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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/30117230/improvement-of-medical-judgements-by-numerical-training-in-patients-with-multiple-sclerosis
#1
Laura Zamarian, Margarete Delazer, Rainer Ehling, Marie-Theres Pertl, Gabriel Bsteh, Johanna Wenter, Susanne Glatzl, Christian Brenneis, Thomas Benke, Thomas Berger
BACKGROUND: People with multiple sclerosis (MS) have to face important decisions with regard to their medical treatment. OBJECTIVE: To evaluate whether a targeted cognitive training reduces framing effects and thus improves medical judgements. METHODS: This was a randomised, double-blind, cross-over study enrolling relapsing-remitting MS (RRMS) patients and healthy controls (HC). Participants were randomly assigned to training order A (first week: numerical training, second week: control training) or B (reverse order)...
August 17, 2018: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/30107068/patient-s-perception-shorter-and-more-severe-prodromal-phase-in-gba-associated-pd
#2
Milan Zimmermann, Alexandra Gaenslen, Kathrin Prahl, Karin Srulijes, Ann-Kathrin Hauser, Claudia Schulte, Ilona Csoti, Daniela Berg, Kathrin Brockmann
BACKGROUND: Prevalence and time of occurrence of prodromal symptoms of Parkinson's disease (PD) in relation to the onset of classical motor manifestation varies between patients. Possible modifying factors might be different genetic architectures predisposing to varying burden of manifestations. OBJECTIVES: To characterize the prodromal phase in PD patients with heterozygous mutations in the GBA gene compared to PD patients without GBA mutation. METHODS: In a retrospective design, 151 participants (47 PD patients carrying a GBA mutation (PDGBA ), 52 idiopathic PD patients (PDidiopathic ), 52 healthy elderly (CON)) underwent a validated structured interview designed to assess prevalence and time of occurrence of prodromal symptoms...
August 14, 2018: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/30107062/beneficial-effects-of-bilateral-subthalamic-stimulation-on-alexithymia-in-parkinson-s-disease
#3
Haidar S Dafsari, K Ray Chaudhuri, Picabo Mahlstedt, Lena Sachse, Julia K Steffen, Jan Niklas Petry-Schmelzer, Till A Dembek, Paul Reker, Michael T Barbe, Veerle Visser-Vandewalle, Gereon R Fink, Lars Timmermann
BACKGROUND: In advanced Parkinson's disease (PD), subthalamic neurostimulation (STN-DBS) improves quality of life (QoL), motor, and non-motor symptoms. However, its effect on alexithymia and its relationship to other neuropsychiatric symptoms and quality of life in PD is unclear. METHODS: In this prospective, observational study of 39 PD patients undergoing STN-DBS, we examined PDQuestionnaire-8 (PDQ-8), Toronto Alexithymia Scale-20 (TAS-20), Hospital Anxiety and Depression Scale (HADS), Self-Report Manic Inventory (SRMI), Apathy Evaluation Scale (AES), Unified PD Rating Scale-activities of daily living, -motor examination, and -complications (UPDRS-II/-III/-IV), and levodopa-equivalent daily dose (LEDD) preoperatively and at 5-month follow-up...
August 14, 2018: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/30103293/visual-prognosis-in-seronegative-idiopathic-optic-neuritis-finally-elucidated-as-bad-as-that-in-anti-aqp4-ab-optic-neuritis
#4
Tetsuya Akaishi, Ichiro Nakashima
Conventionally, visual prognosis of serum anti-aquaporin-4 (AQP4) autoantibody-positive optic neuritis (ON) had been known to be much severer than other causes; thus, the visual prognosis of idiopathic ON (ION) without anti-AQP4-Ab was previously believed to be good in general. After the discovery of serum anti-myelin oligodendrocyte glycoprotein (MOG)-Ab in the majority of patients with ION, a new disease concept of anti-MOG-Ab (+) ON has been emerged and separated from the previous ION (1-3). As a result, the disease concept of ON has come to be roughly divided into the following four categories: anti-MOG-Ab (+) ON, anti-AQP4-Ab (+) ON, multiple sclerosis (MS)-related ON, and ION without serum anti-AQP4-Ab or anti-MOG-Ab: double-seronegative ION...
