Abstract:
BACKGROUND AND PURPOSE:Fatigue and pain have been previously shown to be important determinants for decreasing quality of life (QoL) in one report in patients with non-dystrophic myotonia. The aims of our study were to assess QoL in skeletal muscle channelopathies (SMC) using INQoL (individualized QoL) and SF-36 questionnaires. METHODS:We administered INQoL and SF-36 to 66 Italian patients with SMC (26: periodic paralysis, 36: myotonia congenita and 4: Andersen-Tawil) and compared the results in 422 patients with myotonic dystrophies (DM1: 382; and DM2: 40). RESULTS:(i) INQoL index in SMC is similar to that in DMs (P = 0.79). (ii) Patients with myotonia congenita have the worst perception of QoL. (iii) Myotonia has the most detrimental effect on patients with myotonia congenita, followed by patients with DM2 and then by patients with DM1 and hyperkalemic periodic paralysis. (iv) Pain is a significant complaint in patients with myotonia congenita, hypokalemic periodic paralysis and DM2 but not in DM1. (v) Fatigue has a similar detrimental effect on all patient groups except for patients with hyperkalemic periodic paralysis in whom muscle weakness and myotonia more than fatigue affect QoL perception. (vi) Muscle symptoms considered in INQoL correlate with physical symptoms assessed by SF-36 (R from -0.34 to -0.76). CONCLUSIONS:QoL perception in patients with SMC is similar to that of patients with DMs, chronic multisystem disabling conditions. Our results provide information to target treatment and health care of these patients. The sensitivity of INQoL to changes in QoL in the SMC needs to be further explored in longitudinal studies.
journal_name
Eur J Neuroljournal_title
European journal of neurologyauthors
Sansone VA,Ricci C,Montanari M,Apolone G,Rose M,Meola G,INQoL Group.doi
10.1111/j.1468-1331.2012.03751.xsubject
Has Abstractpub_date
2012-11-01 00:00:00pages
1470-6issue
11eissn
1351-5101issn
1468-1331journal_volume
19pub_type
杂志文章abstract::We describe a case of cardiac myxoma whose clinical presentation mimicked that of polyarteritis nodosa. The serum levels of MPO-ANCA and IL-6 were elevated on laboratory investigation and normalized after the removal of the tumor. We suggest that a 'true' vasculitic mechanism contributes to the pathogenesis of pseudov...
journal_title:European journal of neurology
pub_type: 杂志文章
doi:10.1111/j.1468-1331.2005.01042.x
更新日期:2005-08-01 00:00:00
abstract:BACKGROUND AND PURPOSE:Patients suffering from basilar artery occlusion (BAO) and treated with intravenous thrombolysis are, in some centers, started on adjunct anticoagulation in hyperacute settings. We aimed to assess the outcome of such patients and to compare low-molecular weight heparin (LMWH) and unfractionated h...
journal_title:European journal of neurology
pub_type: 杂志文章
doi:10.1111/ene.13781
更新日期:2019-01-01 00:00:00
abstract:BACKGROUND AND PURPOSE:For Parkinson's disease (PD), an extended-release (ER) pramipexole formulation taken once daily, has shown efficacy, safety, and tolerability resembling those of immediate-release (IR) pramipexole taken three times daily. The present study assessed, in advanced PD, the success of an overnight swi...
journal_title:European journal of neurology
pub_type: 杂志文章,多中心研究,随机对照试验
doi:10.1111/j.1468-1331.2012.03822.x
更新日期:2013-01-01 00:00:00
abstract:BACKGROUND AND PURPOSE:Quantification of intraepidermal nerve fibers (IENFs) in skin biopsies is now the tool of choice to diagnose small fiber neuropathies. An adequate normative dataset, necessary to assess normality cutoffs, is available for brightfield microscopy but not for immunofluorescence. METHODS:Intraepider...
