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1.
This study aimed to explore the association between restless legs syndrome and irritable bowel syndrome in an epidemiological cohort. We included 3365 adults, of whom 1602 were female (age 52.5 ± 7.5 years), who had participated in the Korean Genome and Epidemiology Study (2005–2006). The diagnosis of restless legs syndrome was based on the criteria proposed by the International Restless Legs Syndrome Study Group, and irritable bowel syndrome was defined according to the Rome II criteria. The prevalence of each condition was determined and their association was tested by logistic regression analysis. Age, sex, haemoglobin concentration, renal insufficiency, use of medications and depressive mood were all adjusted for. The prevalence of restless legs syndrome and irritable bowel syndrome was 4.5 and 11.1%, respectively. Irritable bowel syndrome was more prevalent in the group with restless legs syndrome (24.0 versus 10.5%, P < 0.001). Subjects with restless legs syndrome were older (54.2 ± 8.4 versus 52.4 ± 7.4, P = 0.006) and more depressive (26.7 versus 12.5%, P < 0.001), and were predominantly female (57.3 versus 47.2%, P = 0.015), had more frequent insomnia symptoms (44.0 versus 28.2%, P < 0.001), had lower haemoglobin concentration (13.7 ± 1.5 versus 14.1 ± 1.6 g dL?1P = 0.004) and higher highly sensitive C‐reactive protein (1.8 ± 5.1 versus 1.4 ± 2.9 mg dL?1, P = 0.08). The adjusted odds ratio of restless legs syndrome in relation to irritable bowel syndrome was 2.59 (1.74–3.85, P < 0.001). Irritable bowel syndrome appeared to be associated with restless legs syndrome independently from other major risk factors for restless legs syndrome. Searching for the mechanisms underlying this association is indicated. 相似文献
2.
Massimiliano M. Siccoli Claudio L. Bassetti Rositsa Poryazova Esther Werth 《Journal of sleep research》2013,22(5):589-592
The diagnosis of restless legs syndrome (RLS) relies upon diagnostic criteria which are based on history only, and dopaminergic treatment is not normally the first choice of treatment for all patients. It would be worthwhile to identify patients non‐responsive to dopaminergic treatment beforehand, because they may suffer from a restless legs‐like syndrome and may require alternative treatment. We included retrospectively 24 adult patients fulfilling the four essential criteria for restless legs and 12 age‐matched healthy controls. They were investigated by ambulatory actigraphy from both legs over three nights, and patients started treatment with dopamine agonists after this diagnostic work‐up. We examined 12 responders to dopaminergic treatment and 12 non‐responders and studied the association between response to dopaminergic treatment and the periodic limb movement index (PLMI) as assessed with actigraphy. Demographic characteristics, excessive daytime sleepiness and fatigue at baseline were similar in all three groups. Baseline RLS severity was similar between responders and non‐responders [International Restless Legs Severity Scale (IRLS): 25 ± 9 and 24 ± 8]. Group comparisons of PLMI before treatment initiation showed significant differences between the three groups. Post‐hoc pairwise comparisons revealed that healthy controls had significantly lower PLMI (4.9 ± 4.5) than responders (29.3 ± 22.7) and non‐responders (13.3 ± 11.2). Similarly, the PLMI in responders was lower than in non‐responders. PLMI day‐to‐day variability did not differ between responders and non‐responders and there was no correlation between treatment effect, as assessed by the decrease of the IRLS and baseline PLMI. Our retrospective study indicates that actigraphy to assess periodic limb movements may contribute to a better diagnosis of dopamine‐responsive restless legs syndrome. 相似文献
3.
