES: To replicate and to further characterize our previously reported chromosome 12q linkage results. DESIGN: Family linkage study. SETTING AND PARTICIPANTS: A total of 276 individuals from 19 families have been examined using a selection of markers spanning the identified candidate interval on chromosome 12q. RESULTS: Two-point analyses of individual pedigrees indicated that 5 kindreds were consistent with linkage to chromosome 12q. When considering these 5 pedigrees along with the family in which linkage was originally reported, we observed a maximum 2-point logarithm-of-odds score of 5.67 (at theta = 0.10; for marker D12S1636; autosomal recessive) and a maximum multipoint logarithm-of-odds score of 8.84 between the interval defined by markers D12S326 and D12S304. Furthermore, our results also suggest the presence of heterogeneity in restless legs syndrome as linkage was formally excluded across the region in 6 pedigrees. Interestingly, significantly higher periodic leg movements during sleep indices were observed for all probands with restless legs syndrome from linked families. CONCLUSIONS: These results support the presence of a major restless legs syndrome-susceptibility locus on chromosome 12q, which has been designated as RLS1, and also suggest that at least one additional locus may be involved in the origin of this prevalent condition.
BACKGROUND: Genes are involved in the etiology of restless legs syndrome, a common sensorimotor disorder. OBJECTIVES: To replicate and to further characterize our previously reported chromosome 12q linkage results. DESIGN: Family linkage study. SETTING AND PARTICIPANTS: A total of 276 individuals from 19 families have been examined using a selection of markers spanning the identified candidate interval on chromosome 12q. RESULTS: Two-point analyses of individual pedigrees indicated that 5 kindreds were consistent with linkage to chromosome 12q. When considering these 5 pedigrees along with the family in which linkage was originally reported, we observed a maximum 2-point logarithm-of-odds score of 5.67 (at theta = 0.10; for marker D12S1636; autosomal recessive) and a maximum multipoint logarithm-of-odds score of 8.84 between the interval defined by markers D12S326 and D12S304. Furthermore, our results also suggest the presence of heterogeneity in restless legs syndrome as linkage was formally excluded across the region in 6 pedigrees. Interestingly, significantly higher periodic leg movements during sleep indices were observed for all probands with restless legs syndrome from linked families. CONCLUSIONS: These results support the presence of a major restless legs syndrome-susceptibility locus on chromosome 12q, which has been designated as RLS1, and also suggest that at least one additional locus may be involved in the origin of this prevalent condition.
Authors: Irene Pichler; Fabio Marroni; Claudia Beu Volpato; James F Gusella; Christine Klein; Giorgio Casari; Alessandro De Grandi; Peter P Pramstaller Journal: Am J Hum Genet Date: 2006-08-14 Impact factor: 11.025
Authors: D Kemlink; O Polo; B Frauscher; V Gschliesser; B Högl; W Poewe; P Vodicka; J Vavrova; K Sonka; S Nevsimalova; B Schormair; P Lichtner; K Silander; L Peltonen; C Gieger; H E Wichmann; A Zimprich; D Roeske; B Müller-Myhsok; T Meitinger; J Winkelmann Journal: J Med Genet Date: 2009-03-10 Impact factor: 6.318
Authors: Angela Roco; Félix Javier Jiménez-Jiménez; Hortensia Alonso-Navarro; Carmen Martínez; Martín Zurdo; Laura Turpín-Fenoll; Jorge Millán; Teresa Adeva-Bartolomé; Esther Cubo; Francisco Navacerrada; Ana Rojo-Sebastián; Lluisa Rubio; Marisol Calleja; José Francisco Plaza-Nieto; Belén Pilo-de-la-Fuente; Margarita Arroyo-Solera; Elena García-Martín; José A G Agúndez Journal: J Neural Transm (Vienna) Date: 2012-09-22 Impact factor: 3.575
Authors: David Kemlink; Giuseppe Plazzi; Roberto Vetrugno; Federica Provini; Olli Polo; Karin Stiasny-Kolster; Wolfgang Oertel; Sona Nevsimalova; Karel Sonka; Birgit Högl; Birgit Frauscher; Georgios M Hadjigeorgiou; Peter P Pramstaller; Peter Lichtner; Thomas Meitinger; Bertram Müller-Myshok; Juliane Winkelmann; Pasquale Montagna Journal: Neurogenetics Date: 2008-01-10 Impact factor: 2.660