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

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https://read.qxmd.com/read/30891880/-cag-n-loci-as-genetic-modifiers-of-age-at-onset-in-patients-with-spinocerebellar-ataxia-type-1-from-mainland-china
#1
Puzhi Wang, Zhao Chen, Yun Peng, Li Cao, Xunhua Li, Chunrong Wang, Huihua Yang, Huirong Peng, Yuting Shi, Xin Zhou, Tianjiao Li, Li Feng, Chao Wu, Rong Qiu, Kun Xia, Beisha Tang, Hong Jiang
BACKGROUND: The expanded repeat length in ATXN1 negatively correlates with age at onset (AAO) of SCA1 but can explain only part of it, indicating that other factors affect AAO. Some studies have explored the influence of non-causative CAG repeats on the AAO of SCA patients. However, studies on Chinese SCA1 patients regarding candidate modifier factors involved in the variability in AAO are rare. METHODS: We enrolled 152 Chinese SCA1 patients who were genotyped for ATXN1 and nine other (CAG)n -containing genes...
March 19, 2019: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://read.qxmd.com/read/30884027/urogenital-symptoms-in-mitochondrial-disease-overlooked-and-undertreated
#2
Olivia V Poole, Tomoyuki Uchiyama, Iwona Skorupinska, Mariola Skorupinska, Louise Germain, Damian Kozyra, Sarah Holmes, Natalie James, Enrico Bugiardini, Cathy Woodward, Rosaline Quinlivan, Anton Emmanuel, Michael G Hanna, Jalesh N Panicker, Robert D S Pitceathly
BACKGROUND: Bowel symptoms are well documented in mitochondrial disease. However, data concerning other pelvic organs is limited. We have undertaken a large, case-control study to determine the presence of lower urinary tract symptoms (LUTS) and sexual dysfunction in adults with genetically confirmed mitochondrial disease. METHODS: Adults with genetically confirmed mitochondrial disease and control subjects were recruited from a specialist mitochondrial clinic. The presence and severity of LUTS and their impact on quality of life, in addition to sexual dysfunction and bowel symptoms, were captured using four validated questionnaires...
March 18, 2019: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://read.qxmd.com/read/30882969/conduction-block-in-immune-mediated-neuropathy-paranodopathy-versus-axonopathy
#3
Nidhi Garg, Susanna B Park, James Howells, Steve Vucic, Con Yiannikas, Emily K Mathey, Toan Nguyen, Yu-Ichi Noto, Michael H Barnett, Arun V Krishnan, Judith Spies, Hugh Bostock, John D Pollard, Matthew C Kiernan
BACKGROUND: Conduction block is a pathognomonic feature of immune-mediated neuropathies. The aim of this study was to advance understanding of pathophysiology and conduction block in chronic inflammatory demyelinating polyneuropathy (CIDP) and multifocal motor neuropathy (MMN). METHODS: A multimodal approach was used, incorporating clinical phenotyping, neurophysiology, immunohistochemistry and structural assessments. RESULTS: Of 49 CIDP and 14 MMN patients, 25% and 79% had median nerve forearm block, respectively...
March 18, 2019: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://read.qxmd.com/read/30868681/associations-of-various-blood-pressure-parameters-with-functional-outcomes-after-endovascular-thrombectomy-in-acute-ischemic-stroke
#4
Bang-Hoon Cho, Joon-Tae Kim, Ji Sung Lee, Man-Seok Park, Kyung-Wook Kang, Kang-Ho Choi, Seung-Han Lee, Seong-Min Choi, Byeong C Kim, Myeong-Kyu Kim, Ki-Hyun Cho
BACKGROUND: High blood pressure (BP) at presentation is associated with poor outcomes in acute ischemic stroke (AIS), but serial BP measurements may better delineate the clinical implications of BP. We aimed to investigate the association between various BP parameters and functional outcomes in AIS patients treated with endovascular thrombectomy (EVT). METHODS: This study reports a retrospective analysis of a prospective registry of a comprehensive stroke center...