journal_title:European journal of neurology
pub_type: 杂志文章,多中心研究
doi:10.1111/ene.12842
更新日期:2016-02-01 00:00:00
abstract:BACKGROUND AND PURPOSE:Despite recent advances in neurogenetics that have facilitated the identification of a number of dystonia genes, many familial dystonia syndromes remain without known cause. The aim of the study was to identify the cause of autosomal dominant tremulous myoclonus-dystonia in a UK kindred with affe...
journal_title:European journal of neurology
pub_type: 杂志文章
doi:10.1111/ene.14228
更新日期:2020-08-01 00:00:00
abstract::Myelitis is one of the most severe central nervous system complications seen in association with Mycoplasma pneumoniae infections and both acute transverse myelitis (ATM) as well as acute disseminated encephalomyelitis (ADEM) have been observed. We reviewed all available literature on cases of Mycoplasma spp. associat...
journal_title:European journal of neurology
pub_type: 杂志文章,评审
doi:10.1111/j.1468-1331.2006.01174.x
更新日期:2006-02-01 00:00:00
abstract:BACKGROUND AND PURPOSE:The 'hot cross bun' sign (HCBS), typically seen in the patients with multiple system atrophy, refers to a cruciform hyperintensity in the pons on T2-weighted MRI. Little is known about its pathological basis and prevalence in other degenerative cerebellar diseases and healthy population. We inves...
journal_title:European journal of neurology
pub_type: 杂志文章
doi:10.1111/j.1468-1331.2008.02524.x
更新日期:2009-04-01 00:00:00
abstract:BACKGROUND AND PURPOSE:Dermatomyositis (DM) with anti-nuclear matrix protein-2 (NXP-2) antibodies usually shows multifocal ischaemic lesions in muscle. Here, we aimed to investigate the microarteriopathy underlying muscle ischaemia in anti-NXP-2-positive DM. METHODS:A total of 16 patients diagnosed with anti-NXP-2-pos...
journal_title:European journal of neurology
pub_type: 杂志文章
doi:10.1111/ene.14097
更新日期:2020-03-01 00:00:00
abstract:BACKGROUND:Data on the role of endogenous sex steroids in cerebrovascular disease are sparse. Estradiol is a hormone with diverse actions on the central nervous system. Our aim was to investigate the role of circulating estradiol levels in a postmenopausal acute stroke population. METHODS:During a time-period of 2 yea...
journal_title:European journal of neurology
pub_type: 杂志文章
doi:10.1111/j.1468-1331.2012.03714.x
更新日期:2012-10-01 00:00:00
abstract:BACKGROUND AND PURPOSE:Although erenumab has demonstrated significant reduction in migraine frequency and improved quality of life in studies lasting 3 to 12 months, little is known about long-term therapy. METHODS:This study was an open-label, 5-year treatment phase following a 12-week, double-blind, placebo-controll...
journal_title:European journal of neurology
pub_type: 杂志文章
doi:10.1111/ene.14715
更新日期:2021-01-05 00:00:00
abstract:BACKGROUND AND PURPOSE:Recent studies have demonstrated that Alzheimer's disease (AD) and subcortical vascular dementia (SVaD) have white matter (WM) microstructural changes. However, previous studies on AD and SVaD rarely eliminated the confounding effects of patients with mixed Alzheimer's and cerebrovascular disease...
journal_title:European journal of neurology
pub_type: 杂志文章
doi:10.1111/ene.12645
更新日期:2015-04-01 00:00:00
abstract::An evaluation of general antiepileptic treatment patterns and utilization of particular drugs was carried out based on the prevalence study of adult active epilepsy in a sample of the Estonian population. The antiepileptic drugs (AEDs) used, and their doses were recorded and compared with clinical characteristics. Nin...
journal_title:European journal of neurology
pub_type: 杂志文章
doi:10.1111/j.1468-1331.2006.01268.x
更新日期:2006-05-01 00:00:00
abstract:BACKGROUND AND PURPOSE:There is limited data of neurovascular coupling on stroke patients, especially on comparison of different etiologies. We aim to test the hypothesis that patients with small vessel disease (SVD) are impaired on neurovascular coupling rather than stroke patient with large intracranial artery stenos...
