Recent advances in the diagnosis, genetics and treatment of restless legs syndrome.

Abstract:

:Knowledge of restless legs syndrome (RLS) has greatly increased in recent years due to the many advances that have been made in diagnosis, management and genetics. Tools have been developed that facilitate the diagnosis and treatment of RLS, in particular the essential diagnostic criteria for RLS have been refined, severity scales (IRLS, RLS-6, JHSS) have been developed, as have instruments that improve diagnostic accuracy and assess for specific aspects of RLS such as augmentation. These newly developed tools have been used in recent population-based studies, which have provided a greater understanding of the epidemiology of RLS, and also within patient-based trials. As far as the genetics of RLS is concerned, linkage studies in RLS families have revealed eight loci but no causally related sequence variant has yet been identified using this approach. Recent genome-wide association studies have identified variants within intronic or intergenic regions of MEIS1, BTBD9, and MAP2K5/LBXCOR1, and PTPRD, raising new pathological hypotheses for RLS. An overview on therapeutic options and recent trials is given based on evidence-based management strategies for this common disorder.

journal_name

J Neurol

journal_title

Journal of neurology

authors

Trenkwalder C,Högl B,Winkelmann J

doi

10.1007/s00415-009-0134-9

subject

Has Abstract

pub_date

2009-04-01 00:00:00

pages

539-53

issue

4

eissn

0340-5354

issn

1432-1459

journal_volume

256

pub_type

杂志文章
  • Anti-JC virus antibody index changes in rituximab-treated multiple sclerosis patients.

    abstract::Rituximab, a monoclonal antibody to CD20, is an effective treatment for relapsing remitting multiple sclerosis (MS) reducing relapse rate by at least 50% over time. Although the mechanism for this clinical benefit is unclear, rituximab depletes circulating B cells, which can perform antigen presentation and stimulatio...

    journal_title:Journal of neurology

    pub_type: 杂志文章

    doi:10.1007/s00415-018-8996-3

    authors: Baber U,Bouley A,Egnor E,Sloane JA

    更新日期:2018-10-01 00:00:00

  • Temporal evolution of electroencephalographic abnormalities in Creutzfeldt-Jakob disease.

    abstract::Frequent serial EEG investigations of three patients with neuropathologically confirmed Creutzfeldt-Jakob disease lasting 13, 24 and 68 weeks revealed typical periodic activity of short duration with stereotyped bilateral sharp waves at the 7th, 8th, and 12th week, respectively, after the onset of symptoms. During the...

    journal_title:Journal of neurology

    pub_type: 杂志文章

    doi:10.1007/BF00328506

    authors: Schlenska GK,Walter GF

    更新日期:1989-12-01 00:00:00

  • Seasonal variation in multiple sclerosis relapse.

    abstract::Relapses are a characteristic clinical feature of multiple sclerosis (MS), but an appreciation of factors that cause them remains elusive. In this study, we have examined seasonal variation of relapse in a large population-based MS cohort and correlated observed patterns with age, sex, disease course, and climatic fac...

    journal_title:Journal of neurology

    pub_type: 杂志文章

    doi:10.1007/s00415-017-8485-0

    authors: Harding K,Tilling K,MacIver C,Willis M,Joseph F,Ingram G,Hirst C,Wardle M,Pickersgill T,Ben-Shlomo Y,Robertson N

    更新日期:2017-06-01 00:00:00

  • Fasciculation anxiety syndrome in clinicians.

    abstract::The goal of this study is to define the clinical features, pathogenesis and key investigation findings of fasciculation anxiety syndrome in clinicians (FASICS). Twenty consecutive clinicians presenting with fasciculations were prospectively assessed with serial clinical and neurophysiological evaluations. Clinicians w...

    journal_title:Journal of neurology

    pub_type: 杂志文章

    doi:10.1007/s00415-013-6856-8

    authors: Simon NG,Kiernan MC

    更新日期:2013-07-01 00:00:00

  • MRI findings of small subcortical "lacunar-like" infarction resulting from large vessel disease.

    abstract::Small subcortical infarctions resulting from large-vessel disease are often observed. It is important to distinguish these from pure lacunar infarction resulting from small-vessel disease because the investigations and examinations differ. We investigated the differences on brain magnetic resonance imaging (MRI) betwe...