March 13, 2019: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://read.qxmd.com/read/30860637/ean-guideline-on-trigeminal-neuralgia
#5
Lars Bendtsen, Joanna Maria Zakrzewska, Jillie Abbott, Mark Braschinsky, Giulia Di Stefano, Anne Donnet, Per Kristian Eide, Paulo Roberto Lacerda Leal, Stine Maarbjerg, Arne May, Turo Nurmikko, Mark Obermann, Troels Staehlin Jensen, Giorgio Cruccu
BACKGROUND: Trigeminal neuralgia (TN) is an extremely painful condition, which can be difficult to diagnose and treat. In Europe, TN-patients are managed by many different specialities. Therefore, there is a great need for comprehensive European guidelines for management of TN. The European Academy of Neurology asked an expert panel to develop recommendations for a series of questions that are essential for daily clinical management of patients with TN. METHODS: We performed a systematic review of the literature and developed recommendations based on GRADE, where feasible, if not a good practice statement was given...
March 12, 2019: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://read.qxmd.com/read/30793464/safety-and-efficacy-of-tirofiban-combined-with-endovascular-treatment-in-acute-ischemic-stroke
#6
Xiding Pan, Danni Zheng, Yufen Zheng, Phoebe Wing Lam Chan, Yapeng Lin, Jianjun Zou, Junshan Zhou, Jie Yang
BACKGROUND: Tirofiban is off-label used in clinical practice for acute ischemic stroke (AIS). However, whether tirofiban increases the bleeding risk or improves the outcome of endovascular treatment (EVT) in AIS is unknown. This study evaluated the efficacy and safety of tirofiban in combination with EVT for AIS. METHODS: Consecutive AIS patients receiving EVT were included in the prospective stroke registry from 2015 to 2018. The efficacy outcomes were modified Rankin Scale (mRS) at 3 months and National Institutes of Health Stroke Scale (NIHSS) score at 24 hours...
February 21, 2019: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://read.qxmd.com/read/30793440/oxidative-lipoprotein-markers-predict-poor-functional-outcome-in-patients-with-minor-stroke-or-transient-ischemic-attack
#7
Anxin Wang, Xinmiao Zhang, Shiyu Li, Xingquan Zhao, Liping Liu, S Claiborne Johnston, Xia Meng, Jinxi Lin, Yingting Zuo, Hao Li, Yilong Wang, Yongjun Wang
BACKGROUND AND PURPOSE: Oxidative stress plays an important role in acute ischemic stroke. However, the association of oxidative lipoprotein markers, including oxidized low-density lipoprotein (oxLDL), oxLDL/ high density lipoprotein (HDL), and oxLDL/ low density lipoprotein (LDL), with functional outcome of minor stroke or transient ischemic attack (TIA) remains unclear. We aimed to investigate the association between oxidative lipoprotein markers and poor functional outcome in patients with minor stroke or TIA...
February 21, 2019: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://read.qxmd.com/read/30793437/clinical-neuroimaging-and-prognostic-study-of-127-cases-with-infarction-of-the-corpus-callosum
#8
Xu Sun, Jiasi Li, Cunxiu Fan, Hailing Zhang, Yu Si, Xu Fang, Yibin Guo, John H Zhang, Tao Wu, Suju Ding, Xiaoying Bi
BACKGROUND AND PURPOSE: To investigate retrospectively clinical and neuroimaging characteristics in the largest sample size of patients with corpus callosum infarction up to now, and then follow up for 1year to obtain the prognosis of this rare stroke entity. METHODS: 127 patients with acute callosal infarction of 5584 patients with acute ischemic stroke were included in this study. The recruited patients were divided into pure callosal infarction group and complex callosal infarction group (coupled with other infarct locations simultaneously) and clinical and neuroimaging features were analyzed...
February 21, 2019: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://read.qxmd.com/read/30793434/iv-thrombolysis-in-stroke-mimics-results-from-the-sits-international-stroke-thrombolysis-register-sits-istr
#9
Boris Keselman, Charith Cooray, Geert Vanhooren, Pietro Bassi, Domenico Consoli, Paolo Nichelli, Andre Peeters, Daniel Sanak, Andrea Zini, Nils Wahlgren, Niaz Ahmed, Michael V Mazya
BACKGROUND AND PURPOSE: Patients with stroke mimics, conditions with stroke-like symptoms, may risk harm if treated with intravenous thrombolysis (IVT). Current guidelines state low risk of intracranial hemorrhage (ICH) based on studies comprising a total of <400 stroke mimic cases. We aimed to compare safety and outcomes following IVT between patients with acute ischemic stroke and mimicking conditions. METHODS: We included IVT-treated ischemic stroke patients in the SITS International Stroke Thrombolysis Registry (SITS-ISTR) 2003-2017, examined with MRI 22-36 hours after treatment...