August 13, 2018: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/30103277/hypertension-and-heart-disease-are-associated-with-development-of-brain-atrophy-in-multiple-sclerosis-a-5-year-longitudinal-study
#5
Dejan Jakimovski, Sirin Gandhi, Ivo Paunkoski, Niels Bergsland, Jesper Hagemeier, Deepa P Ramasamy, David Hojnacki, Channa Kolb, Ralph Hb Benedict, Bianca Weinstock-Guttman, Robert Zivadinov
BACKGROUND: Cardiovascular diseases (CVDs) are more frequent in multiple sclerosis (MS) patients when compared to controls. In particular, CVDs are linked with higher accumulation of lesions and advanced brain atrophy. OBJECTIVE: To investigate whether CVDs contribute to accelerated lesion accumulation and brain atrophy over 5-years in patients with MS. METHODS: 194 MS patients and 43 controls without neurologic disease were followed for 5-years...
August 13, 2018: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/30103270/genomic-screening-of-fabry-disease-in-young-stroke-patients-the-taiwan-experience-and-a-review-of-the-literature
#6
Tsong-Hai Lee, Jen-Tsung Yang, Jiann-Der Lee, Ku-Chou Chang, Tsung-I Peng, Ting-Yu Chang, Kuo-Lun Huang, Chi-Hung Liu, Shan-Jin Ryu, Alessandro P Burlina
BACKGROUND: Fabry disease is a X-linked disease, and enzyme-based screening methods are not suitable for female patients. METHODS: Totally, 1,000 young stroke patients (18-55 y/o, 661 with ischemic stroke and 339 with hypertensive intracerebral hemorrhage) were recruited. Sequenom iPLEX assay was used to detect 26 Fabry related mutation genes. The frequency of Fabry disease in young stroke was reviewed and compared between Asian and non-Asian countries. RESULTS: Two male patients with ischemic stroke were found to have genetic mutation of IVS4+919G>A...
August 13, 2018: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/30102834/retinal-vascular-density-in-multiple-sclerosis-a-one-year-follow-up
#7
R Lanzillo, G Cennamo, M Moccia, C Criscuolo, A Carotenuto, N Frattaruolo, F Sparnelli, A Melenzane, A Lamberti, G Servillo, F Tranfa, G De Crecchio, V Brescia Morra
BACKGROUND: Vascular pathology is increasingly acknowledged as a risk factor of multiple sclerosis (MS). Vascular density (VD) is reduced in MS patients' eyes on optical coherence tomography (OCT) angiography (A). OBJECTIVE: We performed a one-year prospective study to estimate VD variations over time and possible clinical correlates. METHODS: Fifty MS patients underwent spectral domain (SD)-OCT and OCT angiography at baseline and after 1-year follow-up...
August 13, 2018: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/30102818/assessment-of-autonomic-innervation-of-the-foot-in-familial-amyloid-polyneuropathy
#8
Hela G Zouari, Sophie Ng Wing Tin, Abir Wahab, Thibaud Damy, Jean-Pascal Lefaucheur
BACKGROUND: Distal involvement of autonomic nerve fibers is critical in familial amyloid polyneuropathy (FAP) due to transthyretin (TTR) mutation. This study compares different methods for assessing autonomic foot innervation in TTR-FAP patients. METHODS: Three groups of seven TTR-FAP patients were included, according to disease severity: clinically asymptomatic, moderate, or advanced neuropathy. Autonomic investigation included EMLA test and laser doppler flowmetry (LDF) for vasomotor aspects and Sudoscan® (measuring electrochemical skin conductance, ESC) and Neuropad® test for sudomotor aspects...
August 13, 2018: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/30102816/hemodialysis-related-headache
#9
Gokcen Gozubatik-Celik, Derya Uluduz, Baki Goksan, Nazan Akkaya, Melis Sohtaoglu, Ugur Uygunoglu, Fatih Kircelli, Adem Sezen, Sabahattin Saip, Feray Karaali Savrun, Aksel Siva
BACKGROUND: Hemodialysis(HD) may have some adverse effects on the nervous system. Headache is the most commonly reported neurological symptom among HD-patients. AIM: To determine the frequency, clinical characteristics, triggering factors of HD-related headache(HRH); to evaluate preventive strategies for reducing the HRH. METHOD: 494 patients were included. Comparative controls(CC) were classified within the same patients without headache...
August 13, 2018: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/30102815/no-evidence-of-disease-activity-in-people-with-multiple-sclerosis-neda-in-pwms
#10
Monica Marta
The advances in the management of people with multiple sclerosis (pwMS) in past 12 years have been incomparable. It is now possible to prevent the relentless course of active MS much better and aim at better outcomes for our patients. Are better outcomes achieved with "no evidence of disease activity" or NEDA? What is NEDA and does it matter?. This article is protected by copyright. All rights reserved.
