Journal ArticleDOI
A genetic risk factor for periodic limb movements in sleep
Hreinn Stefansson,David B. Rye,Andrew A. Hicks,H. Petursson,Andres Ingason,Thorgeir E. Thorgeirsson,Stefan T Palsson,Thordur Sigmundsson,Albert P. Sigurdsson,Ingibjorg Eiriksdottir,Emilia Soebech,Donald L. Bliwise,Joseph M. Beck,Ami Rosen,Salina P. Waddy,Lynn Marie Trotti,Alex Iranzo,Madhav Thambisetty,Gudmundur A. Hardarson,Kristleifur Kristjansson,Larus J. Gudmundsson,Unnur Thorsteinsdottir,Augustine Kong,Jeffrey R. Gulcher,Daniel F. Gudbjartsson,Kari Stefansson +25 more
TLDR
The inverse correlation of the variant with iron stores is consistent with the suspected involvement of iron depletion in the pathogenesis of the disease and is associated with susceptibility to periodic limb movements in sleep.Abstract:
Background The restless legs syndrome (RLS) is a common neurologic disorder characterized by an irresistible urge to move the legs. It is a major cause of sleep disruption. Periodic limb movements in sleep are detectable in most patients with RLS and represent an objective physiological metric. Methods To search for sequence variants contributing to RLS, we performed a genomewide association study and two replication studies. To minimize phenotypic heterogeneity, we focused on patients with RLS who had objectively documented periodic limb movements in sleep. We measured serum ferritin levels, since iron depletion has been associated with the pathogenesis of RLS. Results In an Icelandic discovery sample of patients with RLS and periodic limb movements in sleep, we observed a genomewide significant association with a common variant in an intron of BTBD9 on chromosome 6p21.2 (odds ratio, 1.8; P=2×10–9). This association was replicated in a second Icelandic sample (odds ratio, 1.8; P=4×10–4) and a U.S. sample...read more
Citations
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Journal ArticleDOI
Control of Sleep and Wakefulness
TL;DR: Genetic studies suggest that brain mechanisms controlling waking and NREM sleep are strongly conserved throughout evolution, underscoring their enormous importance for brain function.
Journal ArticleDOI
Restless legs syndrome/Willis-Ekbom disease diagnostic criteria: updated International Restless Legs Syndrome Study Group (IRLSSG) consensus criteria--history, rationale, description, and significance.
Richard P. Allen,Daniel L. Picchietti,Diego Garcia-Borreguero,William G. Ondo,Arthur S. Walters,John W. Winkelman,Marco Zucconi,Raffaele Ferri,Claudia Trenkwalder,Hochang B. Lee +9 more
TL;DR: The IRLSSG consensus criteria for RLS/WED represent an international, interdisciplinary, and collaborative effort intended to improve clinical practice and promote further research.
Journal ArticleDOI
A HapMap harvest of insights into the genetics of common disease
TL;DR: HapMap-based discoveries have shed new light on the impact of evolutionary pressures on the human genome, suggesting multiple loci important for adapting to disease-causing pathogens and new environments.
Journal ArticleDOI
Genome-wide analysis of insomnia in 1,331,010 individuals identifies new risk loci and functional pathways
Philip R. Jansen,Kyoko Watanabe,Sven Stringer,Nathan G. Skene,Julien Bryois,Anke R. Hammerschlag,de Leeuw Ca,Jeroen S. Benjamins,Ana B. Muñoz-Manchado,Mats Nagel,Mats Nagel,Jeanne E. Savage,Henning Tiemeier,Tonya White,Joyce Y. Tung,David A. Hinds,Vacic,Xin Wang,Patrick F. Sullivan,van der Sluis S,August B. Smit,Jens Hjerling-Leffler,Van Someren Ejw,Danielle Posthuma,Danielle Posthuma +24 more
TL;DR: A large genetic association sample is used to detect novel loci and gain insight into the pathways, tissue and cell types involved in insomnia complaints, identifying 202 loci implicating 956 genes through positional, expression quantitative trait loci, and chromatin mapping.
