Genetics of restless legs syndrome (RLS): State-of-the-art and future directions

Winkelmann, Juliane; Polo, O.; Provini, Federica; Nevšímalová, Soňa; Kemlink, David; Šonka, Karel; Högl, Birgit; Poewe, Werner; Stiasny‐Kolster, Karin; Oertel, Wolfgang H.; Weerd, Al de; Ferini‐Strambi, Luigi; Zucconi, Marco; Pramstaller, Peter P.; Arnulf, Isabelle; Trenkwalder, Claudia; Klein, Christine; Hadjigeorgiou, Georgios M.; Happe, Svenja; Rye, David B.; Montagna, Pasquale

doi:10.1002/mds.21587

Cited by 78 publications

(44 citation statements)

References 63 publications

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“…The involvement of a major gene, with autosomal--dominant mode of transmission is evident for early--onset RLS only; while late--onset RLS appears to be compatible with a model of free transmission (Winkelmann et al 2002). In both cases, however, there is evidence for a role of a multifactorial component, with the possibility of other genetic and non--genetic factors A and B (see Winkelmann et al 2007, for a review). The link between RLS and dopaminergic transmission is perhaps not surprising given that pharmacological treatment with drugs that increase dopamine transmission alleviate symptoms (Winkelmann et al 2007).…”

Section: Restless Legs Syndrome (Rls): Rls Is Characterised By Unpleamentioning

confidence: 98%

“…In both cases, however, there is evidence for a role of a multifactorial component, with the possibility of other genetic and non--genetic factors A and B (see Winkelmann et al 2007, for a review). The link between RLS and dopaminergic transmission is perhaps not surprising given that pharmacological treatment with drugs that increase dopamine transmission alleviate symptoms (Winkelmann et al 2007). …”

Section: Restless Legs Syndrome (Rls): Rls Is Characterised By Unpleamentioning

confidence: 99%

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Sleep in Childhood and Adolescence: Age-Specific Sleep Characteristics, Common Sleep Disturbances and Associated Difficulties

Barclay¹,

Gregory²

2013

The Neurobiology of Childhood

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Sleep changes throughout the lifespan, with particularly salient alterations occurring during the first few years of life, as well as during the transition from childhood to adolescence. Such changes are partly the result of brain maturation; complex changes in the organisation of the circadian system; as well as changes in daily routine, environmental demands and responsibilities.Despite the automaticity of sleep, given that it is governed by a host of complex mechanisms, there are times when sleep becomes disturbed. Sleep disturbances in childhood are common and may stem from behavioural difficulties or abnormalities in physiological processes and, in some cases manifest into diagnosable sleep disorders. As well as occurring exclusively, childhood sleep disturbances often co--occur with other difficulties. The purpose of this chapter is to outline the neurobiology of typical sleep/wake processes, and describe changes in sleep physiology and architecture from birth to adulthood. Furthermore, common childhood sleep disorders are described as are their associations with other traits, including all of the syndromes presented in this handbook: ASDs, ADHD, schizophrenia, and emotional/ behavioural difficulties. Throughout, we attempt to explain possible mechanisms underlying these disorders and their associations.

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Section: Restless Legs Syndrome (Rls): Rls Is Characterised By Unpleamentioning

confidence: 98%

Section: Restless Legs Syndrome (Rls): Rls Is Characterised By Unpleamentioning

confidence: 99%

Sleep in Childhood and Adolescence: Age-Specific Sleep Characteristics, Common Sleep Disturbances and Associated Difficulties

Barclay¹,

Gregory²

2013

The Neurobiology of Childhood

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“…Several studies demonstrated that 50% of restless legs syndrome (RLS) patients have a positive family history and it has been suggested that RLS is a highly hereditary trait. Linkage analysis uncovered fi ve loci based on recessive (RLS1) or dominant inher itance (RLS2-RLS5) (Winkelmann et al 2007a), a recent genome-wide reported signifi cant associ ations between RLS and three genes (Winkelmann et al 2007b). Another group has discovered a variant associated with susceptibility to periodic limb movements in sleep, which was also inversely correlated with iron stores (Stefansson et al 2007).…”

Section: Population and Samplingmentioning

confidence: 99%

Association between Low Serum Ferritin and Restless Legs Syndrome in Patients with Attention Deficit Hyperactivity Disorder

Öner¹,

Dirik²,

Taner

et al. 2007

Tohoku J. Exp. Med.