August 13, 2018: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/30098094/prevalence-and-phenotype-of-the-c-1529c-t-spg7-variant-in-adult-onset-cerebellar-ataxia-in-italy
#11
Cecilia Mancini, Elisa Giorgio, Anna Rubegni, Luca Pradotto, Silvia Bagnoli, Elisa Rubino, Paolo Prontera, Simona Cavalieri, Eleonora Di Gregorio, Marta Ferrero, Elisa Pozzi, Evelise Riberi, Patrizia Ferrero, Pasquale Nigro, Alessandro Mauro, Maurizio Zibetti, Alessandra Tessa, Melissa Barghigiani, Antonella Antenora, Fabio Sirchia, Silvia Piacentini, Gabriella Silvestri, Giuseppe De Michele, Alessandro Filla, Laura Orsi, Filippo Maria Santorelli, Alfredo Brusco
BACKGROUND: Hereditary Ataxias are heterogeneous groups of neurodegenerative disorders, characterized by cerebellar syndrome associated with dysarthria, oculomotor and corticospinal signs, neuropathy and cognitive impairment. Recent reports suggested mutations in the SPG7 gene, causing the most common form of autosomal recessive spastic paraplegia (MIM#607259), as a main cause of ataxias. The majority of described patients, were homozygotes or compound heterozygotes for the c.1529C>T (p...
August 11, 2018: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/30091839/cognitive-disorders-in-normal-pressure-hydrocephalus-with-initial-parkinsonism-in-comparison-with-de-novo-parkinson-s-disease
#12
Marta Picascia, Nicolò G Pozzi, Massimiliano Todisco, Brigida Minafra, Elena Sinforiani, Roberta Zangaglia, Roberto Ceravolo, Claudio Pacchetti
OBJECTIVE: The clinical differentiation between parkinsonism in idiopathic normal pressure hydrocephalus (iNPH) and Parkinson's disease (PD) remains challenging in initial phase. We addressed whether an early cognitive profiling might support the differential diagnosis of early iNPH and PD. METHODS: We retrospectively evaluated the neuropsychological tests of iNPH 40 subjects with early symptoms resembling parkinsonism with 47 "de novo" PD patients (dnPD)...
August 9, 2018: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/30063100/the-neuropsychiatric-phenotype-in-cacna1a-mutations-a-retrospective-single-center-study-and-review-of-the-literature
#13
Elisabetta Indelicato, Wolfgang Nachbauer, Elfriede Karner, Andreas Eigentler, Michaela Wagner, Iris Unterberger, Werner Poewe, Margarete Delazer, Sylvia Boesch
BACKGROUND: CACNA1A encodes the α1-subunit of the neuronal calcium channel P/Q. CACNA1A mutations underlie three allelic disorders: familial hemiplegic migraine type 1 (FHM1), episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6. A clear-cut genotype-phenotype correlation is often lacking since clinical manifestations may overlap. Several case reports have described cognitive and behavioral features in CACNA1A disorders, but studies in larger case series are lacking. METHODS: Genetically confirmed CACNA1A cases were retrieved from the database of the ataxia outpatient-clinic of the Department of Neurology at Innsbruck Medical University...
July 31, 2018: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/30051542/survival-patterns-and-cancer-determinants-in-families-with-myotonic-dystrophy-type-i
#14
Ana Best, James E Hilbert, Libby Wood, William B Martens, Nikoletta Nikolenko, Chiara Marini-Bettolo, Hanns Lochmüller, Philip S Rosenberg, Richard T Moxley, Mark H Greene, Shahinaz M Gadalla
BACKGROUND: Research indicates that DM1 are at increased risk of cancer and early death. Family data may provide insights given DM1 phenotypic heterogeneity, the broad range of non-muscular manifestations, and the usual delays in the diagnosis of DM1. METHOD: We collected family history data from 397 genetically- and/or clinically-confirmed DM1 patients (respondents) enrolled in the US or UK myotonic dystrophy registries. We calculated standardized mortality ratios for DM1 first-degree relatives (parents, siblings, and offspring) by their reported DM1 status (affected, unaffected, or unknown)...
July 27, 2018: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/30048027/effect-of-magnesium-on-cognition-after-aneurysmal-subarachnoid-haemorrhage-in-a-randomized-trial
#15
Irene M C Huenges Wajer, Sanne M Dorhout Mees, Walter M van den Bergh, Ale Algra, Johanna M A Visser-Meily, Gabriel J E Rinkel, Martine J E van Zandvoort
BACKGROUND: In randomized trials magnesium supplementation did not improve clinical outcome after aneurysmal subarachnoid haemorrhage (aSAH) on handicap scales. After aSAH, many patients have cognitive problems that may not translate into handicap. We studied the effect of magnesium on cognitive outcome after aSAH. METHODS: We studied 209 patients who had been included in the Magnesium for Aneurysmal Subarachnoid Haemorrhage (MASH-2) trial in the University Medical Centre of Utrecht...
