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

@article{Winkelmann2006EvidenceFF,
  title={Evidence for further genetic locus heterogeneity and confirmation of RLS‐1 in restless legs syndrome},
  author={Juliane Winkelmann and Peter Lichtner and Benno P{\"u}tz and Claudia Trenkwalder and Stephanie Hauk and Thomas Meitinger and Tim Matthias Strom and Bertram Muller-Myhsok},
  journal={Movement Disorders},
  year={2006},
  volume={21}
}
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… 

Evidence for linkage of restless legs syndrome to chromosome 9p

A family with a rather homogeneous phenotype and very early disease onset represents a unique opportunity to further elucidate the genetic causes of the frequent restless leg syndrome and demonstrates linkage to a locus on chromosome 9p that is probably distinct from RLS3.

Suggestive evidence for linkage for restless legs syndrome on chromosome 19p13

Evidence for a further RLS locus is provided, thus supporting the picture of RLS as a genetically heterogenous complex trait.

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

The identification of the underlying mutation might reveal an important susceptibility gene for this common movement disorder, and the critical region of the RLS‐5 locus is reduced.

A novel locus for restless legs syndrome maps to chromosome 19p in an Irish pedigree

A genome-wide linkage analysis in an Irish autosomal dominant RLS pedigree with 11 affected members provides evidence of a novel RLS locus and provides further evidence that RLS is a genetically heterogenous disorder.

[Advances in genetics of restless legs syndrome].

The most important findings achieved in genetic studies of RLS are reviewed and it is suggested that it is a highly heritable trait with heritability estimates of about 50%.

Family‐based association study of the restless legs syndrome loci 2 and 3 in a European population

Variable results observed in families of different ethnic groups further corroborate the genetic complexity of RLS and represent the first confirmation of these loci in a mixed European population.

Restless legs syndrome: an update on genetics and future perspectives

The molecular findings, together with the variable expressivity of the phenotype, suggest a substantial clinical and genetic heterogeneity of RLS, which is consistent with a common, underdiagnosed neurological condition.

Restless legs syndrome: Epidemiological and clinicogenetic study in a South Tyrolean population isolate

The absence of a suggestive linkage signal at the three known RLS susceptibility loci is indicative of further locus heterogeneity of this frequent disorder and encourages further studies to unveil the genetic causes of RLS.

Genetics of restless legs syndrome

The finding that the highest lod scores achieved were below the simulated scores in the respective families provided indirect evidence for the complexity of RLS.

Autosomal‐dominant locus for restless legs syndrome in French‐Canadians on chromosome 16p12.1

An autosomal‐dominant locus for Restless Legs Syndrome (RLS) in a French‐Canadian (FC) pedigree is described and copy number variation and karyotype analyses did not reveal any chromosomal abnormality in the region.
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