Journal ArticleDOI
Evidence‐Based Recommendations for the Assessment and Management of Sleep Disorders in Older Persons
Harrison G. Bloom,Harrison G. Bloom,Imran Ahmed,Cathy A. Alessi,Cathy A. Alessi,Sonia Ancoli-Israel,Daniel J. Buysse,Meir H. Kryger,Barbara Phillips,Michael J. Thorpy,Michael J. Thorpy,Michael V. Vitiello,Phyllis C. Zee +12 more
TL;DR: The goals of this article are to help guide clinicians in their general understanding of sleep problems in older persons, examine specific sleep disorders that occur in older Persons, and suggest evidence‐ and expert‐based recommendations for the assessment and treatment of sleep disorders in older people.
References
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Journal ArticleDOI
Statistical Aspects of the Analysis of Data From Retrospective Studies of Disease
Nathan Mantel,William Haenszel +1 more
TL;DR: In this paper, the role and limitations of retrospective investigations of factors possibly associated with the occurrence of a disease are discussed and their relationship to forward-type studies emphasized, and examples of situations in which misleading associations could arise through the use of inappropriate control groups are presented.
Journal ArticleDOI
Validation of the International Restless Legs Syndrome Study Group rating scale for restless legs syndrome
Jun Horiguchi,Magdolna Hornyak,Ulrich Voderholzer,Meir H. Kryger,Robert Skomrow,Joseph F. Lipinski,Ahmed Masood,Barbara Phillips,Wolfgang H. Oertel,K. Stiasny,Shaun T. O'Keeffe,Alessandro Oldani,Marco Zucconi,William G. Ondo,Daniel L. Picchietti,J. Steven Poceta,Gerald B. Rich,Larry Scrima,Renata Shafor,Denise Sharon,Michael H. Silber,Robert C. Smith,Claudia Trenkwalder,Claudia Trenkwalder,Thomas C. Wetter,Juliane Winkelmann,Zeba Vanek,Mary L. Wagner,Arthur S. Walters +28 more
TL;DR: This scale meets performance criteria for a brief, patient completed instrument that can be used to assess RLS severity for purposes of clinical assessment, research, or therapeutic trials and supports a finding that RLS is a relatively uniform disorder in which the severity of the basic symptoms is strongly related to their impact on the patient's life.
Journal ArticleDOI
Toward a better definition of the restless legs syndrome
Arthur S. Walters,Michael S. Aldrich,Richard P. Allen,Sonia Ancoli-Israel,David W. Buchholz,Sudhansu Chokroverty,Giorgio Coccagna,Christopher J. Earley,Bruce L. Ehrenberg,T. G. Feest,Wayne A. Hening,Neil B. Kavey,Gilles Lavigne,Joseph F. Lipinski,Elio Lugaresi,Pasquale Montagna,Jacques Montplaisir,Sarah S. Mosko,Wolfgang H. Oertel,Daniel L. Picchietti,Thomas Pollmächer,Renata Shafor,Robert C. Smith,Wenche Telstad,C. Trenkwalder,C. Trenkwalder,Christian von Scheele,J. Catesby Ware,Marco Zucconi +28 more
TL;DR: A large International Restless Legs Syndrome (RLS) Study Group has been formed as discussed by the authors, which has taken upon itself the role of definig the clinical features of the RLS, including 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 a family history suggestive of an autosomal dominant mode of inheritance.
Journal ArticleDOI
Clinical, polysomnographic, and genetic characteristics of restless legs syndrome: A study of 133 patients diagnosed with new standard criteria
Jacques Montplaisir,Sylvie Boucher,Gaétan Poirier,Gilles Lavigne,Odile Lapierre,Paul Lespérance +5 more
TL;DR: A strong relationship was found between these complaints and polysomnographic findings; increasing sleep latency and number of awakenings and decreasing sleep efficiency were associated with worsening symptoms.
Journal ArticleDOI
Restless legs syndrome
TL;DR: Restless legs syndrome is a common cause of insomnia related to problems with sleep initiation and sleep maintenance, unrefreshing sleep, and excessive daytime sleepiness, and it may signify an underlying medical condition as mentioned in this paper.
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