TY - JOUR
T1 - Restless legs syndrome
T2 - Confirmation of linkage to chromosome 12q, genetic heterogeneity, and evidence of complexity
AU - Desautels, Alex
AU - Turecki, Gustavo
AU - Montplaisir, Jacques
AU - Xiong, Lan
AU - Walters, Arthur S.
AU - Ehrenberg, Bruce L.
AU - Brisebois, Kateri
AU - Desautels, Amelie K.
AU - Gingras, Yves
AU - Johnson, William G.
AU - Lugaresi, Elio
AU - Coccagna, Giorgio
AU - Picchietti, Daniel L.
AU - Lazzarini, Alice
AU - Rouleau, Guy A.
N1 - Copyright:
Copyright 2011 Elsevier B.V., All rights reserved.
PY - 2005/4
Y1 - 2005/4
N2 - 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 θ = 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.
AB - 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 θ = 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.
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U2 - 10.1001/archneur.62.4.591
DO - 10.1001/archneur.62.4.591
M3 - Article
C2 - 15824258
AN - SCOPUS:20144387708
SN - 0003-9942
VL - 62
SP - 591
EP - 596
JO - Archives of Neurology
JF - Archives of Neurology
IS - 4
ER -