February 21, 2019: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://read.qxmd.com/read/30793432/clinical-applicability-of-diagnostic-biomarkers-in-early-onset-cognitive-impairment
#10
Neus Falgàs, Adrià Tort-Merino, Mircea Balasa, Sergi Borrego, Magdalena Castellví, Jaume Olives, Beatriz Bosch, Guadalupe Fernández, Anna Antonell, Josep Maria Augé, Francisco Lomeña, Andrés Perissinotti, Núria Bargalló, Raquel Sánchez-Valle, Albert Lladó
BACKGROUND: Several diagnostic biomarkers are currently available for its clinical use in early onset cognitive impairment. The decision of which biomarker is used in each patient depends on several factors such as its predictive value or tolerability. METHODS: Forty subjects with early onset cognitive complaints (<65 years): 26 with Alzheimer's disease (AD), 5 with fronto-temporal dementia and 9 with non-neurodegenerative disorder diagnostic suspicion. Clinical, neuropsychological evaluation, lumbar puncture (LP) for cerebrospinal fluid (CSF) AD core biochemical markers determination, medial temporal atrophy evaluation on MRI, amyloid-PET and FDG-PET were performed...
February 21, 2019: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://read.qxmd.com/read/30793428/the-minimum-clinically-important-difference-mcid-which-direction-to-take
#11
Thomas H P Draak, Bianca T A de Greef, Catharina G Faber, Ingemar S J Merkies
Over the past decades in modern medicine, there has been a shift from statistical significance to clinical relevance when it comes to interpreting results from clinical trials. A concept that is increasingly being used as a surrogate for clinical relevance and effect size calculation is the minimum clinically important difference (MCID). In this paper, we will present an overview of the most important aspects of the MCID concept used in research trials and we will discuss what this means for the neurological patient in clinical trials and daily practice...
February 21, 2019: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://read.qxmd.com/read/30790403/tau-positron-emission-tomography-imaging-in-c9orf72-repeat-expansion-carriers
#12
Cindy V Ly, Lauren Koenig, Jon Christensen, Brian Gordon, Helen Beaumont, Sonika Dahiya, Jie Chen, Yi Su, Brittany Nelson, Jennifer Jockel-Balsarotti, Caroline Drain, Gina Jerome, John C Morris, Anne M Fagan, Matthew B Harms, Tammie Ls Benzinger, Timothy M Miller, Beau M Ances
BACKGROUND AND PURPOSE: AV-1451 (18 F-AV-1451, flortaucipir) positron emission tomography (PET) was performed in C9orf72 expansion carriers to assess tau accumulation and disease manifestation. METHODS: Nine clinically characterized C9orf72 expansion carriers and 18 age- and gender- matched cognitively normal individuals were psychometrically evaluated and underwent tau PET imaging. Regional AV-1451 standard uptake value ratio (SUVR) from multiple brain regions was analyzed...
February 20, 2019: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://read.qxmd.com/read/30770613/healthier-rhythm-healthier-brain-integrity-of-circadian-melatonin-and-temperature-rhythms-relates-to-the-clinical-state-of-brain-injured-patients
#13
Christine Blume, Monika Angerer, Marion Raml, Renata Del Giudice, Nayantara Santhi, Gerald Pichler, Alexander B Kunz, Monika Scarpatetti, Eugen Trinka, Manuel Schabus
INTRODUCTION: Healthy circadian rhythmicity has been suggested to relate to a better state of brain-injured patients and to support the emergence of consciousness in patient groups characterised by a relative instability thereof such as patients with disorders of consciousness (DOC). METHODS: Going beyond earlier studies, we have adopted a systems-level perspective and, using multilevel modelling, assessed the joint predictive value of three indexes of circadian rhythm integrity derived from skin temperature variations, melatoninsulfate (aMT6s) secretion, and physical activity (wrist actigraphy) patterns for DOC patients' (13 unresponsive wakefulness syndrome [UWS]; 7 minimally conscious (exit) state [E/MCS]) behaviourally assessed state (Coma Recovery Scale-Revised [CRS-R] score)...
