不宁腿综合征遗传学研究进展

不宁腿综合征(Restless legs syndrome, RLS)遗传学研究近年来获得了许多重要的进展, 极大地丰富了对于这种疾病分子机制的认识。RLS是一种常见的复杂疾病, 几个遗传流行病学和双生子研究对RLS遗传组分进行了剖析, 说明RLS是一个遗传性很强的性状, 其遗传力约为50%。采用基于模型的连锁分析方法或者是不依赖于模型的连锁分析方法目前已定位了5个重要的RLS疾病连锁位点: 12q13-23, 14q13-21, 9p24-22, 2q33和20p13, 为定位克隆RLS致病基因或者易感基因提供了连锁图谱。最新基于高通量的SNPs分型平台开展的全基因组分析确立3个与RLS显著关联的区域: 6p21.2, 2p14和15q23。文章结合作者近年来从事不宁腿综合征遗传学的研究工作, 对该领域的重要成果进行了汇总和评述。     

Rifaximin antibiotic treatment for restless legs syndrome: a double-blind,placebo-controlled study

Sleep and Biological Rhythms - The purpose was to evaluate rifaximin antibiotic therapy for restless legs syndrome (RLS) patients who have small intestinal bacterial overgrowth (SIBO). Patients...     

Microstructural changes in the basal ganglia in restless legs syndrome and migraine

Sleep and Biological Rhythms -     

Therapeutic experience of deep vein thrombosis prevention system for restless legs syndrome

Sleep and Biological Rhythms - The present paper reports a case of restless legs syndrome (RLS) in which the Flowtron DVT (Huntleigh Technologies, Luton, UK) was used as a deep vein thrombosis...     

Prevalence of restless legs syndrome in pregnant women: a meta-analysis

Sleep and Biological Rhythms - Restless legs syndrome is a neuromotor problem which is more common among pregnant women. Several studies have reported different prevalences for this disorder....     

Movement disorders in sleep: Parkinson's disease and restless legs syndrome.

In recent years, sleep abnormalities have increasingly been observed in patients with movement disorders. During sleep, most patients with Parkinson's disease also exhibit the movements characteristically seen during the wake period. Movement activity during sleep may impair sleep quality and lead to daytime sleepiness and reduced quality of life. Disordered REM sleep with enhanced muscle tone is common in patients with neurodegenerative disease, and may precede the clinically evident symptoms of Parkinson's disease by years. Sleep disorders in patients with Parkinson's disease are common, and require the application of individual treatment strategies. A further frequent disorder primarily classified as a sleep disorder (dyssomnia) is the restless legs syndrome (RLS), which is closely related to the nocturnal periodic limb movement disorder and affects up to 15% of the population. The present review focuses on nocturnal motor activity and sleep in Parkinson's disease and RLS.     

Neurological disorders: towards a mechanistic understanding of restless legs syndrome

Restless legs syndrome is a curious neurological disorder of unknown aetiology. A new study has found that Drosophila mutants in the fly homologue of a human gene, BTBD9, that has been implicated as a risk factor for restless legs display important features of the syndrome.     

Association between restless legs syndrome and CLOCK and NPAS2 gene polymorphisms in schizophrenia

Previous studies have suggested that there is a genetic basis to restless legs syndrome (RLS) development. Occurrence of antipsychotic-induced RLS could also be due to differences in genetic susceptibility. We investigated whether CLOCK and NPAS2 gene polymorphisms are associated with RLS in schizophrenic patients on antipsychotics because RLS symptoms usually manifest during the evening and night. We assessed symptoms of RLS in 190 Korean schizophrenic patients on antipsychotics and divided the subjects into two groups according to the International Restless Legs Syndrome Study Group diagnostic criteria: (i) subjects who met all the criteria and (ii) the remaining subjects who did not meet all the criteria. We found a significant difference in the number of subjects with different genotype and allele carrier frequencies for the CLOCK gene (rs2412646) between the two groups (p?=?0.031 and 0.010, respectively). Distribution of CLOCK haplotypes (rs2412646–rs1801260) was significantly different between schizophrenic patients with and without RLS (p?=?0.021). However, the distributions of allelic, genotypic, and haplotypic variants of NPAS2 (rs2305160 and rs6725296) were not significantly different between the two groups. Our results suggest that CLOCK polymorphisms are associated with increased susceptibility of schizophrenic patients to RLS. We hypothesize that RLS in schizophrenia patients treated with antipsychotics may be a very mild akathisia that manifests during the night and is under control of circadian oscillation.     

The prevalence and associated risk factors of restless legs syndrome among Saudi adults

Sleep and Biological Rhythms - The aim of this cross-sectional study was to determine the prevalence, risk factors, other associated sleep disorders and commodities of Restless Legs Syndrome (RLS)...     

Frequency of impulse control behaviours associated with dopaminergic therapy in restless legs syndrome

Background  

Low doses of dopamine agonists (DA) and levodopa are effective in the treatment of restless legs syndrome (RLS). A range of impulse control and compulsive behaviours (ICBs) have been reported following the use of DAs and levodopa in patients with Parkinson's disease. With this study we sought to assess the cross-sectional prevalence of impulse control behaviours (ICBs) in restless legs syndrome (RLS) and to determine factors associated with ICBs in a population cohort in Germany.     

Treatment of the restless legs syndrome with carbamazepine: a double blind study.

One hundred and seventy four patients suffering from the restless legs syndrome were examined in a double blind, between patient, placebo controlled study in general practice for five weeks to investigate the effects of carbamazepine and placebo on the syndrome. The syndrome was more common among middle aged women with relatively low systolic blood pressure. The median haemoglobin concentration was about average for the population, but the severity of the symptoms seemed to increase with decreasing concentrations of haemoglobin. Both placebo and carbamazepine showed a significant therapeutic effect (p less than 0.01). Carbamazepine was significantly more effective than placebo (p less than or equal to 0.03). The significant therapeutic effect of placebo in restless legs showed that only double blind controlled trials can confirm the efficacy of suggested treatments.     

Erratum to: Pathogenetic heterogeneity of restless legs syndrome in Parkinson’s disease

Sleep and Biological Rhythms -