MovDisordV3, PascalFrancis, Curation, bibRecord, 001029

Evidence for further genetic locus heterogeneity and confirmation of RLS-1 in restless legs syndrome

Identifieur interne : 001029 ( PascalFrancis/Curation ); précédent : 001028; suivant : 001030

Evidence for further genetic locus heterogeneity and confirmation of RLS-1 in restless legs syndrome

Auteurs : Juliane Winkelmann [Allemagne] ; Peter Lichtner [Allemagne] ; Benno Pütz [Allemagne] ; Claudia Trenkwalder [Allemagne] ; Stephanie Hauk [Allemagne] ; Thomas Meitinger [Allemagne] ; Tim Strom [Allemagne] ; Bertram Muller-Myhsok [Allemagne]

Source :

Movement disorders [ 0885-3185 ] ; 2006.

RBID : Pascal:06-0135490

Descripteurs français

Pascal (Inist)
- Système nerveux pathologie, Impatience membre inférieur syndrome, Locus, Hétérogénéité, Liaison génétique, Sommeil.

English descriptors

KwdEn :
- Genetic linkage, Heterogeneity, Locus, Nervous system diseases, Restless legs syndrome, Sleep.

Abstract

Restless legs syndrome (RLS; MIM 102300) is a common neurological disorder characterized by dysesthesias and an urge to move the lower limbs. The symptoms predominantly occur at rest, in the evening, and improve with movement. There is a high familial aggregation but gene mutations have not yet been found. Three loci for RLS on chromosomes 12q, 14q, and 9p (RLS-1, RLS-2, and RLS-3) have been reported with a recessive (RLS-1) and autosomal dominant (RLS-2, RLS-3) mode of inheritance, respectively. The overall contribution of these loci to this disorder is not known. To evaluate the significance of these loci, we investigated 12 RLS families for possible linkage to these chromosomal regions. Genotyping was carried out in 70 affected family members using 26 polymorphic microsatellite markers (chromosome 12: 7; chromosome 14: 7, chromosome 9: 12). Linkage analysis was carried out using the published parameters applied in the original studies (chromosome 12: q = 0.25, f₀ = 0.005, f₁ = 0.005, f₂ = 0.8; chromosome 14: q = 0.003, f₀ = 0.005, f₁ = f₂ = 0.95; chromosome 9: q = 0.001, f₀ = 0.005, f₁ = f₂ = 0.95; affected individuals only). In addition, transmission disequilibrium test (TDT) analyses were done. We found evidence for linkage on chromosome 12 using the TDT. Linkage to RLS-2 and RLS-3 was excluded in 1 of 12 families. This supports the existence of RLS-1 and provides evidence for the likelihood of further genetic locus heterogeneity of RLS. Investigations in additional RLS families are required to confirm the known loci and further genome wide linkage analyses have the potential to identify additional RLS loci.