Epidemiology of restless legs syndrome in Korean adults 总被引:2,自引:0,他引:2
STUDY OBJECTIVES: To investigate the prevalence of restless legs syndrome (RLS) in Korea. DESIGN: A large population-based telephone interview method using the Korean version of the Johns Hopkins telephone diagnostic interview for the RLS. SETTING: A computer aided telephone interview method. PARTICIPANTS: A total of 5,000 subjects (2,470 men and 2,530 women) were interviewed in depth. A representative sample aged 20 to 69 years was constituted according to a stratified, multistage random sampling method. INTERVENTIONS: N/A. MEASUREMENTS AND RESULTS: Of the respondents, 373 respondents (7.5%) of the population (pop) met the criteria for the definite or probable RLS groups: 194 (3.9% of pop) respondents fulfilled the criteria for definite RLS and 179 (3.6% of pop) respondents fulfilled the criteria for probable RLS. The prevalence of RLS was generally higher for women than men (4.4% vs. 3.3% for definite, 8.7% vs. 6.2% for definite plus probable). About 90% of RLS individuals were experiencing symptoms at the time of the interview and this was similar for both RLS groups. Seventy-four respondents (1.48%) reported symptoms were moderately or severely distressing and were therefore classified as RLS "sufferers." Of those with a diagnosis of RLS sufferer, 24.3% reported being treated for their symptoms, compared to 12.4% of RLS not designated a "sufferer." CONCLUSION: RLS is common and underdiagnosed in Korea with nearly 1% of the population reporting disturbed sleep related to their RLS. These results are comparable to other countries. 相似文献
4.
Pan Chen Julia Bornhorst Stephanie Patton Kanika Bagai Rachana Nitin Mahfuzur Miah Dominic J Hare Kai Kysenius Peter J Crouch Lan Xiong Guy A Rouleau Tanja Schwerdtle James Connor Michael Aschner Aaron B Bowman Arthur S Walters 《Sleep》2021,44(4)
Study ObjectivesEvaluate serum and brain noniron metals in the pathology and genetics of restless legs syndrome (RLS).MethodsIn two independent studies (cohorts 1 and 2), in which subjects either remained on medications or tapered off medications, we analyzed serum levels of iron, calcium, magnesium, manganese, copper, and zinc both in RLS patients and controls, and assessed the prevalence of the MEIS1 and BTBD9 risk alleles previously established through genome-wide association studies. Human brain sections and a nematode genetic model were also quantified for metal levels using mass spectrometry.ResultsWe found a significant enrichment for the BTBD9 risk genotype in the RLS affected group compared to control (p = 0.0252), consistent with previous literature. Serum (p = 0.0458 and p = 0.0139 for study cohorts 1 and 2, respectively) and brain (p = 0.0413) zinc levels were significantly elevated in the RLS patients versus control subjects.ConclusionWe show for the first time that serum and brain levels of zinc are elevated in RLS. Further, we confirm the BTBD9 genetic risk factor in a new population, although the zinc changes were not significantly associated with risk genotypes. Zinc and iron homeostasis are interrelated, and zinc biology impacts neurotransmitter systems previously linked to RLS. Given the modest albeit statistically significant increase in serum zinc of ~20%, and the lack of association with two known genetic risk factors, zinc may not represent a primary etiology for the syndrome. Further investigation into the pathogenetic role that zinc may play in restless legs syndrome is needed. 相似文献
5.
Few and controversial data exist about the relationship between socio‐economic status and restless legs syndrome, and prospective analyses are lacking. We aimed to explore the associations between socio‐economic factors and incident restless legs syndrome in the general population. Two prospective population‐based cohort studies were conducted: the Dortmund Health Study with a mean follow‐up of 2.2 years; and the Study of Health in Pomerania with a mean follow‐up of 5.2 years. The studies included 1312 subjects and 4308 subjects, respectively. Restless legs syndrome was assessed twice according to the standard minimal criteria. The modified Winkler Index of social class, education, job status, partnership and income were assessed by interviews at baseline. The risk of restless legs syndrome associated with each socio‐economic factor was estimated by multivariable logistic regression adjusted for behavioural factors and co‐morbidities. Female gender, being retired and unemployment were independent risk factors of incident restless legs syndrome in both studies. Low level of education and income were independently associated with incident restless legs syndrome only in the Dortmund Health Study, but not in the other study. Migrational background and shiftwork were further independent risk factors of restless legs syndrome that were only assessed in the Dortmund Health Study. People with less favourable socio‐economic situation are at an increased risk of developing restless legs syndrome. Behavioural variables and co‐morbidities did not explain this association, thus further studies are required to reveal the mechanism behind the proposed relationship. 相似文献
6.
