Linkage analysis identifies a novel locus for restless legs syndrome on chromosome 2q in a South Tyrolean population isolate.
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Restless legs syndrome (RLS) is a common neurological condition with three loci (12q, 14q, and 9p) described so far, although none of these genes has yet been identified. We report a genomewide linkage scan of patients with RLS (n=37) assessed in a population isolate (n=530) of South Tyrol (Italy). Using both nonparametric and parametric analyses, we initially obtained suggestive evidence of a novel locus on chromosome 2q, with nominal evidence of linkage on chromosomes 5p and 17p. Follow-up genotyping yielded significant evidence of linkage (nonparametric LOD score 5.5, P+info)
Restless leg syndrome manifested by iron deficiency from chronic hemoptysis in cystic fibrosis.
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Restless leg syndrome (RLS) and periodic limb movement disorder (PLMD) are considered to be a continuum of a neurological sleep disorder associated with abnormal iron metabolism or deficiency. I describe a case of RLS and PLMD in a cystic fibrosis patient with iron deficiency from chronic hemoptysis. This is the first case that reports RLS and PLMD manifesting from iron deficiency caused by chronic hemoptysis in advanced cystic fibrosis lung disease. (+info)
Segregation analysis of restless legs syndrome: possible evidence for a major gene in a family study using blinded diagnoses.
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OBJECTIVE: The objective of this study was to ascertain the most likely inheritance pattern of restless legs syndrome (RLS) using segregation analysis. METHODS: Probands were RLS patients presenting to the Neurology and Sleep clinics of the Johns-Hopkins Bayview medical center with willing first and second degree relatives. Blinded diagnosis was made in those who exhibited the four diagnostic features of RLS. Analysis was performed on RLS as a dichotomous trait and considering age of onset models on 590 phenotyped subjects from 77 pedigrees. RESULTS: All non-genetic models were rejected considering RLS as a dichotomous trait. A single locus Mendelian dominant model with gender as a covariate had best fit with allele frequency of 0.077 and complete penetrance. RLS frequency in non-carrier subjects was estimated to be 0.14. Two underlying distributions of age of onset, with a possible dichotomy at 26.3 years, were identified. Contrary to the results for RLS as a dichotomous trait, age of onset models did not indicate single major gene inheritance. CONCLUSION: This segregation analysis suggests that the pattern of segregation is consistent with that of a single major locus, when RLS is treated as a dichotomous trait without considering age of onset. The high rate of phenocopies matches known population frequencies and taken with significant residual familial effects and the lack of evidence for a major gene controlling age of onset, indicates that non-genetic causes of RLS may exist and RLS is a complex disorder. (+info)
Genetic aspects of restless legs syndrome.
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Restless legs syndrome (RLS), also known as Ekbom syndrome, is a common movement disorder with sensorimotor symptoms occurring during sleep and quiet wakefulness. The underlying cause for RLS is unknown but genetic influences play a strong part in the pathogenesis of RLS, particularly when the condition starts at a young age. This review explores the genetic basis of RLS and related phenotypic variations. Recently, three loci showing vulnerability to RLS have been described in French-Canadian and Italian families in chromosomes 12q, 14q and 9q, emphasising on an autosomal dominant mode of inheritance. These have been labelled RLS1, RLS2 and RLS3, respectively. However, specific causative mutations remain elusive and no linkage analysis has been identified so far in the candidate genes investigated in RLS. (+info)
Medication tolerance and augmentation in restless legs syndrome: the need for drug class rotation.
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Restless legs syndrome (RLS) is a common condition characterized by an unpleasant urge to move the legs that usually occurs at night and may interfere with sleep. The medications used most commonly to treat RLS include dopaminergic drugs (levodopa, dopamine agonists), benzodiazepines, and narcotic analgesics. We report the cases of 2 patients with RLS who illustrate the problems of tolerance (declining response over time) and augmentation (a worsening of symptoms due to ongoing treatment) that can complicate the pharmacotherapy of RLS. We discuss the optimal management of RLS and propose strategies to overcome tolerance and augmentation such as a rotational approach among agents from different classes. (+info)
Factors contributing to sleep disturbance and hypnotic drug use in hemodialysis patients.