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A08	`01`	`1`	`ENG`	`@1 Evidence for further genetic locus heterogeneity and confirmation of RLS-1 in restless legs syndrome`
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A11	`03`	`1`		`@1 PÜTZ (Benno)`
A11	`04`	`1`		`@1 TRENKWALDER (Claudia)`
A11	`05`	`1`		`@1 HAUK (Stephanie)`
A11	`06`	`1`		`@1 MEITINGER (Thomas)`
A11	`07`	`1`		`@1 STROM (Tim)`
A11	`08`	`1`		`@1 MULLER-MYHSOK (Bertram)`
A14	`01`			`@1 Institute of Human Genetics, GSF-National Research Center for Environment and Health @2 Munich @3 DEU @Z 1 aut. @Z 2 aut. @Z 5 aut. @Z 6 aut. @Z 7 aut.`
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C01	`01`		`ENG`	@0 Restless legs syndrome (RLS; MIM 102300) is a common neurological disorder characterized by dysesthesias and an urge to move the lower limbs. The symptoms predominantly occur at rest, in the evening, and improve with movement. There is a high familial aggregation but gene mutations have not yet been found. Three loci for RLS on chromosomes 12q, 14q, and 9p (RLS-1, RLS-2, and RLS-3) have been reported with a recessive (RLS-1) and autosomal dominant (RLS-2, RLS-3) mode of inheritance, respectively. The overall contribution of these loci to this disorder is not known. To evaluate the significance of these loci, we investigated 12 RLS families for possible linkage to these chromosomal regions. Genotyping was carried out in 70 affected family members using 26 polymorphic microsatellite markers (chromosome 12: 7; chromosome 14: 7, chromosome 9: 12). Linkage analysis was carried out using the published parameters applied in the original studies (chromosome 12: q = 0.25, f₀ = 0.005, f₁ = 0.005, f₂ = 0.8; chromosome 14: q = 0.003, f₀ = 0.005, f₁ = f₂ = 0.95; chromosome 9: q = 0.001, f₀ = 0.005, f₁ = f₂ = 0.95; affected individuals only). In addition, transmission disequilibrium test (TDT) analyses were done. We found evidence for linkage on chromosome 12 using the TDT. Linkage to RLS-2 and RLS-3 was excluded in 1 of 12 families. This supports the existence of RLS-1 and provides evidence for the likelihood of further genetic locus heterogeneity of RLS. Investigations in additional RLS families are required to confirm the known loci and further genome wide linkage analyses have the potential to identify additional RLS loci.
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C03	`02`	`X`	`FRE`	`@0 Impatience membre inférieur syndrome @5 02`
C03	`02`	`X`	`ENG`	`@0 Restless legs syndrome @5 02`
C03	`02`	`X`	`SPA`	`@0 Acroparestesia nocturna @5 02`
C03	`03`	`X`	`FRE`	`@0 Locus @5 09`
C03	`03`	`X`	`ENG`	`@0 Locus @5 09`
C03	`03`	`X`	`SPA`	`@0 Locus @5 09`
C03	`04`	`X`	`FRE`	`@0 Hétérogénéité @5 10`
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C03	`04`	`X`	`SPA`	`@0 Heterogeneidad @5 10`
C03	`05`	`X`	`FRE`	`@0 Liaison génétique @5 11`
C03	`05`	`X`	`ENG`	`@0 Genetic linkage @5 11`
C03	`05`	`X`	`SPA`	`@0 Ligamiento genético @5 11`
C03	`06`	`X`	`FRE`	`@0 Sommeil @5 12`
C03	`06`	`X`	`ENG`	`@0 Sleep @5 12`
C03	`06`	`X`	`SPA`	`@0 Sueño @5 12`
C07	`01`	`X`	`FRE`	`@0 Trouble neurologique @5 37`
C07	`01`	`X`	`ENG`	`@0 Neurological disorder @5 37`
C07	`01`	`X`	`SPA`	`@0 Trastorno neurológico @5 37`
C07	`02`	`X`	`FRE`	`@0 Trouble sensibilité @5 38`
C07	`02`	`X`	`ENG`	`@0 Sensitivity disorder @5 38`
C07	`02`	`X`	`SPA`	`@0 Trastorno sensibilidad @5 38`
C07	`03`	`X`	`FRE`	`@0 Cycle veille sommeil @5 39`
C07	`03`	`X`	`ENG`	`@0 Sleep wake cycle @5 39`
C07	`03`	`X`	`SPA`	`@0 Ciclo sueño vigilia @5 39`
N21				`@1 086`
N44	`01`			`@1 OTO`
N82				`@1 OTO`