Eric J Earley Maria Didriksen Bryan R Spencer Joseph E Kiss Christian Erikstrup Ole B Pedersen Erik Srensen Kristoffer S Burgdorf Steven H Kleinman Alan E Mast Michael P Busch Henrik Ullum Grier P Page 《Sleep》2021,44(4)
Restless legs syndrome (RLS) is a common sensorimotor disorder, which can disrupt sleep and is thought to be caused in part by low cellular iron stores. Proton pump inhibitors (PPI) and histamine H2-receptor antagonists (H2A) are among the most commonly used drugs worldwide and show evidence of causing iron deficiency. We conducted a case/non-case observational study of blood donors in the United States (N = 13,403; REDS-III) and Denmark (N = 50,323; Danish Blood Donor Study, DBDS), both of which had complete blood count measures and a completed RLS assessment via the Cambridge–Hopkins RLS questionnaire. After adjusting for age, sex, race, BMI, blood donation frequency, smoking, hormone use, and iron supplement use, PPI/H2A use was associated with RLS (odds ratio [OR] = 1.41; 95% confidence interval [CI], 1.13–1.76; p = 0.002) in REDS-III for both PPI (OR = 1.43; CI, 1.03–1.95; p = 0.03) and H2A (OR = 1.56; CI, 1.10–2.16; p = 0.01). DBDS exhibited a similar association with PPIs/H2As (OR = 1.29; CI, 1.20–1.40; p < 0.001), and for PPIs alone (OR = 1.27; CI, 1.17–1.38; p < 0.001), but not H2As alone (OR = 1.18; CI, 0.92–1.53; p = 0.2). We found no evidence of blood iron stores mediating this association. The association of PPI, and possibly H2A, consumption with RLS independent of blood iron status and other factors which contribute to RLS risk suggest the need to re-evaluate use of PPI/H2A in populations at particular risk for RLS. 相似文献
7.
Magdolna Hornyak MD Sylvia Kotterba Claudia Trenkwalder Christine Behmenburg Heike Benes Peter Clarenbach Ilonka Eisensehr W. Emser Jean Haan Swenja Happe Birgit Högl Bertram Holinka Jorg Kinkelbur Brigitte Kurella Peter Lüdemann Retmer Lund Geert Mayer W. Oertel Thomas Pollmächer Andrea Rodenbeck Felix Rosenow Hans-Christoph Scholle Hartmut Schulz Karin Stiasny Björn Walther Thomas Chr Wetter Juliane Winkelmann Klaus Wirtz 《Somnologie - Schlafforschung und Schlafmedizin》2001,5(4):159-162
Summary Restless legs syndrome (RLS) is diagnosed clinically by evaluating the patient's complaints. Diagnostic criteria based on the clinical symptoms were defined by the International Restless Legs Syndrome Study Group. Laboratory and/or neurophysiological assessments can differentiate a primary (idiopathic) RLS from a secondary (associated with an other disease) RLS. Some differential diagnostic and therapeutic issues may, however, require polysomnographic assessment. An investigation in the sleep laboratory should be considered in the following cases: 1) in patients with "atypical" RLS symptoms to support the diagnosis, before pharmacological treatment is begun; 2) in patients on sufficient dopaminergic treatment but still suffering from sleep disturbance, in order to exclude other sleep-related disorders; 3) in patients with mild RLS but marked daytime sleepiness as the main symptom; 4) to support the diagnosis in young patients with severe RLS before dopaminergic treatment is begun or in patients with severe RLS before the start of a treatment with opiates; 5) in patients with RLS and sleep-related respiratory disorders; 6) and finally in patients who are involved in a formal expert's opinion report. Further indications may exist in exceptional cases. A recommendation for performing polysomnography should be always made by a clinician experienced in the diagnosis and treatment of sleep disorders. 相似文献
8.
