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

@article{Sas2010AutosomalDR,
  title={Autosomal dominant restless legs syndrome maps to chromosome 20p13 (RLS‐5) in a Dutch kindred},
  author={Antonetta M. G. Sas and Alessio Di Fonzo and Stef L.M. Bakker and Erik J. Simons and Ben A. Oostra and Anneke JA Maat-Kievit and Agnita J. W. Boon and Vincenzo Bonifati},
  journal={Movement Disorders},
  year={2010},
  volume={25}
}
Six chromosomal loci have been mapped for restless legs syndrome (RLS) through family‐based linkage analysis (RLS‐1 to RLS‐6), but confirmation has met with limited success, and causative mutations have not yet been identified. We ascertained a large multigenerational Dutch family with RLS of early onset (average 18 years‐old). The clinical study included a follow‐up of 2 years. To map the underlying genetic defect, we performed a genome‐wide scan for linkage using high‐density SNP microarrays… 
15 Citations

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A genetic linkage at chromosome 13 in a RLS family is demonstrated and this result shows strong genetic linkage to this locus, which supports the genetic heterogeneity in the pathogenesis of this syndrome.

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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.

Latest Perspectives in Genetic Risk Factors for Restless Legs Syndrome

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This review summarises the studies performed on families with RLS, twin studies, linkage studies, genome-wide association studies, case-control association studies and exome sequencing in RLS and identifies the strongest candidate genes of PTPRD, BTBD9 and MEIS.

An update on restless legs syndrome (Willis-Ekbom disease): clinical features, pathogenesis and treatment.

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Recent epidemiological findings have shown that RLS/WED is a common neurological disorder that affects up to 5% of the adult population in Western countries and has a strong impact on sleep and quality of life and can involve an increased cardiovascular risk.

The status of rotigotine as a safe and effective alternative in the treatment of restless legs syndrome

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RLS is characterized by an urge to move the legs that occurs mainly with inactivity, and it is relieved by movement and is usually worse by the end of the day, and the American Academy of Sleep Medicine clinical practice guideline recommends a “Guideline Level” for rotigotine.

Restless Legs Syndrome: Pathophysiology and Treatment

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TLDR
Dopamine agonists may most robustly improve pure urge to move and certainly periodic limb movements and Mu specific opioids also robustly improved RLS and are probably underutilized in severe cases.

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TLDR
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.

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

TLDR
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.

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

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

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TLDR
Evidence for linkage on chromosome 12 supports the existence of RLS‐1 and provides evidence for the likelihood of further genetic locus heterogeneity of RLP, and further genome wide linkage analyses have the potential to identify additional RLS loci.

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TLDR
These findings represent the first mapping of a locus conferring susceptibility to RLS, and positioning the RLS-predisposing gene in a 14.71-cM region between D 12S1044 and D12S78 is refined.

A novel autosomal dominant restless legs syndrome locus maps to chromosome 20p13

The authors investigated genetic factors contributing to restless legs syndrome (RLS) by performing a 10-cM genome-wide scan in a large French-Canadian pedigree. They detected an autosomal-dominant

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

TLDR
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: confirmation of linkage to chromosome 12q, genetic heterogeneity, and evidence of complexity.

TLDR
The results support the presence of a major restless legs syndrome-susceptibility locus on chromosome 12q, which has been designated as RLS1, and suggest that at least one additional locus may be involved in the origin of this prevalent condition.

Genome-wide association study of restless legs syndrome identifies common variants in three genomic regions

TLDR
A genome-wide association study found highly significant associations between RLS and intronic variants in the homeobox gene MEIS1, the BTBD9 gene encoding a BTB(POZ) domain as well as variants in a third locus containing the genes encoding mitogen-activated protein kinase MAP2K5 and the transcription factor LBXCOR1 on chromosomes 2p, 6p and 15q.

RLS3: Fine-mapping of an autosomal dominant locus in a family with intrafamilial heterogeneity

TLDR
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