Journal ArticleDOI
Canadian restless legs syndrome twin study.
Lan Xiong,K. Jang,Jacques Montplaisir,Anastasia Levchenko,Pascale Thibodeau,Claudia Gaspar,Gustavo Turecki,Guy A. Rouleau +7 more
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TLDR
A validated 36-item RLS questionnaire, used for family studies of RLS4 and reformatted to be self-administered, and a standard zygosity questionnaire were individually mailed to 600 adult co-twins from the University of British Columbia twin registry across Canada.Abstract:
Restless legs syndrome (RLS) is a common sensorimotor disorder1 where familial aggregation strongly suggests an important genetic component. However, the underlying genetic structure remains largely unknown. Due to its recent acceptance as a clinical entity and the development of standard diagnostic criteria and reliable assessment instruments,1 few and incomplete RLS twin studies have been published.2,3
### Methods.
A validated 36-item RLS questionnaire, used for our family studies of RLS4 and reformatted to be self-administered, and a standard zygosity questionnaire were individually mailed to 600 adult co-twins (age 18 years and older) from the University of British Columbia (UBC) twin registry across Canada.5 An additional 86 co-twins were identified through our family studies in Quebec (Universite de Montreal [UdeM]) and were telephone interviewed by a trained research associate using the same questionnaires. The pairs with mean zygosity scores of ≥4 were classified as monozygotic (MZ) and all others as dizygotic (DZ).6
Only individuals fulfilling all four diagnostic criteria1 were classified as definite RLS; individuals missing one essential diagnostic criterion but having one or more supporting …read more
Citations
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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
MEIS1 intronic risk haplotype associated with restless legs syndrome affects its mRNA and protein expression levels
Lan Xiong,Hélène Catoire,Patrick A. Dion,Claudia Gaspar,Ronald G. Lafrenière,Simon Girard,Anastasia Levchenko,Jean Baptiste Rivière,Laura M. Fiori,Judith St-Onge,Isabelle Bachand,Pascale Thibodeau,Richard P. Allen,Christopher J. Earley,Gustavo Turecki,Jacques Montplaisir,Guy A. Rouleau +16 more
TL;DR: Data suggest that reduced expression of the MEIS1 gene, possibly through intronic cis-regulatory element(s), predisposes to RLS.
Journal ArticleDOI
Restless legs syndrome: update on pathogenesis.
TL;DR: An update of the most recent scientific advances on the pathophysiology of primary restless legs syndrome is provided, suggesting that in at least a subgroup of RLS patients altered iron metabolism plays a role in the disorder.
Journal ArticleDOI
Family Study of Restless Legs Syndrome in Quebec, Canada Clinical Characterization of 671 Familial Cases
Lan Xiong,Jacques Montplaisir,Alex Desautels,Amina Barhdadi,Gustavo Turecki,Anastasia Levchenko,Pascale Thibodeau,Marie-Pierre Dubé,Claudia Gaspar,Guy A. Rouleau +9 more
TL;DR: The clinical data indicated that fRLS is more prominent among women who also had increased incidence of anemia/iron deficiency, arthritis, and number of pregnancies, and afflicted women tend to have a much younger age of onset.
Journal ArticleDOI
Genetics of restless legs syndrome: An update
Félix Javier Jiménez-Jiménez,Hortensia Alonso-Navarro,Elena García-Martín,José A. G. Agúndez +3 more
TL;DR: A major role of genetic factors in the risk of developing restless legs syndrome (RLS) is supported by the high frequency of positive family history of RLS in patients affected with this disease, and the higher concordance rates in monozygotic twins compared with dizygotic ones in twin studies.
References
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Journal ArticleDOI
Restless legs syndrome: diagnostic criteria, special considerations, and epidemiology. A report from the restless legs syndrome diagnosis and epidemiology workshop at the National Institutes of Health.
Richard P. Allen,Daniel L. Picchietti,Wayne A. Hening,Claudia Trenkwalder,Arthur S. Walters,Jacques Montplaisi +5 more
TL;DR: Modification of the criteria for the diagnosis of restless legs syndrome is modified to better reflect that increased body of knowledge, as well as to clarify slight confusion with the wording of the original criteria.
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
Mitoxantrone in progressive multiple sclerosis: a placebo-controlled, double-blind, randomised, multicentre trial.
Hans-Peter Hartung,Richard Gonsette,Nikolaus Konig,Hubert Kwiecinski,Andreas Guseo,Sean P. Morrissey,Hilmar Krapf,Thomas Zwingers +7 more
TL;DR: Mitoxantrone 12 mg/m(2) was generally well tolerated and reduced progression of disability and clinical exacerbations and the frequency of long-term drug-related side-effects.
Journal ArticleDOI
The genetic bases for the variation in the lipo-oligosaccharide of the mucosal pathogen, Campylobacter jejuni. Biosynthesis of sialylated ganglioside mimics in the core oligosaccharide
Michel Gilbert,Marie-France Karwaski,Stéphane Bernatchez,N. Martin Young,Eduardo N. Taboada,J.J. Michniewicz,Anna-Maria Cunningham,Warren W. Wakarchuk +7 more
TL;DR: Compared the lipo-oligosaccharide biosynthesis loci from 11 Campylobacter jejunistrains expressing a total of 8 different ganglioside mimics in their LOS outer cores, at least five distinct mechanisms that allow C. jejuni to vary the structure of the LOSouter core are identified.
Journal ArticleDOI
Biosynthesis of ganglioside mimics in Campylobacter jejuni OH4384. Identification of the glycosyltransferase genes, enzymatic synthesis of model compounds, and characterization of nanomole amounts by 600-mhz (1)h and (13)c NMR analysis.
Michel Gilbert,Jean-Robert Brisson,Marie-France Karwaski,J.J. Michniewicz,Anna-Maria Cunningham,Yuyang Wu,N. Martin Young,Warren W. Wakarchuk +7 more
TL;DR: Two strategies for the cloning of four genes responsible for the biosynthesis of the GT1a ganglioside mimic in the lipooligosaccharide (LOS) of a bacterial pathogen,Campylobacter jejuni OH4384, which has been associated with Guillain-Barré syndrome are applied.
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