journal_title:European journal of neurology
pub_type: 杂志文章
doi:10.1111/j.1468-1331.2010.03262.x
更新日期:2011-05-01 00:00:00
abstract:BACKGROUND AND PURPOSE:To assess the efficacy and safety of olesoxime, a molecule with neuroprotective properties, in patients with amyotrophic lateral sclerosis (ALS) treated with riluzole. METHODS:A double-blind, randomized, placebo-controlled, multicenter trial of 18 months' duration was conducted in 512 subjects, ...
journal_title:European journal of neurology
pub_type: 杂志文章,随机对照试验
doi:10.1111/ene.12344
更新日期:2014-03-01 00:00:00
abstract:BACKGROUND AND PURPOSE:Action tremor may occur in patients with Parkinson's disease and cause misdiagnosis with other movement disorders such as essential tremor and dystonia. Data on the frequency of action tremor in Parkinson's disease and on the relationships with other motor and non-motor signs are limited. METHOD...
journal_title:European journal of neurology
pub_type: 杂志文章
doi:10.1111/ene.12583
更新日期:2015-02-01 00:00:00
abstract::In a previous, controlled study we demonstrated that the general lower limb activity measured by three-channel actometry is a promising objective measure of restless legs syndrome (RLS) severity. In the present study we have further evaluated the method in measuring RLS symptom severity in an open, single-day pramipex...
journal_title:European journal of neurology
pub_type: 临床试验,杂志文章
doi:10.1111/j.1468-1331.2004.00960.x
更新日期:2005-05-01 00:00:00
abstract:BACKGROUND AND PURPOSE:Patients with the cerebellar variant of multiple system atrophy (MSA-C) often show cognitive deficits in various cognitive domains. The association between morphometric changes in cortical and subcortical structures and cognitive impairments in MSA-C were investigated to explore the neural correl...
journal_title:European journal of neurology
pub_type: 杂志文章
doi:10.1111/ene.12796
更新日期:2016-01-01 00:00:00
abstract:BACKGROUND AND PURPOSE:Our aim was to identify early imaging surrogate markers of clinical progression in patients after the first demyelinating event suggestive of multiple sclerosis treated with weekly intramuscular interferon β-1a. In a prospective observational study, the predictive role of baseline and 6-month cha...
journal_title:European journal of neurology
pub_type: 杂志文章
doi:10.1111/ene.12716
更新日期:2015-07-01 00:00:00
abstract:INTRODUCTION:Limited information is available about the impact of seizures on stroke outcome, health care delivery and resource utilization. OBJECTIVE:To determine whether the presence of seizures after stroke increases disability, mortality and health care utilization (length of hospital stay, ICU admission, consults...
journal_title:European journal of neurology
pub_type: 杂志文章,多中心研究
doi:10.1111/j.1468-1331.2009.02739.x
更新日期:2010-01-01 00:00:00
abstract:BACKGROUND AND PURPOSE:Dimethyl fumarate (DMF) causes a mean lymphocyte count drop of approximately 30% in relapsing-remitting multiple sclerosis (RRMS) patients. The relationship between this reduction and DMF effectiveness is controversial. The objective was to investigate if the decrease in absolute lymphocyte count...
journal_title:European journal of neurology
pub_type: 杂志文章
doi:10.1111/ene.14538
更新日期:2021-01-01 00:00:00
abstract::Four hundred and sixty records of patients with primary torsion dystonia (296 women and 164 men) were evaluated. The mean age at disease onset was 48.3 +/- 17.7 years; 13 patients carried the DYT1 CAG deletion. The distribution of age at onset was represented by a bi-modal curve, with a nadir at 21 year separating ear...
journal_title:European journal of neurology
pub_type: 杂志文章
doi:10.1111/j.1468-1331.2006.01387.x
更新日期:2006-10-01 00:00:00
abstract:BACKGROUND:We investigated whether the prevalence of primary headaches was higher in patients with primary Sjøgren's syndrome (PSS) than in healthy individuals. METHODS:This retrospective cohort study included 71 patients with PSS (patients) based on the American European Consensus Classification criteria, and 71 age-...