    journal_title:Journal of neurology

    pub_type: 杂志文章

    doi:10.1007/s004150050584

    authors: Adachi T,Kobayashi S,Yamaguchi S,Okada K

    更新日期:2000-04-01 00:00:00

  • The utility of polysomnography for the diagnosis of NREM parasomnias: an observational study over 4 years of clinical practice.

    abstract::Polysomnography (PSG) is considered the gold standard for diagnosis of non-rapid eye movement (NREM) parasomnias, however its diagnostic yield has been rarely reported. We aimed to assess the diagnostic value of polysomnography in different categories of patients with suspected NREM parasomnia and define variables tha...

    journal_title:Journal of neurology

    pub_type: 杂志文章

    doi:10.1007/s00415-014-7578-2

    authors: Fois C,Wright MA,Sechi G,Walker MC,Eriksson SH

    更新日期:2015-02-01 00:00:00

  • New evidence for involvement of ESR1 gene in susceptibility to Chinese migraine.

    abstract::Migraine is a common and disabling nervous system disease with a significant genetic predisposition. The sex hormones play an important role in the pathogenesis of migraine. However, the conclusions of the previous genetic relation studies are conflicting. The aim of this study is to determine whether variants in gene...

    journal_title:Journal of neurology

    pub_type: 杂志文章

    doi:10.1007/s00415-016-8321-y

    authors: An X,Fang J,Lin Q,Lu C,Ma Q,Qu H

    更新日期:2017-01-01 00:00:00

  • Biomechanical response of the CNS is associated with frailty in NPH-suspected patients.

    abstract::Frailty is known to predict dementia. However, its link with neurodegenerative alterations of the central nervous system (CNS) is not well understood at present. We investigated the association between the biomechanical response of the CNS and frailty in older adults suspected of normal pressure hydrocephalus (NPH) pr...

    journal_title:Journal of neurology

    pub_type: 杂志文章

    doi:10.1007/s00415-019-09689-z

    authors: Vallet A,Del Campo N,Hoogendijk EO,Lokossou A,Balédent O,Czosnyka Z,Balardy L,Payoux P,Swider P,Lorthois S,Schmidt E

    更新日期:2020-05-01 00:00:00

  • ANO10 mutational screening in recessive ataxia: genetic findings and refinement of the clinical phenotype.

    abstract::Autosomal recessive cerebellar ataxia type 3 (ARCA3) is a rare inherited disorder caused by mutations in the ANO10 gene. The disease is characterized by slowly progressive spastic ataxia variably associated with motor neuron involvement, epilepsy, and cognitive decline. We performed mutational screening in 80 patients...

    journal_title:Journal of neurology

    pub_type: 杂志文章

    doi:10.1007/s00415-018-9141-z

    authors: Nanetti L,Sarto E,Castaldo A,Magri S,Mongelli A,Rossi Sebastiano D,Canafoglia L,Grisoli M,Malaguti C,Rivieri F,D'Amico MC,Di Bella D,Franceschetti S,Mariotti C,Taroni F

    更新日期:2019-02-01 00:00:00

  • Key emerging issues in progressive supranuclear palsy and corticobasal degeneration.

    abstract::It has been approximately 50 years since neurologists were introduced to the entities, "progressive supranuclear palsy" and "corticobasal degeneration". Since the two seminal publications, there have been significant advancements in our understanding of these two neurodegenerative diseases, particularly the fact that ...

    journal_title:Journal of neurology

    pub_type: 杂志文章,评审

    doi:10.1007/s00415-015-7682-y

    authors: Josephs KA

    更新日期:2015-03-01 00:00:00

  • Correction to: Diagnostic accuracy of a smartphone bedside test to assess the fixation suppression of the vestibulo‑ocular reflex: when nothing else matters.

    abstract::The article Diagnostic accuracy of a smartphone bedside test to assess the fixation suppression of the vestibulo‑ocular reflex: when nothing else matters, written by Florin Gandor, Manfred Tesch, Hannelore Neuhauser, Doreen Gruber, Hans‑Jochen Heinze, Georg Ebersbach and Thomas Lempert, was originally published electr...

    journal_title:Journal of neurology

    pub_type: 杂志文章,已发布勘误

    doi:10.1007/s00415-020-10035-x

    authors: Gandor F,Tesch M,Neuhauser H,Gruber D,Heinze HJ,Ebersbach G,Lempert T

    更新日期:2020-10-01 00:00:00

  • Comparison of continuous wave Doppler ultrasound of the radial artery and laser Doppler flowmetry of the fingertips with sympathetic stimulation.