Plazzi G Ferri R Franceschini C Vandi S Detto S Pizza F Poli F De Cock VC Bayard S Dauvilliers Y 《Journal of sleep research》2012,21(2):155-162
We compared periodic and non‐periodic leg movements during sleep and polysomnography in patients with narcolepsy with cataplexy (NC) with or without restless legs syndrome (RLS) with matched idiopathic RLS (iRLS) and control subjects. We enrolled 100 patients with NC: 17 having RLS were compared with 34 sex‐ and age‐matched patients without RLS and with 17 normal controls and 17 iRLS subjects. Periodic leg movements were highest in iRLS and lowest in controls, with those in NC with RLS very close to iRLS, but higher than those in NC without RLS. The periodicity indexes showed the highest value in iRLS followed by NC with or without RLS and, finally, by controls. The inter‐leg movement intervals peaked between 10 and 50 s in NC with RLS and in iRLS, the former did not display the nocturnal gradual decrease of periodic leg movements typical of iRLS. Periodic leg movements during sleep and polysomnography displayed specific features in RLS and NC, respectively, with NC with RLS showing an intermediate pattern. Even if RLS is only detected by targeted interview in NC, its frequency and impact on night‐time sleep architecture and continuity suggest that this condition should be routinely searched for in NC. 相似文献
9.
Many patients with restless legs syndrome (Willis–Ekbom disease) complain of burning sensations in their feet associated with the desire to move, such that they seek cooler environments. This pilot study aimed to characterise the microvascular skin changes in 12 patients with restless legs syndrome compared with 12 age‐ and sex‐matched controls. Patients with moderate or severe restless legs syndrome and controls underwent detailed thermovascular assessment in a controlled temperature room at three different stages (normothermic phase 23 °C, hot phase 30 °C, cold phase 18 °C). Microvascular activity was recorded during all phases by bilateral great toe laser‐Doppler flowmetry and also by whole‐body thermography. Patient and control measurements were compared. The study protocol was well tolerated. Parameters extracted from the laser‐Doppler flowmetry measurements were used to model a logistic function using binary logistic regression. This demonstrated a statistically significant difference between patients with restless legs syndrome and healthy controls (P < 0.001). Visual inspection of the body thermography image sequences showed increased lower limb movement in patients with restless legs syndrome patients compared with controls. Thermography analysis also showed significant differences between foot temperatures in patients with restless legs syndrome compared with controls during the hot phase (P = 0.011). Notably, patients with restless legs syndrome had more uniform foot temperatures, whereas controls had a wider variability in surface temperature across the feet. This novel study demonstrates impaired microvascular circulation in patients with restless legs syndrome in comparison to matched controls and a potential mechanism for the sensation of burning feet. The protocol also provides an experimental paradigm to test therapeutic interventions for the future. 相似文献
10.
11.
Few studies have investigated the mechanisms responsible for the symptoms of restless legs syndrome (RLS). However, these studies were mainly performed during the asymptomatic period and therefore their findings might not apply to changes in sensory processing that occur during the symptomatic period. The objective of this study was to investigate the function of sensory nerve fibres in RLS patients using the current perception threshold (CPT) test during the daytime and in the presence of symptoms. Ninety‐three patients with RLS and 34 healthy controls were included in the study. RLS patients were further divided into two subgroups, those who were experiencing RLS symptoms during the CPT test (symptom+) and those without symptoms (symptom?). Demographic data, RLS rating scale score and visual analogue scale were collected. Of the 127 enrolled subjects, CPT values were significantly lower in RLS patients than in controls for all three frequencies. Among the control and RLS subgroups (53 symptom+, 40 symptom?), symptom+ patients showed lower CPT values than controls. This finding indicates a relative hyperaesthetic state in the sensory afferents of peripheral nerves in symptom+ patients. There were no significant differences between the symptom? group and controls. The significantly lower CPT values for all three frequencies in symptom+ patients suggest that central sensory processing disturbance of sensory nerve fibres’ input may be involved in the development of symptoms in RLS patients. 相似文献
12.
