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European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies

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https://www.readbyqxmd.com/read/28332297/hereditary-spastic-paraplegia-caused-by-compound-heterozygous-mutations-outside-the-motor-domain-of-the-kif1a-gene
#1
M Krenn, G Zulehner, C Hotzy, J Rath, E Stogmann, M Wagner, T B Haack, T M Strom, A Zimprich, F Zimprich
BACKGROUND AND PURPOSE: Hereditary spastic paraplegia is a clinically and genetically heterogeneous group of rare, inherited disorders causing an upper motor neuron syndrome with (complex) or without (pure) additional neurological symptoms. Mutations in the KIF1A gene have already been associated with recessive and dominant forms of hereditary spastic paraplegia (SPG30) in a few cases. METHODS: All family members included in the study were examined neurologically...
March 22, 2017: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/28332255/what-should-we-expect-from-multiple-sclerosis-therapy-results-of-an-integrated-analysis-of-delayed-release-dimethyl-fumarate-pivotal-trials
#2
EDITORIAL
R Lanzillo
No abstract text is available yet for this article.
March 22, 2017: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/28332250/visual-hallucinations-in-patients-with-acute-stroke-a-prospective-exploratory-study
#3
E Morenas-Rodríguez, P Camps-Renom, A Pérez-Cordón, A Horta-Barba, M Simón-Talero, E Cortés-Vicente, D Guisado-Alonso, E Vilaplana, C García-Sánchez, A Gironell, C Roig, R Delgado-Mederos, J Martí-Fàbregas
BACKGROUND AND PURPOSE: The incidence, underlying physiopathology, features and association with lesion topography of visual hallucinations in acute stroke have scarcely been investigated. METHODS: Patients with a diagnosis of acute stroke (ischaemic or haemorrhagic) in any vascular territory, admitted within 24 h after the onset of symptoms, were consecutively included in the study. Patients with a previous history of psychosis or cognitive impairment were excluded...
March 22, 2017: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/28328179/effect-of-delayed-release-dimethyl-fumarate-on-no-evidence-of-disease-activity-in-relapsing-remitting-multiple-sclerosis-integrated-analysis-of-the-phase-iii-define-and-confirm-studies
#4
E Havrdova, G Giovannoni, R Gold, R J Fox, L Kappos, J Theodore Phillips, M Okwuokenye, J L Marantz
BACKGROUND AND PURPOSE: Significant effects on clinical/neuroradiological disease activity have been reported in patients with relapsing-remitting multiple sclerosis treated with delayed-release dimethyl fumarate (DMF) in phase III DEFINE/CONFIRM trials. We conducted a post hoc analysis of integrated data from DEFINE/CONFIRM to evaluate the effect of DMF on achieving no evidence of disease activity (NEDA) in patients with relapsing-remitting multiple sclerosis. METHODS: The analysis included patients randomized to DMF 240 mg twice daily, placebo or glatiramer acetate (CONFIRM only) for ≤2 years...
March 22, 2017: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/28317292/pigmentation-phenotype-photosensitivity-and-skin-neoplasms-in-patients-with-myotonic-dystrophy
#5
S M Gadalla, J E Hilbert, W B Martens, S Givens, R T Moxley, M H Greene
BACKGROUND AND PURPOSE: Recent studies have suggested a possible excess risk of skin neoplasms in patients with myotonic dystrophy (DM). Risk factors related to this observation have not been defined. METHOD: Information regarding personal history of skin tumors, pigmentation phenotype, and skin reaction to sun exposure were collected from 266 DM patients who were enrolled in the US National Institutes of Health National Registry of Myotonic Dystrophy and Facioscapulohumeral Muscular Dystrophy Patients and Family Members...
March 20, 2017: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/28317289/stroke-recurrence-in-patients-with-atrial-fibrillation-concomitant-carotid-artery-stenosis-doubles-the-risk
#6
H Lehtola, K E J Airaksinen, P Hartikainen, J E K Hartikainen, A Palomäki, I Nuotio, A Ylitalo, T Kiviniemi, P Mustonen
BACKGROUND AND PURPOSE: Atrial fibrillation (AF) and significant carotid artery stenosis (CAS) often coexist in patients with acute stroke but whether CAS affects the stroke recurrence rate in anticoagulated AF patients is largely unknown. The effect of concomitant CAS on both short- and long-term prognosis after stroke in patients with AF was evaluated. METHODS: The multicentre, retrospective FibStroke registry included AF patients with an ischaemic stroke or transient ischaemic attack (TIA) during 2003-2012...
