Literature DB >> 17557342

Genetics of restless legs syndrome (RLS): State-of-the-art and future directions.

Juliane Winkelmann1, Oli Polo, Federica Provini, Sonja Nevsimalova, David Kemlink, Karel Sonka, Birgit Högl, Werner Poewe, Karin Stiasny-Kolster, Wolfgang Oertel, Al de Weerd, Luigi Ferini Strambi, Marco Zucconi, Peter P Pramstaller, Isabelle Arnulf, Claudia Trenkwalder, Christine Klein, Georgios M Hadjigeorgiou, Svenja Happe, David Rye, Pasquale Montagna.   

Abstract

Several studies demonstrated that 60% of restless legs syndrome (RLS) patients have a positive family history and it has been suggested that RLS is a highly hereditary trait. To date, several loci have been mapped but no gene has been identified yet. Phenocopies and possible nonpenetrants made it difficult to detect a common segregating haplotype within the families. Defining the exact candidate region is hampered by possible intrafamilial, allelic, and nonallelic heterogeneity. One important prerequisite for future successful genetic studies in RLS is the availability of large and thoroughly phenotyped patients and family samples for linkage as well as association studies.

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Year:  2007        PMID: 17557342     DOI: 10.1002/mds.21587

Source DB:  PubMed          Journal:  Mov Disord        ISSN: 0885-3185            Impact factor:   10.338


  15 in total

Review 1.  An update on the pathophysiology and genetics of restless legs syndrome.

Authors:  Lynn Marie Trotti; Srinivas Bhadriraju; David B Rye
Journal:  Curr Neurol Neurosci Rep       Date:  2008-07       Impact factor: 5.081

2.  Missense mutations in TENM4, a regulator of axon guidance and central myelination, cause essential tremor.

Authors:  Hyun Hor; Ludmila Francescatto; Luca Bartesaghi; Sara Ortega-Cubero; Maria Kousi; Oswaldo Lorenzo-Betancor; Felix J Jiménez-Jiménez; Alexandre Gironell; Jordi Clarimón; Oliver Drechsel; José A G Agúndez; Daniela Kenzelmann Broz; Ruth Chiquet-Ehrismann; Alberto Lleó; Francisco Coria; Elena García-Martin; Hortensia Alonso-Navarro; Maria J Martí; Jaume Kulisevsky; Charlotte N Hor; Stephan Ossowski; Roman Chrast; Nicholas Katsanis; Pau Pastor; Xavier Estivill
Journal:  Hum Mol Genet       Date:  2015-07-17       Impact factor: 6.150

3.  Preface for the 3rd Clinical Update Sleep, 23rd February 2018, Royal College of Physicians, London, UK: year in review.

Authors:  Culadeeban Ratneswaran; Manpreet K Sagoo; Joerg Steier
Journal:  J Thorac Dis       Date:  2018-01       Impact factor: 2.895

Review 4.  Iron, dopamine, genetics, and hormones in the pathophysiology of restless legs syndrome.

Authors:  Farhan H Khan; Caitlyn D Ahlberg; Christopher A Chow; Divya R Shah; Brian B Koo
Journal:  J Neurol       Date:  2017-02-24       Impact factor: 4.849

Review 5.  Treatment of restless legs syndrome.

Authors:  Cynthia L Comella
Journal:  Neurotherapeutics       Date:  2014-01       Impact factor: 7.620

Review 6.  Restless legs syndrome associated with major diseases: A systematic review and new concept.

Authors:  Claudia Trenkwalder; Richard Allen; Birgit Högl; Walter Paulus; Juliane Winkelmann
Journal:  Neurology       Date:  2016-03-04       Impact factor: 9.910

Review 7.  A practical approach to the diagnosis and management of sleep disorders in patients with multiple sclerosis.

Authors:  Tiffany J Braley; Ronald D Chervin
Journal:  Ther Adv Neurol Disord       Date:  2015-11       Impact factor: 6.570

8.  MEIS1 and BTBD9: genetic association with restless leg syndrome in end stage renal disease.

Authors:  Barbara Schormair; Jens Plag; Maria Kaffe; Nadine Gross; Darina Czamara; Walter Samtleben; Peter Lichtner; Andreas Ströhle; Ioannis Stefanidis; Andreas Vainas; Efthimios Dardiotis; George K Sakkas; Christian Gieger; Bertram Müller-Myhsok; Thomas Meitinger; Uwe Heemann; Georgios M Hadjigeorgiou; Konrad Oexle; Juliane Winkelmann
Journal:  J Med Genet       Date:  2011-05-14       Impact factor: 6.318

9.  Overview: A Framework for the Discussion of Sleep in Multiple Sclerosis.

Authors:  Tiffany J Braley
Journal:  Curr Sleep Med Rep       Date:  2017-10-28

10.  A Genome-Wide Association Study Identifies UTRN Gene Polymorphism for Restless Legs Syndrome in a Korean Population.

Authors:  Chul-Hyun Cho; Ji-Hye Choi; Seung-Gul Kang; Ho-Kyoung Yoon; Young-Min Park; Joung-Ho Moon; Ki-Young Jung; Jin-Kyu Han; Hong-Bum Shin; Hyun Ji Noh; Yong Seo Koo; Leen Kim; Hyun Goo Woo; Heon-Jeong Lee
Journal:  Psychiatry Investig       Date:  2017-11-07       Impact factor: 2.505

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