Circadian variation of flexor withdrawal and crossed extensor reflexes in patients with restless legs syndrome
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Chloe Dafkin Andrew Green Benita Olivier Warrick Mckinon Samantha Kerr 《Journal of sleep research》2018,27(5)
An evening state of spinal hyperexcitability has been proposed to be a possible cause of evening increases in restless legs syndrome symptoms. Thus, the objective of the current study was to assess the circadian variation in spinal excitability in patients with restless legs syndrome based on flexor withdrawal reflex and crossed extensor reflex responses. The reflexes were elicited on 12 participants with restless legs syndrome and 12 healthy control participants in the evening (PM) and the morning (AM). Reflex response magnitudes were measured electromyographically and kinematically. Both the reflexes showed a circadian rhythm in participants with restless legs syndrome but not in control participants. Changes in ankle (median flexor withdrawal reflex PM: 16.0 ° versus AM: 2.8 °, P = 0.042; crossed extensor reflex PM: 0.8 ° versus AM: 0.2 °, P = 0.001) angle were significantly larger, and ankle angular velocity (median flexor withdrawal reflex PM: 38.8 ° s?1 versus AM: 13.9 ° s?1, P = 0.049; crossed extensor reflex PM: 2.4 ° s?1 versus AM: 0.5 ° s?1, P = 0.002) was significantly faster in the evening compared with the morning in participants with restless legs syndrome, for both reflexes. For participants with restless legs syndrome, evening change in hallux angle was significantly larger than morning responses (median PM: 5.0 ° versus AM: 1.3 °, P = 0.012). No significant differences for any of the electromyographic or kinematic variables were observed between participants with restless legs syndrome and controls. The flexor withdrawal reflex and the crossed extensor reflex show a circadian rhythm in participants with restless legs syndrome suggesting an evening increase in spinal excitability. We hypothesize the circadian variation in spinal excitability may be due to a possible nocturnal form of afferent circuitry central sensitization in the dorsal horn of the spinal cord in patients with restless legs syndrome. 相似文献
13.
S.M. Summers J. Cogswell J.E. Goodrich Y. Mu D.V. Nguyen S.D. Brass R.J. Hagerman 《Clinical genetics》2014,86(2):181-184
This study examined the relationship between the fragile X premutation and restless legs syndrome (RLS). Demographic, medical history and survey responses related to sleep were collected from 213 participants (127 carriers and 86 age matched controls). Subjects were asked about the presence of the four formal diagnostic criteria for RLS. Individuals with the premutation were 1.9 times as likely to meet criteria for RLS (95% CI 1.1–3.2, p = 0.025) as controls. Premutation carriers with RLS also experienced significantly worse symptoms than matched controls with adjusted mean scores of 15.1 ± 8.8 vs 7.9 ± 4.4, respectively on the International Restless Legs Scale (IRLS). As markers for domains of sleep disturbance, all subjects completed the Epworth Sleepiness Scale (ESS), the Insomnia Severity Index (ISA) and the Pittsburgh Sleep Quality Index (PSQI). Premutation carriers demonstrated significantly more pathology on these tests except for the ESS where there was a trend towards increased daytime sleepiness in carriers. RLS joins a host of other conditions that should be carefully screened for in those carrying the fragile X premutation and sleep should be a focus for clinicians providing care to them. 相似文献
14.
Raffaele Ferri Lourdes M. DelRosso Alessandro Silvani Filomena I. I. Cosentino Daniel L. Picchietti Paola Mogavero Mauro Manconi Oliviero Bruni 《Journal of sleep research》2020,29(3)
The objective of this observational cohort study was to analyse the age‐related changes of periodic leg movements during sleep using the newest international scoring rules, to expand past analyses, including patients in the paediatric age range, and also to analyse the changes of short‐interval and isolated leg movements during sleep throughout the lifespan. One hundred and sixty‐five patients (84 women) with restless legs syndrome were recruited in the following age groups: 16 preschoolers (≤5 years of age), 29 school‐age children (6–12 years), 19 adolescents (13–17 years), 17 young adults (19–40 years), 47 adults (41–60 years) and 37 seniors (>60 years). Total, periodic, short‐interval and isolated leg movements during sleep and periodicity indexes were obtained by polysomnography. The total index showed (quartic polynomial interpolation) a decrease before 10 years, followed by a steady increase up to 30 years, a relatively stable period until 60 years, and a final increase up to 80 years. This course was almost entirely due to changes in periodic movements. Isolated movements did not change significantly and short‐interval movements showed only an increase in seniors. Our study indicates that, in restless legs syndrome, the total index shows a peculiar and unique course throughout the lifespan, mainly due to periodic movements. These age‐related changes may mirror developmental changes in network complexity known to occur in dopaminergic circuits. These data further confirm the need to better assess the periodicity of leg movements in sleep during the human development period, in order to obtain clinically useful information. 相似文献
15.
