Search results for "restless legs"
showing 10 items of 20 documents
A TRAPPC6B splicing variant associates to restless legs syndrome
2016
Abstract INTRODUCTION: RLS is a common movement disorders with a strong genetic component in its pathophysiology, but, up to now, no causative mutation has been reported. METHODS: We re-evaluated the previously described RLS2 family by exome sequencing. RESULTS: We identified fifteen variations in the 14q critical region. The c.485G > A transition of the TRAPPC6B gene segregates with the RLS2 haplotype, is absent in 200 local controls and is extremely rare in 12988 exomes from the Exome Variant Server (EVS). This variant alters a splicing site and hampers the normal transcript processing by promoting exon 3-skipping as demonstrated by minigene transfection and by patient transcripts. CON…
Restless legs syndrome: Epidemiological and clinicogenetic study in a South Tyrolean population isolate.
2006
Genetic contributions to restless legs syndrome (RLS) have been consistently recognized from population and family studies. To determine the clinical and genetic features of RLS in a population isolate and explore linkage to three previously described susceptibility loci on chromosomes 12q, 14q, and 9p, respectively, an isolated population in the South Tyrolean Alps was identified and 530 adults participated in the study. Using a two-step strategy, 47 patients with idiopathic RLS were ascertained. The prevalence in the population was 8.9%. Twenty-eight patients (59.6%) had at least one affected first-degree relative and were classified as hereditary cases. In a single extended pedigree, lin…
Association Between Restless Legs Syndrome and Adult ADHD in a German Community-Based Sample
2015
Objective: Previous research in clinical samples indicated a significant association between ADHD and restless legs syndrome (RLS). The present study examined the association between adult ADHD and RLS in the German population. Method: Self-rating instruments to assess RLS, childhood ADHD, and adult ADHD were administered to a community-based sample ( N = 1,632). In addition, current depression and anxiety, sleep disturbances, weight, and height were assessed by self-report. Results: Adult ADHD was associated with statistically significant increases in the odds of meeting diagnostic criteria for RLS even when adjusting for potential confounding variables such as weight (odds ratio [OR] = 3…
Fatigue in multiple sclerosis is closely related to sleep disorders: a polysomnographic cross-sectional study.
2011
Background: Sleep disorders can cause tiredness. The relationship between sleep disorders and fatigue in patients with multiple sclerosis (MS) has not yet been investigated systematically. Objective: To investigate the relationship between fatigue and sleep disorders in patients with MS. Methods: Some 66 MS patients 20 to 66 years old were studied by overnight polysomnography. Using a cut-off point of 45 in the Modified Fatigue Impact Scale (MFIS), the entire cohort was stratified into a fatigued MS subgroup ( n = 26) and a non-fatigued MS subgroup ( n = 40). Results: Of the fatigued MS patients, 96% ( n = 25) were suffering from a relevant sleep disorder, along with 60% of the non-fatigue…
Management of orphan symptoms: ESMO Clinical Practice Guidelines for diagnosis and treatment†
2020
### Highlights There is no clear definition of orphan symptoms. There is a group of symptoms that are seldom evaluated in most symptom assessment tools which can be considered as orphan symptoms.1 These are generally prevalent symptoms that are unaddressed in clinical practice, yet often not reported by the patients or by healthcare professionals.2 Orphan symptoms may be defined as symptoms not regularly assessed in clinical practice, and consequently little studied and not properly treated. No epidemiological or clinical studies generally exist to gauge the prevalence of the symptoms chosen; nevertheless, these symptoms are distressing for patients and their families. Orphan symptoms remai…
The RFID technology for neurosciences: feasibility of limbs' monitoring in sleep diseases.
2009
This contribution investigates the feasibility of the passive UHF RF identification technology for the wireless monitoring of human body movements in some common sleep disorders by means of passive tags equipped with inertial switches. Electromagnetic and mechanical models as well as preliminary experimentations are introduced to analyze all the significant issues concerning the required power, the tag antenna design, the read distance, and the expected biosignals collected by the interrogation device.
Genetics in restless legs syndrome
2004
Several studies on Restless leas syndrome (RLS) have suggested a substantial genetic contribution in the etiology of this sleep disorder. Clinical surveys of idiopathic RLS patients have shown that up to 60% report a positive family history. Investigations of single families with RLS have suggested an autosomal dominant mode of inheritance with variable expressivity, and some families show possible anticipation. At present, only one twin study is available, showing a high concordance rate (83.3%) between identical twins. Despite several reports suggesting a genetic contribution to the etiology of idiopathic RLS, few molecular genetic studies have been carried out attempting to identify gene…
Thermal hypoaesthesia differentiates secondary restless legs syndrome associated with small fibre neuropathy from primary restless legs syndrome.
2010
This study aimed to assess thermal and mechanical perception and pain thresholds in primary idiopathic restless legs syndrome and secondary restless legs syndrome associated with small fibre neuropathy. Twenty-one patients (age: 53.4 + or - 8.4, n = 3, male) with primary restless legs syndrome and 13 patients (age: 63.0 + or - 8.2, n = 1, male) with secondary restless legs syndrome associated with small fibre neuropathy were compared with 20 healthy subjects (age: 58.0 + or - 7.0; n = 2, male). Differential diagnosis of secondary restless legs syndrome associated with small fibre neuropathy was based on clinical symptoms and confirmed with skin biopsies in all patients. A comprehensive quan…
Genome-wide association study of motor coordination problems in ADHD identifies genes for brain and muscle function.
2012
Item does not contain fulltext OBJECTIVES: Motor coordination problems are frequent in children with attention deficit/hyperactivity disorder (ADHD). We performed a genome-wide association study to identify genes contributing to motor coordination problems, hypothesizing that the presence of such problems in children with ADHD may identify a sample of reduced genetic heterogeneity. METHODS: Children with ADHD from the International Multicentre ADHD Genetic (IMAGE) study were evaluated with the Parental Account of Children's Symptoms. Genetic association testing was performed in PLINK on 890 probands with genome-wide genotyping data. Bioinformatics enrichment-analysis was performed on highly…
Sleep Alterations in Non-demented Older Individuals: The Role of Cortisol
2017
Background: Sleep alterations can impair quality of life and contribute to disease progression but they, and their features and contributing factors, are rarely analysed in institutionalised older individuals. In this study, we investigated sleep alterations, the factors involved, and the role of cortisol in sleep-related problems in institutionalised individuals. Methods: We conducted a descriptive cross-sectional study in participants living in nursing homes in Valencia (Spain); sleep alterations were determined based on two validated tools: the Athens insomnia scale and Oviedo sleep questionnaire. Plasma cortisol was measured in the morning and determined by high performance liquid chrom…