    abstract::Laser Doppler is widely used to evaluate sympathetic vasoconstrictor function. Continuous wave (cw)-Doppler of the radial artery may be an alternative but less expensive approach to quantify sympathetically induced resistance changes in the peripheral vascular system. In order to compare the power of both methods, thi...

    journal_title:Journal of neurology

    pub_type: 杂志文章

    doi:10.1007/s00415-004-0471-7

    authors: Eicke BM,Milke K,Schlereth T,Birklein F

    更新日期:2004-08-01 00:00:00

  • Idiopathic dystonia: neuropharmacological study.

    abstract::A total of 15 patients affected by idiopathic dystonia (7 with generalized and 8 with focal or segmental dystonia) were subjected to therapy with bromocriptine at low doses, pimozide and trihexyphenidyl. The symptoms were evaluated by giving a progressive score in relation to the intensity of the dystonic symptom to e...

    journal_title:Journal of neurology

    pub_type: 杂志文章

    doi:10.1007/BF00313391

    authors: Girotti F,Scigliano G,Nardocci N,Angelini L,Broggi G,Giovannini P,Caraceni T

    更新日期:1982-01-01 00:00:00

  • Cognitive impairment in myotonic dystrophy type 1 (DM1): a longitudinal follow-up study.

    abstract:OBJECTIVE:To characterize the progression of the cognitive involvement in patients affected by myotonic dystrophy type 1 (DM1) by a longitudinal neuropsychological follow-up study. METHODS:In a previous study we documented an ageing-related decline of frontal and temporal cognitive functions in juvenile/adult forms of...

    journal_title:Journal of neurology

    pub_type: 杂志文章

    doi:10.1007/s00415-008-0017-5

    authors: Modoni A,Silvestri G,Vita MG,Quaranta D,Tonali PA,Marra C

    更新日期:2008-11-01 00:00:00

  • Palliative medicine training for physicians.

    abstract::In recent years, it has been widely recognised that modern doctors are not receiving the training they need to provide appropriate and effective palliative care. Deficiencies in care have been reported in several formal studies and, anecdotally, in many professional and popular lay publications. Doctors themselves hav...

    journal_title:Journal of neurology

    pub_type: 杂志文章,评审

    doi:10.1007/pl00007722

    authors: Doyle D

    更新日期:1997-10-01 00:00:00

  • The metabolic rate and vulnerability of dopaminergic neurons, and adenosine dynamics in the cerebral cortex, nucleus accumbens, caudate nucleus, and putamen of the common marmoset.

    abstract::The pathophysiology of the striatum and cerebral cortex were studied from the pharmacological aspect. Investigation of the dopamine content in the cerebral cortex revealed that the premotor and motor area showed the highest level (61+/-6.2 ng/g). Intravenous injection of 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine (M...

    journal_title:Journal of neurology

    pub_type: 杂志文章

    doi:10.1007/pl00007779

    authors: Nomoto M,Kaseda S,Iwata S,Shimizu T,Fukuda T,Nakagawa S

    更新日期:2000-09-01 00:00:00

  • Comorbidities contribute substantially to the severity of common multiple sclerosis symptoms.

    abstract:BACKGROUND:More research is needed to understand the contribution of comorbidities to MS symptomatology. OBJECTIVES:To examine the dose-response relationship between the number of comorbidities and severity of MS symptoms and to assess the relative contribution of comorbidity groups and individual comorbidities to the...

    journal_title:Journal of neurology

    pub_type: 杂志文章

    doi:10.1007/s00415-020-10192-z

    authors: Lo LMP,Taylor BV,Winzenberg T,Palmer AJ,Blizzard L,van der Mei I

    更新日期:2020-09-02 00:00:00

  • Carotid endarterectomy in patients with recurrent symptoms associated with an ipsilateral carotid artery near occlusion with full collapse.

    abstract:OBJECTIVE:Near occlusion (NO) of the internal carotid artery (ICA) with full collapse (NOFC) is a rare condition, with a prevalence of around 1%. Guidelines on carotid stenosis recommend a conservative treatment in patients with a single-event ipsilateral to a NOFC, but the optimal treatment for patients with recurrent...