András Szentkirályi Henry Völzke Wolfgang Hoffmann Svenja Happe Klaus Berger 《Journal of sleep research》2013,22(4):434-442
Previous cross‐sectional studies regarding the association of restless legs syndrome (RLS) with cardiovascular morbidity are controversial. Our aim was to evaluate prospectively the relationship of cardiovascular risk factors and vascular diseases with incident RLS in the general population. The results are from two prospective population‐based cohort studies: the Dortmund Health Study (n = 1312, median follow‐up of 2.1 years) and the Study of Health in Pomerania (n = 4308, median follow‐up of 5.0 years). RLS status was assessed twice according to the minimal criteria. Diabetes, hypertension, myocardial infarction and stroke, as well as currently taken medications, were assessed as self‐reports. Body mass index and serum total cholesterol were also measured. The independent risks associated with each outcome were estimated by multivariable logistic regression models adjusted for comorbidities and behavioural factors. Obesity was an independent risk factor of incident RLS in the Dortmund Health Study, and higher body mass index was an independent risk factor in both studies. Diabetes, hypertension and hypercholesterolaemia were independent predictors of incident RLS in the Study of Health in Pomerania. The vascular comorbidity index, defined by the number of concurrent cardiovascular risk factors and vascular diseases, showed a positive association with incident RLS in both studies. RLS at baseline was not a significant predictor of any subsequent cardiovascular risk factors and/or vascular diseases in any of the studies. Cardiovascular risk factors and diseases predict the subsequent development of RLS in the general population. The presence of RLS is not a significant risk factor of cardiovascular morbidity. 相似文献
16.
Magdolna Hornyak M.D. Svenja Happe Claudia Trenkwalder Sabine Scholle Bernhard Schluter Jörg Kinkelbur H. Benes B. Dietz M. Harnish J. Hellwig M. Hellwig T. Krause B. Kurella C. Meißner B. Rieger M. Schredl K. Stiasny T. Tings 《Somnologie - Schlafforschung und Schlafmedizin》2002,6(3):133-137
Summary No previous studies have explicitly addressed the issue of diagnostic criteria for restless legs syndrome (RLS) in children. Diagnosis of RLS in adults is primarily based on the patient's history. Children may exhibit and report symptoms of RLS differently from adults, depending on the child's chronological and developmental age and on the child's ability at verbal expression. Members of the study groups 'Movement Disorder' and 'Paediatrics' of the German Sleep Society have therefore elaborated a consensus proposal for diagnostic criteria of RLS in childhood by adapting and modifying the criteria of the International Restless Legs Syndrome Study Group used in adults. As minimal criteria for the diagnosis of RLS in childhood we propose: 1) The desire to move the legs is associated with sensations like discomfort or pain in the legs; 2) Increase in dysaesthesiae in the legs at rest and decrease due to motor activity; 3) The dysaesthesiae of the legs are worse during the evening and at night; 4) The child obviously suffers from the symptomatology; and 5) The symptoms described should persist for at least 6 months. Additional clinical features proposed include: 6) Sleep disturbance and its consequences; 7) Involuntary movements of the legs while awake and at rest or periodic leg movements in sleep; 8) Normal neurological examination; and 9) Positive family history. 相似文献
17.