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OBJECTIVE: Sleep disturbance and the use of hypnotic medications are common in patients on hemodialysis. Factors that contribute to sleep disturbance and the use of hypnotic medications in hemodialysis patients were investigated. METHODS: With the use of a questionnaire-based survey, we examined the prevalence of symptoms that reflect sleep disorders such as insomnia, restless legs syndrome (RLS), and snoring and use of hypnotic medications in 252 hemodialysis patients. RESULTS: The overall prevalence of insomnia was 59.1%, with the prevalence of difficulty in initiating sleep (DIS), difficulty in maintaining sleep (DMS), and early morning awakening (EMA) being 47.6, 24.2, and 28.2%, respectively. Daytime sleepiness and habitual snoring were reported by 42.5 and 33.7%, respectively. The prevalence of routine use of hypnotic drugs was 25.8%. Both RLS and age were significantly associated with insomnia [odds ratio (OR), 3.75; p 0.001, OR, 1.03; p < 0.01]. RLS was a significant factor for DIS, DMS, and EMA (OR, 2.26; p < 0.05, OR, 3.44; p < 0.0005, OR, 4.25; p < 0.0005) and age was a significant factor for DMS and EMA (OR, 1.03; p = 0.053, OR, 1.05; p < 0.005). Both insomnia and snoring were associated with the use of hypnotic drugs (OR, 2.97; p < 0.001, 1.59; p=0.13). CONCLUSION: Both RLS and sleep-disordered breathing may contribute to sleep disturbance in hemodialysis patients. RLS in particular may be an important factor in insomnia, which in turn is likely responsible for the high prevalence of hypnotic drug use in hemodialysis patients. (+info)
Treatment of restless legs syndrome.
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OBJECTIVE: Restless legs syndrome is a neurological disorder characterized by a desire to move limbs, which is usually only present or worsens during rest or at night. The objective of this article was to review the available literature about pharmacological treatment for this disorder. METHOD: A search of recent literature was undertaken on online databases (Medline, Pubmed, Scielo and Lilacs). RESULTS: 502 articles were retrieved, of which 30 were selected. Dopaminergic agents, anticonvulsants, opioids, benzodiazepines, zolpidem, entacapone and ketamine were all effective on the restless legs syndrome treatment. One study showed that iron was not effective. CONCLUSIONS: Based on few double-blind, randomized, controlled trials, it seems that the best options to treat restless legs syndrome patients are gabapentin and L-dopa associated to its sustained release formulation. (+info)
Outcome of sleepiness and fatigue scores in obstructive sleep apnea syndrome patients with and without restless legs syndrome after nasal CPAP.
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BACKGROUND & PURPOSE: The association of obstructive sleep apnea syndrome (OSAS) and restless legs syndrome (RLS) has been reported in the literature for many years. Both conditions may be responsible for fatigue and somnolence complaints secondary to nocturnal sleep disruption. The primary concern of this study is to evaluate the outcome of fatigue and daytime sleepiness symptoms at baseline and after continuous positive air pressure (CPAP) treatment in OSAS patients with and without RLS. METHOD: A prospective and comparative study between a group of 13 patients with OSAS and a group of 17 patients with OSAS+RLS. Laboratory blood tests and polysomnography were performed at baseline. The Epworth Sleepiness Scale (ESS) and the Pichots questionnaire of fatigue/depression (PIC) were applied before and after 3 months of CPAP treatment. Results were compared. RESULTS: No significant differences were found on PSG and laboratory results at baseline. Both groups had similar ESS and PIC scores at baseline (p=0.73 and 0.08, respectively). After n-CPAP, OSAS+RLS patients showed higher ESS and PIC scores (p=0.017 and 0.03, respectively). CONCLUSIONS: Despite a favorable general response, n-CPAP seemed less effective in treating fatigue and sleepiness in the OSAS+RLS group. (+info)