March 20, 2017: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/28295858/non-obstructive-carotid-atherosclerosis-and-patent-foramen-ovale-in-young-adults-with-cryptogenic-stroke
#7
A Jaffre, B Guidolin, J-B Ruidavets, N Nasr, V Larrue
BACKGROUND AND PURPOSE: Up to 50% of ischaemic strokes in young adults are classified as cryptogenic despite extensive work-up. We sought to evaluate the prevalence of non-obstructive carotid atherosclerosis (NOCA) and its association with patent foramen ovale (PFO) in young adults with cryptogenic stroke (CS). METHODS: Patients aged 18-54 years, consecutively treated for first-ever CS in an academic stroke service, were included. NOCA was assessed using carotid ultrasound examination and was defined as carotid plaque with <50% stenosis...
March 15, 2017: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/28294474/modulating-risky-decision-making-in-parkinson-s-disease-by-transcranial-direct-current-stimulation
#8
A Benussi, A Alberici, V Cantoni, R Manenti, M Brambilla, V Dell'Era, S Gazzina, M Manes, V Cristillo, A Padovani, M Cotelli, B Borroni
BACKGROUND AND PURPOSE: Performance on gambling tasks in Parkinson's disease (PD) is of particular interest, as pathological gambling is often associated with dopamine replacement therapy in these patients. We aimed to evaluate the effects of transcranial direct current stimulation (tDCS) over the right dorsolateral prefrontal cortex (DLPFC) in modulating gambling behaviour in PD. METHODS: We assessed the effects of cathodal tDCS over the right DLPFC during the Iowa Gambling Task in 20 patients with PD, compared with sham stimulation...
March 15, 2017: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/28261960/neurofilament-light-chain-in-cerebrospinal-fluid-and-prediction-of-disease-activity-in-clinically-isolated-syndrome-and-relapsing-remitting-multiple-sclerosis
#9
I Håkansson, A Tisell, P Cassel, K Blennow, H Zetterberg, P Lundberg, C Dahle, M Vrethem, J Ernerudh
BACKGROUND AND PURPOSE: Improved biomarkers are needed to facilitate clinical decision-making and as surrogate endpoints in clinical trials in multiple sclerosis (MS). We assessed whether neurodegenerative and neuroinflammatory markers in cerebrospinal fluid (CSF) at initial sampling could predict disease activity during 2 years of follow-up in patients with clinically isolated syndrome (CIS) and relapsing-remitting MS. METHODS: Using multiplex bead array and enzyme-linked immunosorbent assay, CXCL1, CXCL8, CXCL10, CXCL13, CCL20, CCL22, neurofilament light chain (NFL), neurofilament heavy chain, glial fibrillary acidic protein, chitinase-3-like-1, matrix metalloproteinase-9 and osteopontin were analysed in CSF from 41 patients with CIS or relapsing-remitting MS and 22 healthy controls...
March 6, 2017: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/28251720/prevalence-of-parkinson-s-disease-a-population-based-study-in-portugal
#10
J J Ferreira, N Gonçalves, A Valadas, C Januário, M R Silva, L Nogueira, J L M Vieira, A B Lima
BACKGROUND AND PURPOSE: Portugal has been identified as one of the countries with a high prevalence of LRRK2-G2019S, considered to be the most frequent known cause of familial and sporadic Parkinson's disease (PD). The aim of this study was to evaluate the prevalence of PD in Portugal using a door-to-door methodology. METHODS: A cross-sectional study was conducted in the Portuguese community-dwelling population; that is, elderly people living in the community on their own, aged ≥50 years and resident in mainland Portugal, in two phases: (i) a questionnaire was applied to screen potential cases of PD; and (ii) screened cases were evaluated by an expert in PD to confirm diagnosis...