Konrad Oexle Barbara Schormair Janina S Ried Darina Czamara Katharina Heim Birgit Frauscher Birgit H?gl Claudia Trenkwalder G Martin Fiedler Joachim Thiery Peter Lichtner Holger Prokisch Michael Specht Bertram Müller-Myhsok Angela D?ring Christian Gieger Annette Peters H-Erich Wichmann Thomas Meitinger Juliane Winkelmann 《European journal of human genetics : EJHG》2013,21(4):410-414
Restless legs syndrome (RLS) is a common multifactorial disease. Some genetic risk factors have been identified. RLS susceptibility also has been related to iron. We therefore asked whether known iron-related genes are candidates for association with RLS and, vice versa, whether known RLS-associated loci influence iron parameters in serum. RLS/control samples (n=954/1814 in the discovery step, 735/736 in replication 1, and 736/735 in replication 2) were tested for association with SNPs located within 4 Mb intervals surrounding each gene from a list of 111 iron-related genes using a discovery threshold of P=5 × 10−4. Two population cohorts (KORA F3 and F4 with together n=3447) were tested for association of six known RLS loci with iron, ferritin, transferrin, transferrin-saturation, and soluble transferrin receptor. Results were negative. None of the candidate SNPs at the iron-related gene loci was confirmed significantly. An intronic SNP, rs2576036, of KATNAL2 at 18q21.1 was significant in the first (P=0.00085) but not in the second replication step (joint nominal P-value=0.044). Especially, rs1800652 (C282Y) in the HFE gene did not associate with RLS. Moreover, SNPs at the known RLS loci did not significantly affect serum iron parameters in the KORA cohorts. In conclusion, the correlation between RLS and iron parameters in serum may be weaker than assumed. Moreover, in a general power analysis, we show that genetic effects are diluted if they are transmitted via an intermediate trait to an end-phenotype. Sample size formulas are provided for small effect sizes. 相似文献
18.
The catechol-O-methyltransferase (COMT) val158met polymorphism, which codes for the substitution of valine (val) by methionine (met) leading to a reduced COMT activity in homo- or heterozygous individuals, is associated with individual pain sensitivity and dopaminergic responses in Parkinson's disease as well as with various chronic painful diseases. Recent investigations support the notion of an alteration of the medial pain pathway as well as of the descending inhibitory control system in restless legs syndrome (RLS), that both involve dopaminergic transmission as well. Thus, the distribution of the COMT val158met polymorphism was assessed in 298 RLS patients and compared with 135 healthy controls in relation to sex, age of onset and family history. The data revealed no significant differences in the distribution of the COMT val158met polymorphism in RLS patients compared with the control group, also when the heterozygous and the homozygous group containing the 158met allele were combined. In addition, sex, age of onset and family history were not associated with the COMT val158met polymorphism in this German population of RLS patients. The present study adds to previous mostly negative investigations on the genetic determination of dopaminergic transmission in RLS, which have – so far – only detected an association of the MAO-A activity and RLS in females in a French-Canadian population. Further investigations assessing the different COMT haplotypes and experimental and clinical parameters are nevertheless warranted. 相似文献
19.
Dr. med. Juliane Winkelman Karin Eckard Bertram Müller-Myshok Thomas Gasser Claudia Trenkwalder 《Somnologie - Schlafforschung und Schlafmedizin》2002,6(1):3-6
Summary Although the symptoms of RLS have been known since centuries it was only in 1995 that common diagnostic criteria have been drawn up. Population based studies conducted a high prevalence of up to 10 % in the elderly. Up to 60 % of the patients report a positive family history. However, no gene has been mapped so far. A study on the underlying genetic model in a German population suggested an autosomal dominant mode of inheritance in early age-at-onset families. Only recently a susceptibility locus has been mapped in the French canadian population on chromosome 12. 相似文献
20.
Restless sleep disorder (RSD) is a newly described sleep disorder in children characterized by large body movements and repositioning that lasts all night with at least five body movements per hour and a significant impact on daytime behaviours. The authors have previously identified and described the syndrome and compared the sleep parameters and sleep‐related movements to those in children with restless legs syndrome, normal controls and snorers. The current study is a retrospective review of the sleep diagnosis in 300 consecutive children seen and evaluated in a single sleep disorders centre; 252 children underwent polysomnography, as clinically indicated, to identify the proper diagnosis. The current research estimates the prevalence of RSD in a sleep clinical setting to be 7.7% and compares it to the prevalence of other common sleep disorders in the same setting. Another important addition to the literature is the fact that RSD can coexist with other sleep disorders, such as habitual snoring and parasomnia, without confounding the diagnosis. 相似文献