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Pascal:06-0135490

Le document en format XML

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<series><title level="j" type="main">Movement disorders</title>
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<keywords scheme="Pascal" xml:lang="fr"><term>Système nerveux pathologie</term>
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<front><div type="abstract" xml:lang="en">Restless legs syndrome (RLS; MIM 102300) is a common neurological disorder characterized by dysesthesias and an urge to move the lower limbs. The symptoms predominantly occur at rest, in the evening, and improve with movement. There is a high familial aggregation but gene mutations have not yet been found. Three loci for RLS on chromosomes 12q, 14q, and 9p (RLS-1, RLS-2, and RLS-3) have been reported with a recessive (RLS-1) and autosomal dominant (RLS-2, RLS-3) mode of inheritance, respectively. The overall contribution of these loci to this disorder is not known. To evaluate the significance of these loci, we investigated 12 RLS families for possible linkage to these chromosomal regions. Genotyping was carried out in 70 affected family members using 26 polymorphic microsatellite markers (chromosome 12: 7; chromosome 14: 7, chromosome 9: 12). Linkage analysis was carried out using the published parameters applied in the original studies (chromosome 12: q = 0.25, f<sub>0</sub>
 = 0.005, f<sub>1</sub>
 = 0.005, f<sub>2</sub>
 = 0.8; chromosome 14: q = 0.003, f<sub>0</sub>
 = 0.005, f<sub>1</sub>
 = f<sub>2</sub>
 = 0.95; chromosome 9: q = 0.001, f<sub>0</sub>
 = 0.005, f<sub>1</sub>
 = f<sub>2</sub>
 = 0.95; affected individuals only). In addition, transmission disequilibrium test (TDT) analyses were done. We found evidence for linkage on chromosome 12 using the TDT. Linkage to RLS-2 and RLS-3 was excluded in 1 of 12 families. This supports the existence of RLS-1 and provides evidence for the likelihood of further genetic locus heterogeneity of RLS. Investigations in additional RLS families are required to confirm the known loci and further genome wide linkage analyses have the potential to identify additional RLS loci.</div>
</front>
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<s2>Kassel</s2>
<s3>DEU</s3>
<sZ>4 aut.</sZ>
</fA14>
<fA20><s1>28-33</s1>
</fA20>
<fA21><s1>2006</s1>
</fA21>
<fA23 i1="01"><s0>ENG</s0>
</fA23>
<fA43 i1="01"><s1>INIST</s1>
<s2>20953</s2>
<s5>354000133169150040</s5>
</fA43>
<fA44><s0>0000</s0>
<s1>© 2006 INIST-CNRS. All rights reserved.</s1>
</fA44>
<fA45><s0>27 ref.</s0>
</fA45>
<fA47 i1="01" i2="1"><s0>06-0135490</s0>
</fA47>
<fA60><s1>P</s1>
</fA60>
<fA61><s0>A</s0>
</fA61>
<fA64 i1="01" i2="1"><s0>Movement disorders</s0>
</fA64>
<fA66 i1="01"><s0>USA</s0>
</fA66>
<fC01 i1="01" l="ENG"><s0>Restless legs syndrome (RLS; MIM 102300) is a common neurological disorder characterized by dysesthesias and an urge to move the lower limbs. The symptoms predominantly occur at rest, in the evening, and improve with movement. There is a high familial aggregation but gene mutations have not yet been found. Three loci for RLS on chromosomes 12q, 14q, and 9p (RLS-1, RLS-2, and RLS-3) have been reported with a recessive (RLS-1) and autosomal dominant (RLS-2, RLS-3) mode of inheritance, respectively. The overall contribution of these loci to this disorder is not known. To evaluate the significance of these loci, we investigated 12 RLS families for possible linkage to these chromosomal regions. Genotyping was carried out in 70 affected family members using 26 polymorphic microsatellite markers (chromosome 12: 7; chromosome 14: 7, chromosome 9: 12). Linkage analysis was carried out using the published parameters applied in the original studies (chromosome 12: q = 0.25, f<sub>0</sub>