    journal_title:Journal of neurology

    pub_type: 杂志文章

    doi:10.1007/s00415-018-8939-z

    authors: Meershoek AJA,Vonken EPA,Nederkoorn PJ,Kappelle LJ,de Borst GJ

    更新日期:2018-08-01 00:00:00

  • Computed tomographic angiography findings in 103 patients following vascular events in the posterior circulation: potential and clinical relevance.

    abstract::We studied the diagnostic value of computed tomographic angiography (CTA) in the posterior circulation as a noninvasive substitute for intra-arterial digital subtraction angiography (DSA). We prospectively investigated 103 patients with acute stroke in the posterior circulation. All patients underwent CTA and Doppler ...

    journal_title:Journal of neurology

    pub_type: 临床试验,杂志文章

    doi:10.1007/s004150070089

    authors: Graf J,Skutta B,Kuhn FP,Ferbert A

    更新日期:2000-10-01 00:00:00

  • Recent developments in multiple system atrophy.

    abstract::Multiple system atrophy (MSA) is a rare late onset neurodegenerative disorder which presents with autonomic failure and a complicated motor syndrome including atypical parkinsonism, ataxia and pyramidal signs. MSA is a glial alpha-synucleinopathy with rapid progression and currently poor therapeutic management. This p...

    journal_title:Journal of neurology

    pub_type: 杂志文章,评审

    doi:10.1007/s00415-009-5173-8

    authors: Wenning GK,Stefanova N

    更新日期:2009-11-01 00:00:00

  • Dexamethasone for adult community-acquired bacterial meningitis: 20 years of experience in daily practice.

    abstract:UNLABELLED:The aim of the study was to assess adjunctive intravenous dexamethasone in adult community-acquired bacterial meningitis (BM) in daily practice. Analysis of consecutive patients (1990-2009) with acute community-acquired bacterial meningitis in a single centre in Zagreb, Croatia, N = 304. Adjusted relative ri...

    journal_title:Journal of neurology

    pub_type: 杂志文章

    doi:10.1007/s00415-011-6150-6

    authors: Peterković V,Trkulja V,Kutleša M,Krajinović V,Lepur D

    更新日期:2012-02-01 00:00:00

  • [Pseudodystrophic muscle glycogenosis in adults. (Acid maltase deficiency syndrome) (author's transl)].

    abstract::A 40-year-old man suffered for 5 years from a progressive proximal myopathy mimicking an atypical limb-girdle dystrophy. A "myopathic" pattern with myotonic and pseudomyotonic discharges was determined by electromyography. Enzyme histochemical and ultrastructural investigations of muscle and liver biopsies pointed to ...

    journal_title:Journal of neurology

    pub_type: 杂志文章

    doi:10.1007/BF00312870

    authors: Gullotta F,Stefan H,Mattern H

    更新日期:1976-01-01 00:00:00

  • Impact of D-dimer levels for short-term or long-term outcomes in cryptogenic stroke patients.

    abstract:BACKGROUND:D-dimer levels are used in several clinical settings, such as in predicting venous thrombosis, cardioembolic stroke and cancer status. In the present study, we investigated the associations between plasma D-dimer levels at admission, clinical characteristics and mortality at discharge in cryptogenic stroke p...

    journal_title:Journal of neurology

    pub_type: 杂志文章

    doi:10.1007/s00415-018-8742-x

    authors: Nezu T,Kitano T,Kubo S,Uemura J,Yamashita S,Iwanaga T,Inoue T,Hosomi N,Maruyama H,Matsumoto M,Kimura K,Yagita Y

    更新日期:2018-03-01 00:00:00

  • Quantitative muscle MRI and ultrasound for facioscapulohumeral muscular dystrophy: complementary imaging biomarkers.

    abstract:OBJECTIVE:To assess the overlap of and differences between quantitative muscle MRI and ultrasound in characterizing structural changes in leg muscles of facioscapulohumeral muscular dystrophy (FSHD) patients. METHODS:We performed quantitative MRI and quantitative ultrasound of ten leg muscles in 27 FSHD patients and a...

    journal_title:Journal of neurology

    pub_type: 杂志文章

    doi:10.1007/s00415-018-9037-y

    authors: Mul K,Horlings CGC,Vincenten SCC,Voermans NC,van Engelen BGM,van Alfen N

    更新日期:2018-11-01 00:00:00

  • The distribution of magnetic resonance imaging response to interferonbeta-1b in multiple sclerosis.