journal_title:European journal of neurology
pub_type: 杂志文章
doi:10.1111/ene.12033
更新日期:2013-03-01 00:00:00
abstract:BACKGROUND AND PURPOSE:In a longitudinal population-based dataset of patients with multiple sclerosis (MS), we have previously observed a substantial increase in the female to male sex ratio in Canada over the last 50 years. Here, we aimed to determine whether this change in sex ratio is related to the clinical course ...
journal_title:European journal of neurology
pub_type: 杂志文章
doi:10.1111/j.1468-1331.2009.02850.x
更新日期:2010-04-01 00:00:00
abstract::Cortical excitability of the primary motor cortex is altered in patients with Parkinson's disease (PD). Therefore, modulation of cortical excitability by high frequency repetitive transcranial magnetic stimulation (rTMS) of the motor cortex might result in beneficial effects on motor functions in PD. The present study...
journal_title:European journal of neurology
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1046/j.1468-1331.2003.00649.x
更新日期:2003-09-01 00:00:00
abstract::In recent years, a number of potential new therapeutic indications of botulinum toxin injections have emerged, amongst which sialorrhea has attracted considerable attention. Based on open-label and controlled studies, botulinum toxin can be used to improve sialorrhea in patients with Parkinson's disease, parkinsonian ...
journal_title:European journal of neurology
pub_type: 杂志文章,评审
doi:10.1111/j.1468-1331.2006.01447.x
更新日期:2006-02-01 00:00:00
abstract:BACKGROUND AND PURPOSE:To evaluate the incidence and predictors of ischaemic recurrent stroke and the adverse events of antithrombotic therapy in patients with first intra- or extracranial vertebral artery dissection (VAD) who were treated with aspirin or oral anticoagulation (OA). METHODS:A 21-year database of consec...
journal_title:European journal of neurology
pub_type: 杂志文章
doi:10.1111/j.1468-1331.2012.03825.x
更新日期:2013-01-01 00:00:00
abstract:BACKGROUND AND PURPOSE:Whether the neuromelanin-positive substantia nigra pars compacta area (NM-SNc) on neuromelanin magnetic resonance imaging (NM-MRI) and the specific binding ratio (SBR) on 123 I-N-v-fluoropropyl-2b-carbomethoxy3b-(4-iodophenyl)nortropane single photon emission computed tomography (DaT-SPECT) can b...
journal_title:European journal of neurology
pub_type: 杂志文章
doi:10.1111/ene.14009
更新日期:2019-11-01 00:00:00
abstract:BACKGROUND AND PURPOSE:The National Institute for Health and Care Excellence (NICE) in the UK recommends the use of OnabotulinumtoxinA (BoNTA, Botox® ) in the management of chronic migraine (CM) following specific guidelines within the National Health Service. In view of the lack of data on the efficacy of this therapy...
journal_title:European journal of neurology
pub_type: 杂志文章
doi:10.1111/ene.13657
更新日期:2018-08-01 00:00:00
abstract::This report discusses a biopsy proven case of cerebral amyloid angiopathy, with additional prominent vascular inflammatory features, characterized by a rapidly progressive dementia and leukoencephalopathy, where the clinical and radiological abnormalities resolved rapidly with minimal therapeutic intervention. We prop...
journal_title:European journal of neurology
pub_type: 杂志文章
doi:10.1046/j.1351-5101.2003.00707.x
更新日期:2004-01-01 00:00:00
abstract::We aimed to carry out a study of isolated, unexplained myelopathy which avoided as far as possible selection and referral bias. We used a prospective design with case ascertainment from both neurological and neurosurgical referrals. We wanted to establish the sensitivity, predictive value and possible redundancy of cu...
journal_title:European journal of neurology
pub_type: 杂志文章
doi:10.1111/j.1468-1331.1995.tb00131.x
更新日期:1995-09-01 00:00:00