 = 0.005, f<sub>1</sub>
 = 0.005, f<sub>2</sub>
 = 0.8; chromosome 14: q = 0.003, f<sub>0</sub>
 = 0.005, f<sub>1</sub>
 = f<sub>2</sub>
 = 0.95; chromosome 9: q = 0.001, f<sub>0</sub>
 = 0.005, f<sub>1</sub>
 = f<sub>2</sub>
 = 0.95; affected individuals only). In addition, transmission disequilibrium test (TDT) analyses were done. We found evidence for linkage on chromosome 12 using the TDT. Linkage to RLS-2 and RLS-3 was excluded in 1 of 12 families. This supports the existence of RLS-1 and provides evidence for the likelihood of further genetic locus heterogeneity of RLS. Investigations in additional RLS families are required to confirm the known loci and further genome wide linkage analyses have the potential to identify additional RLS loci.</s0>
</fC01>
<fC02 i1="01" i2="X"><s0>002B17</s0>
</fC02>
<fC02 i1="02" i2="X"><s0>002B17D</s0>
</fC02>
<fC02 i1="03" i2="X"><s0>002B17G</s0>
</fC02>
<fC03 i1="01" i2="X" l="FRE"><s0>Système nerveux pathologie</s0>
<s5>01</s5>
</fC03>
<fC03 i1="01" i2="X" l="ENG"><s0>Nervous system diseases</s0>
<s5>01</s5>
</fC03>
<fC03 i1="01" i2="X" l="SPA"><s0>Sistema nervioso patología</s0>
<s5>01</s5>
</fC03>
<fC03 i1="02" i2="X" l="FRE"><s0>Impatience membre inférieur syndrome</s0>
<s5>02</s5>
</fC03>
<fC03 i1="02" i2="X" l="ENG"><s0>Restless legs syndrome</s0>
<s5>02</s5>
</fC03>
<fC03 i1="02" i2="X" l="SPA"><s0>Acroparestesia nocturna</s0>
<s5>02</s5>
</fC03>
<fC03 i1="03" i2="X" l="FRE"><s0>Locus</s0>
<s5>09</s5>
</fC03>
<fC03 i1="03" i2="X" l="ENG"><s0>Locus</s0>
<s5>09</s5>
</fC03>
<fC03 i1="03" i2="X" l="SPA"><s0>Locus</s0>
<s5>09</s5>
</fC03>
<fC03 i1="04" i2="X" l="FRE"><s0>Hétérogénéité</s0>
<s5>10</s5>
</fC03>
<fC03 i1="04" i2="X" l="ENG"><s0>Heterogeneity</s0>
<s5>10</s5>
</fC03>
<fC03 i1="04" i2="X" l="SPA"><s0>Heterogeneidad</s0>
<s5>10</s5>
</fC03>
<fC03 i1="05" i2="X" l="FRE"><s0>Liaison génétique</s0>
<s5>11</s5>
</fC03>
<fC03 i1="05" i2="X" l="ENG"><s0>Genetic linkage</s0>
<s5>11</s5>
</fC03>
<fC03 i1="05" i2="X" l="SPA"><s0>Ligamiento genético</s0>
<s5>11</s5>
</fC03>
<fC03 i1="06" i2="X" l="FRE"><s0>Sommeil</s0>
<s5>12</s5>
</fC03>
<fC03 i1="06" i2="X" l="ENG"><s0>Sleep</s0>
<s5>12</s5>
</fC03>
<fC03 i1="06" i2="X" l="SPA"><s0>Sueño</s0>
<s5>12</s5>
</fC03>
<fC07 i1="01" i2="X" l="FRE"><s0>Trouble neurologique</s0>
<s5>37</s5>
</fC07>
<fC07 i1="01" i2="X" l="ENG"><s0>Neurological disorder</s0>
<s5>37</s5>
</fC07>
<fC07 i1="01" i2="X" l="SPA"><s0>Trastorno neurológico</s0>
<s5>37</s5>
</fC07>
<fC07 i1="02" i2="X" l="FRE"><s0>Trouble sensibilité</s0>
<s5>38</s5>
</fC07>
<fC07 i1="02" i2="X" l="ENG"><s0>Sensitivity disorder</s0>
<s5>38</s5>
</fC07>
<fC07 i1="02" i2="X" l="SPA"><s0>Trastorno sensibilidad</s0>
<s5>38</s5>
</fC07>
<fC07 i1="03" i2="X" l="FRE"><s0>Cycle veille sommeil</s0>
<s5>39</s5>
</fC07>
<fC07 i1="03" i2="X" l="ENG"><s0>Sleep wake cycle</s0>
<s5>39</s5>
</fC07>
<fC07 i1="03" i2="X" l="SPA"><s0>Ciclo sueño vigilia</s0>
<s5>39</s5>
</fC07>
<fN21><s1>086</s1>
</fN21>
<fN44 i1="01"><s1>OTO</s1>
</fN44>
<fN82><s1>OTO</s1>
</fN82>
</pA>
</standard>
</inist>
</record>

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	Movement Disorders (revue)
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Movement Disorders (revue)

Evidence for further genetic locus heterogeneity and confirmation of RLS-1 in restless legs syndrome

Evidence for further genetic locus heterogeneity and confirmation of RLS-1 in restless legs syndrome

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