July 26, 2018: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/30035845/patient-and-caregiver-involvement-in-formulation-of-guideline-questions-findings-from-the-ean-guideline-on-palliative-care-of-people-with-severe-multiple-sclerosis
#16
Sascha Köpke, Andrea Giordano, Simone Veronese, Anne Christin Rahn, Ingo Kleiter, Birgit Basedow-Rajwich, Arianna Fornari, Mario Alberto Battaglia, Jelena Drulovic, Liesbeth Kooij, Johan Koops, John Mens, Edwin Roger Meza Murillo, Ivan Milanov, Ron Milo, Francesco Patti, Tatjana Pekmezovic, Jaume Sastre-Garriga, Janine Vosburgh, Raymond Voltz, Jette Bay, David J Oliver, Alessandra Solari
BACKGROUND: Patient and public involvement in clinical practice guideline development is recommended to increase guideline trustworthiness and relevance. OBJECTIVE: To engage multiple sclerosis (MS) patients and caregivers in definition of the key questions to be answered in the EAN Guideline on Palliative Care of People with Severe MS. METHODS: A mixed methods approach was used: International online survey launched by the national MS societies of eight countries, after pilot testing/debriefing on 20 MS patients and 18 caregivers; focus group meetings (FGMs) of Italian and German MS patients and caregivers...
July 23, 2018: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/30035844/dystonia-diagnosis-and-management
#17
Alberto Albanese, Mario Di Giovanni, Stefania Lalli
Clinical practice in dystonia has greatly evolved in recent years: we provide here a synthetic review on patient management. Dystonia is a movement disorder characterized by sustained or intermittent muscle contractions causing abnormal, often repetitive, movements, postures, or both. A recent classification has greatly innovated clinical practice and serves as guidance for clinical assessment: Axis I describes clinical features, whereas Axis II indicates etiology. Dystonia presents with different syndromic aggregations with varied somatic involvement and some common features...
July 23, 2018: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/30035842/plasma-cell-depletion-with-bortezomib-in-the-treatment-of-refractory-nmdar-antibody-encephalitis-rational-developments-in-neuroimmunological-treatment
#18
S Keddie, S J Crisp, J Blackaby, A Cox, A Coles, M Hart, A J Church, A Vincent, M Zandi, M P Lunn
OBJECTIVE: To assess the therapeutic potential of bortezomib in treatment refractory NMDA receptor (NMDAR) antibody encephalitis and its potential in other immune mediated, B-cell driven neurological diseases. METHODS: Two cases of severe NMDAR-antibody encephalitis, resistant to first and second line therapy with steroids, IV immunoglobulins, plasma exchange, cyclophosphamide and rituximab were treated with 4 and 5 cycles of 1.3mg/m2 bortezomib at 350 and 330 days following initial presentation...
July 23, 2018: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/30035838/improving-the-quality-of-systematic-reviews-of-neurological-conditions-an-assessment-of-current-practice-and-the-development-and-validation-of-six-new-search-strategies
#19
Khai-Tuan Andrew Bui, Jacob Abdaem, Alexandra Muccilli, Genevieve C Gore, Mark R Keezer
BACKGROUND: Our aim was to study the quality of the literature search strategies used in recent systematic reviews, and to develop and assess the diagnostic accuracy of six new search strategies (i.e. hedges). METHODS: We studied six neurological conditions: migraine, stroke, dementia, epileptic seizures, Parkinson's disease, and multiple sclerosis. Two reviewers independently assessed the quality of search strategies used in systematic reviews published in 2015-2016...
July 23, 2018: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/30035829/fast-track-versus-long-term-hospitalizations-for-patients-with-non-disabling-acute-ischemic-stroke
#20
Joachim Fladt, Laurine Hofmann, Michael Coslovsky, Anna Imhof, David J Seiffge, Alex Polymeris, Sebastian Thilemann, Christopher Traenka, Raoul Sutter, Beat Schaer, Beat A Kaufmann, Nils Peters, Leo H Bonati, Stefan T Engelter, Philippe A Lyrer, Gian Marco De Marchis
BACKGROUND AND PURPOSE: We aimed to assess the feasibility and safety of fast-track hospitalizations in a selected cohort of patients with stroke. METHODS: We included patients hospitalized at the Stroke Center of the University Hospital Basel, Switzerland, with an acute ischemic stroke (AIS) confirmed on MR-DWI. Neurological deficits of the included patients were non-disabling, i.e. not interfering with activities of daily living and compatible with a direct discharge home...
July 23, 2018: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
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