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Attention defi cit hyperactivity disorder (ADHD) is a neurobehavioral disorder characterized by pervasive inattention and/or hyperactivity-impulsivity. It has been suggested that ADHD symptoms are associated with restless legs syndrome (RLS), which is a neurological condition that is defi ned by an irresistible urge to move the legs. Increasing evidence suggests iron deficiency may underlie common pathophysiological mechanisms in subjects with ADHD and with RLS. To further defi ne the relationship between iron defi ciency and RLS in children and adolescents with ADHD, we evaluated 87 ADHD subjects: 79 boys and 8 girls with age 9.3 ± 2.5 years (6-16 years). Various psychopathologies and the severity of the ADHD symptoms and serum ferritin levels were assessed. Diagnosis of RLS was made according to the International RLS Group criteria. The patients were evaluated for the iron defi ciency (ferritin < 12 ng/ml). RLS was found in 29 (33.3%) of the 87 ADHD subjects. Parentand teacher-rated behavioral and emotional problems and the severity of ADHD symptoms were not signifi cantly different between ADHD subjects with RLS and those without RLS (n = 58). The rate of iron defi ciency was signifi cantly higher in ADHD subjects with RLS (n = 6, 20.7%) when compared with ADHD subjects without RLS (n = 1, 1.7%, p = 0.005). Our results showed that depleted iron stores might increase the risk of having RLS in ADHD subjects. Iron defi ciency, which is associated with both ADHD and RLS, seems to be an important modifying factor in the relationship between these two conditions. restless legs syndrome; attention defi cit hyperactivity disorder; iron defi ciency; ferritin; dopamine

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“…There are several risk alleles found for RLS [13]. Variants in MEIS1, BTBD9, MAP2K5 / SKOR1, PTPRD, and TOX3 are associated with a significantly increased risk for RLS [13][14][15][16][17]. These alleles are in non-coding regions of the genes, and the metabolic pathways through which they confer the increased risk is only now being investigated.…”

Section: Introductionmentioning

confidence: 99%

Treatment of Restless Legs Syndrome

Comella¹

2014

Neurotherapeutics

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Restless legs syndrome (RLS) is a common disorder diagnosed by the clinical characteristics of restlessness in the legs associated often with abnormal sensations that start at rest and are improved by activity, occurring with a diurnal pattern of worsened symptoms at night and improvement in the morning. RLS is the cause of impaired quality of life in those more severely afflicted. Treatment of RLS has undergone considerable change over the last few years. Several classes of medications have demonstrated efficacy, including the dopaminergic agents and the alpha-2-delta ligands. Levodopa was the first dopaminergic agent found to be successful. However, chronic use of levodopa is frequently associated with augmentation that is defined as an earlier occurrence of symptoms frequently associated with worsening severity and sometimes spread to other body areas. The direct dopamine agonists, including ropinirole, pramipexole, and rotigotine patch, are also effective, although side effects, including daytime sleepiness, impulse control disorders, and augmentation, may limit usefulness. The alpha-2-delta ligands, including gabapentin, gabapentin enacarbil, and pregabalin, are effective for RLS without known occurrence of augmentation or impulse control disorders, although sedation and dizziness can occur. Other agents, including the opioids and clonazepam do not have sufficient evidence to recommend them as treatment for RLS, although in an individual patient, they may provide benefit.

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Genetics of restless legs syndrome (RLS): State-of-the-art and future directions

Cited by 78 publications

References 63 publications

Sleep in Childhood and Adolescence: Age-Specific Sleep Characteristics, Common Sleep Disturbances and Associated Difficulties

Sleep in Childhood and Adolescence: Age-Specific Sleep Characteristics, Common Sleep Disturbances and Associated Difficulties

Association between Low Serum Ferritin and Restless Legs Syndrome in Patients with Attention Deficit Hyperactivity Disorder

Treatment of Restless Legs Syndrome

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