Mode of inheritance and susceptibility locus for restless legs syndrome, on chromosome 12q.

@article{Kock2002ModeOI,
  title={Mode of inheritance and susceptibility locus for restless legs syndrome, on chromosome 12q.},
  author={Norman Kock and Biljana Culjkovi{\'c} and Susanna Maniak and Karla Schilling and Birgitt M{\"u}ller and Christine Z{\"u}hlke and Laurie J. Ozelius and Christine Klein and Peter Paul Pramstaller and Patricia Kramer},
  journal={American journal of human genetics},
  year={2002},
  volume={71 1},
  pages={
          205-8; author reply 208
        }
}
To the Editor: We read with interest the report by Desautels et al. (2001), who have described a susceptibility locus for restless legs syndrome (RLS), on chromosome 12q, in a family with putative autosomal recessive inheritance of RLS. RLS is a movement disorder characterized by a desire to move the extremities, often associated with motor restlessness, paresthesias/dysesthesias, worsening of symptoms at rest with at least temporary relief by activity, and worsening of symptoms in the… 

Evidence for linkage of restless legs syndrome to chromosome 9p

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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.

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

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.

A Novel Locus for Restless Legs Syndrome on Chromosome 13q

TLDR
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.

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.

Genetics in restless legs syndrome.

Genetics of restless legs syndrome: An update.

Restless legs syndrome: an update on genetics and future perspectives

TLDR
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.

[Advances in genetics of restless legs syndrome].

TLDR
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%.

References

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Identification of a major susceptibility locus for restless legs syndrome on chromosome 12q.

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.

Clinical symptoms and possible anticipation in a large kindred of familial restless legs syndrome

TLDR
This large German kindred of familial RLS with 20 affected and investigated members in four generations showed the variety of clinical RLS symptoms with decreasing age of onset in generations II‐IV, suggesting at least the possibility of anitcipation.

Studies of penetrance and anticipation in five autosomal‐dominant restless legs syndrome pedigrees

TLDR
In two of the five analyzed pedigrees, there is statistical support for anticipation and variations in penetrance and anticipation suggest possible genetic heterogeneity.

Toward a better definition of the restless legs syndrome

TLDR
Features commonly seen in RLS include sleep disturbance, periodic limb movements in sleep and similar involuntary movements while awake, a normal neurological examination in the idiopathic from, a tendency for the symptoms to be worse in middle to older age, and, in some cases, a family history suggestive of an autosomal dominant mode of inheritance.

Restless legs syndrome in monozygotic twins: Clinical correlates

Article abstract—To better understand genetic characteristics of restless legs syndrome (RLS) and identify nongenetic factors that may influence phenotype, the authors studied 12 identical twins in

The VITESSE algorithm for rapid exact multilocus linkage analysis via genotype set–recoding and fuzzy inheritance

TLDR
A novel set–recoding scheme is used to recode each person's genotype and ‘fuzzy inheritance’ to infer transmission probabilities and VITESSE enables fast and precise multipoint mappin of disease loci with highly polymorphic markers.

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TLDR
From a practical point of view, the most important improvement may be the checkpointing facility which allows the user to carry out linkage computations that are much longer than the mean-time-to-failure of the underlying computer.

Road, Portland, OR 97201-3098. E-mail: kramer@ohsu.edu 2002 by The American Society of Human Genetics

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  • 2002

Segregation analysis of families with restless legs syndrome provides evidence for a single gene and autosomaldominant mode of inheritance

  • Sleep Suppl 24:A102
  • 2001