    abstract::Whereas the effect of interferons (IFNs) on magnetic resonance imaging (MRI) outcome measures in patients with multiple sclerosis (MS) has been convincingly shown, little work has been done to define the between-patient heterogeneity of treatment response. Our aim was to assess the distribution of the effect of IFNbet...

    journal_title:Journal of neurology

    pub_type: 临床试验,杂志文章,多中心研究,随机对照试验

    doi:10.1007/s00415-005-0885-x

    authors: Sormani MP,Bruzzi P,Beckmann K,Kappos L,Miller DH,Polman C,Pozzilli C,Thompson AJ,Wagner K,Filippi M

    更新日期:2005-12-01 00:00:00

  • Corticobasal degeneration: key emerging issues.

    abstract::Corticobasal degeneration (CBD) was first described by Rebeiz et al. in 1967, and was called corticodentatonigral degeneration with neuronal achromasia [1]. Since then, our knowledge of the clinical features and underlying tau pathology has grown tremendously. Clinical antemortem diagnosis of CBD pathology remains cha...

    journal_title:Journal of neurology

    pub_type: 历史文章,杂志文章

    doi:10.1007/s00415-017-8644-3

    authors: Ali F,Josephs KA

    更新日期:2018-02-01 00:00:00

  • Correction to: The immediate impact of the COVID‑19 pandemic on motor neuron disease services and mortality in Scotland.

    abstract::The article The immediate impact of the COVID‑19 pandemic on motor neuron disease services and mortality in Scotland, written by Stella A. Glasmacher, Juan Larraz, Arpan R. Mehta, Patrick K. A. Kearns, Michael Wong, Judith Newton, Richard Davenport, George Gorrie, Ian Morrison, Javier Carod Artal, Siddharthan Chandran...

    journal_title:Journal of neurology

    pub_type: 已发布勘误

    doi:10.1007/s00415-020-10256-0

    authors: Glasmacher SA,Larraz J,Mehta AR,Kearns PKA,Wong M,Newton J,Davenport R,Gorrie G,Morrison I,Carod Artal J,Chandran S,Pal S,CARE-MND Consortium.

    更新日期:2020-10-20 00:00:00

  • An update on MSA: premotor and non-motor features open a window of opportunities for early diagnosis and intervention.

    abstract::In this review, we describe the wide clinical spectrum of features that can be seen in multiple system atrophy (MSA) with a focus on the premotor phase and the non-motor symptoms providing an up-to-date overview of the current understanding in this fast-growing field. First, we highlight the non-motor features at dise...

    journal_title:Journal of neurology

    pub_type: 杂志文章

    doi:10.1007/s00415-020-09881-6

    authors: Chelban V,Catereniuc D,Aftene D,Gasnas A,Vichayanrat E,Iodice V,Groppa S,Houlden H

    更新日期:2020-09-01 00:00:00

  • Immunoadsorption or plasma exchange in the treatment of autoimmune encephalitis: a pilot study.

    abstract::Therapeutic apheresis has emerged as a major treatment option for autoantibody-associated inflammatory diseases of the nervous system. This includes patients with autoimmune encephalitides caused by antibodies against neuronal proteins. Plasma exchange (PE) and immunoadsorption (IA) constitute two possibilities to eli...

    journal_title:Journal of neurology

    pub_type: 杂志文章,随机对照试验

    doi:10.1007/s00415-016-8277-y

    authors: Heine J,Ly LT,Lieker I,Slowinski T,Finke C,Prüss H,Harms L

    更新日期:2016-12-01 00:00:00

  • Lateralized microstructural changes in early-stage Parkinson's disease in anterior olfactory structures, but not in substantia nigra.

    abstract::Parkinson's disease (PD) is a progressive neurological disorder characterized by motor symptoms as well as severe deficits in olfactory function and microstructural changes in olfactory brain regions. Because of the evidence of asymmetric neuropathological features in early-stage PD, we examined whether lateralized mi...

    journal_title:Journal of neurology

    pub_type: 杂志文章

    doi:10.1007/s00415-017-8555-3

    authors: Joshi N,Rolheiser TM,Fisk JD,McKelvey JR,Schoffer K,Phillips G,Armstrong M,Khan MN,Leslie RA,Rusak B,Robertson HA,Good KP

    更新日期:2017-07-01 00:00:00