March 2, 2017: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/28251765/factors-related-to-continuous-and-discontinuous-attendance-at-memory-clinics
#11
N Hishikawa, Y Fukui, Y Nakano, R Morihara, M Takemoto, K Sato, T Yamashita, Y Ohta, K Abe
BACKGROUND AND PURPOSE: Few studies have examined why some patients with dementia stop attending medical consultations. We conducted a retrospective study to investigate factors associated with discontinuous clinic attendance. METHODS: Participants were 988 patients with dementia from university hospital (UH) clinics and affiliated local hospital (LH) clinics. We compared continuous and discontinuous attenders on cognitive and affective functions and activities of daily living (ADL), and also compared UH and LH patients (UH: continuous, n = 176; discontinuous, n = 207; LH: continuous, n = 418; discontinuous, n = 187)...
March 1, 2017: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/28244178/evaluation-of-an-optimized-18-f-fluoro-deoxy-glucose-positron-emission-tomography-voxel-wise-method-to-early-support-differential-diagnosis-in-atypical-parkinsonian-disorders
#12
S P Caminiti, P Alongi, L Majno, M A Volontè, C Cerami, L Gianolli, G Comi, D Perani
BACKGROUND AND PURPOSE: Atypical Parkinsonian disorders (APD) frequently overlap in clinical presentations, making the differential diagnosis challenging in the early stages. The present study aimed to evaluate the accuracy of the [(18) F]fluoro-deoxy-glucose positron emission tomography Statistical Parametric Mapping (SPM) optimized procedure in supporting the early and differential diagnosis of APD. METHODS: Seventy patients with possible APD were retrospectively included from a large clinical cohort...
February 28, 2017: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/28239917/decrease-in-mortality-of-adult-epilepsy-patients-since-1980-lessons-learned-from-a-hospital-based-cohort
#13
C A Granbichler, W Oberaigner, G Kuchukhidze, J-P Ndayisaba, A Ndayisaba, A Taylor, G Bauer, G Luef, E Trinka
BACKGROUND AND PURPOSE: Data on mortality in patients with epilepsy have been available since the 1800s. They consistently show a 2-3-fold increase compared to the general population. Despite major advances in diagnostic tools and treatment options, there is no evidence for a decrease in premature deaths. The temporal trend of mortality in a hospital-based epilepsy cohort over three decades was assessed. METHODS: A hospital-based incidence cohort was recruited from a specialized epilepsy outpatient clinic at Innsbruck Medical University between 1980 and 2007, divided by decade into three cohorts and followed for 5 years after initial epilepsy diagnosis...
February 27, 2017: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/28236370/striatal-dysfunction-in-x-linked-dystonia-parkinsonism-is-associated-with-disease-progression
#14
N Brüggemann, R L Rosales, J L Waugh, A J Blood, A Domingo, M Heldmann, R D Jamora, A Münchau, T F Münte, L V Lee, I Buchmann, C Klein
BACKGROUND AND PURPOSE: X-linked dystonia-parkinsonism (XDP) is an inherited neurodegenerative adult-onset movement disorder associated with striatal atrophy. As the dopaminergic system has not yet been systemically studied in this basal ganglia model disease, it is unclear whether nigrostriatal dysfunction contributes to parkinsonism in XDP. METHODS: Pre- and post-synaptic dopaminergic function was assessed in XDP. A total of 10 (123) jod-benzamide (IBZM) single-photon emission computed tomography (SPECT) images were obtained for nine patients aged 42...
February 25, 2017: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/28236340/social-deprivation-and-stroke-severity-on-admission-a-french-cohort-study-in-burgundy-and-the-west-indies-guyana-region
#15
Y Béjot, A Guilloteau, J Joux, A Lannuzel, E Mimeau, C Mislin-Tritsch, I Fournel, C Bonithon-Kopp
BACKGROUND AND PURPOSE: Although there is growing and convincing evidence that socially deprived patients are at higher risk of stroke and worse outcomes, it remains controversial whether or not they suffer more severe stroke. This study aimed to evaluate the influence of social deprivation on initial clinical severity in patients with stroke. METHODS: A total of 1536 consecutive patients with an acute first-ever stroke (both ischaemic stroke and intracerebral hemorrhage) were prospectively enrolled from six French study centers...
February 25, 2017: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/28233435/normal-appearing-white-matter-demyelination-in-neuromyelitis-optica-spectrum-disorder
#16
I H Jeong, J Y Choi, S-H Kim, J-W Hyun, A Joung, J Lee, H J Kim
BACKGROUND AND PURPOSE: Increasing evidence suggests the presence of demyelination in the normal-appearing white matter (NAWM) of patients with neuromyelitis optica spectrum disorder (NMOSD). The objective was to determine the presence of subclinical demyelination in the NAWM of patients with NMOSD using myelin water imaging (MWI). METHODS: Whole brain and regions-of-interest (ROIs) analyses, including the centrum semiovale, corona radiata, genu and splenium of the corpus callosum, and optic radiation, were conducted in the NAWM of 28 NMOSD patients and 18 healthy controls (HCs) using two MWI modalities: conventional MWI and direct visualization of short transverse relaxation time component (ViSTa) MWI...
February 24, 2017: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/28233382/association-study-reveals-novel-risk-loci-for-sporadic-inclusion-body-myositis
#17
M Johari, M Arumilli, J Palmio, M Savarese, G Tasca, M Mirabella, N Sandholm, H Lohi, P Hackman, B Udd
BACKGROUND AND PURPOSE: The aim was to identify potential genetic risk factors associated with sporadic inclusion body myositis (sIBM). METHODS: An association based case-control approach was utilized on whole exome sequencing data of 30 Finnish sIBM patients and a control cohort (n = 193). A separate Italian cohort of sIBM patients (n = 12) was used for evaluation of the results. RESULTS: Seven single nucleotide polymorphisms were identified in five genes that have a considerably higher observed frequency in Finnish sIBM patients compared to the control population, and the previous association of the genetic human leukocyte antigen region was confirmed...
February 24, 2017: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/28229508/meditation-training-for-people-with-amyotrophic-lateral-sclerosis-a-randomized-clinical-trial
#18
F Pagnini, A Marconi, A Tagliaferri, G M Manzoni, R Gatto, V Fabiani, G Gragnano, G Rossi, E Volpato, P Banfi, A Palmieri, F Graziano, G Castelnuovo, M Corbo, E Molinari, N Riva, V Sansone, C Lunetta
BACKGROUND AND PURPOSE: Studies investigating psychological interventions for the promotion of well-being in people with amyotrophic lateral sclerosis (ALS) are lacking. The purpose of the current study was to examine the use of an ALS-specific mindfulness-based intervention for improving quality of life in this population. METHODS: A randomized, open-label and controlled clinical trial was conducted on the efficacy of an ALS-specific meditation programme in promoting quality of life...
February 23, 2017: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/28224720/pyridostigmine-bromide-versus-fludrocortisone-in-the-treatment-of-orthostatic-hypotension-in-parkinson-s-disease-a-randomized-controlled-trial
#19
S R Schreglmann, F Büchele, M Sommerauer, L Epprecht, G Kägi, S Hägele-Link, O Götze, L Zimmerli, D Waldvogel, C R Baumann
BACKGROUND AND PURPOSE: Evidence for effective treatment options for orthostatic hypotension (OH) in Parkinson's disease (PD) is scarce. Elevation of cholinergic tone with pyridostigmine bromide has been reported as a way to improve blood pressure (bp) regulation in neurogenic hypotension without causing supine hypertension. METHODS: This was a double-centre, double-blind, randomized, active-control, crossover, phase II non-inferiority trial of pyridostigmine bromide for OH in PD (clinicaltrials...
February 22, 2017: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/28224702/early-platelet-and-leukocyte-decline-in-patients-with-neuroinflammatory-disorders-after-intravenous-immunoglobulins
#20
A Totzeck, M Stettner, T Hagenacker
BACKGROUND AND PURPOSE: Intravenous immunoglobulins (IVIGs) are a common therapy in patients with neuroinflammatory disorders, especially chronic inflammatory demyelinating polyradiculoneuropathy or Guillain-Barré syndrome. Hematological toxicities upon IVIG infusion are a known side effect and still an important subject of investigation. METHODS: Laboratory results and data for clinical efficacy and tolerability of 62 patients with neuroinflammatory disorders treated with IVIG (0...
February 22, 2017: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
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