February 15, 2019: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://read.qxmd.com/read/30770596/abnormal-%C3%AE-synuclein-deposits-in-skin-nerves-intra-and-inter-laboratory-reproducibility
#14
V Donadio, K Doppler, A Incensi, A Kuzkina, A Janzen, G Mayer, J Volkmann, G Rizzo, E Antelmi, G Plazzi, C Sommer, R Liguori, W H Oertel
BACKGROUND: Visualization of phosphorylated α-synuclein at serine 129 (p-syn) in skin nerves is a promising test for the in vivo diagnosis of synucleinopathies. Here we aimed to establish the intra- and inter-laboratory reproducibility of quantification of intraneural p-syn immunoreactivity in two laboratories with a major expertise (Würzburg and Bologna). METHODS: We enrolled 43 patients affected by Parkinson's disease (PD: 21 patients), Dementia with Lewy Body (DLB: 1), REM sleep behavior disorder (RBD: 11), Multiple System Atrophy (MSA-P: 4) and small fiber neuropathy (SFN: 6)...
February 15, 2019: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://read.qxmd.com/read/30762259/natalizumab-rituximab-and-fingolimod-as-escalation-therapy-in-multiple-sclerosis
#15
Malin Boremalm, Alexander Juto, Markus Axelsson, Lenka Novakova, Thomas Frisell, Anders Svenningsson, Jan Lycke, Fredrik Piehl, Jonatan Salzer
BACKGROUND AND PURPOSE: Breakthrough disease on first line injectables in relapsing-remitting multiple sclerosis (RRMS) is a common clinical situation where so far comparative studies between different escalation therapies are lacking. The aim of this study was to compare the efficacy, safety and medication persistence of natalizumab, rituximab and fingolimod as escalation therapy in RRMS METHODS: Patients switching from interferon or glatiramer acetate (INF/GA) to natalizumab, rituximab or fingolimod due to breakthrough disease were identified through the Swedish MS registry at four large MS centers in this retrospective observational study...
February 14, 2019: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://read.qxmd.com/read/30761708/axonal-water-fraction-as-marker-of-white-matter-injury-in-primary-progressive-multiple-sclerosis-a-longitudinal-study
#16
Monica Margoni, Maria Petracca, Simona Schiavi, Michelle Fabian, Aaron Miller, Fred D Lublin, Matilde Inglese
BACKGROUND: Diffuse white matter (WM) injury is prominent in primary progressive multiple sclerosis (PP-MS) pathology and is a potential biomarker of disease progression. Diffusion Kurtosis Imaging (DKI) allows the quantification of non-Gaussian water diffusion, providing metrics with high WM pathological specificity. OBJECTIVE: To characterize the pathological changes occurring in the normal appearing white matter (NAWM) of patients with PP-MS at baseline and at 1-year follow-up and to assess their impact on disability and short-term disease progression...
February 13, 2019: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://read.qxmd.com/read/30748058/uveitis-and-optic-perineuritis-in-the-context-of-myelin-oligodendrocyte-glycoprotein-antibody-seropositivity
#17
Sudarshini Ramanathan, Clare Fraser, Sarah R Curnow, Mina Ghaly, Richard J Leventer, Jeanette Lechner-Scott, Andrew Henderson, Stephen Reddel, Russell C Dale, Fabienne Brilot
BACKGROUND: Antibodies to myelin oligodendrocyte glycoprotein (MOG) have been identified in both children and adults with demyelination, with a strong association with bilateral or recurrent optic neuritis (ON). However, the full clinical spectrum of this newly described condition is unknown. We sought to describe non-ON inflammatory ophthalmological presentations such as uveitis and optic perineuritis in the context of MOG antibody seropositivity. METHODS: Using a live cell-based assay analysed by flow cytometry, we identified seropositive patients referred for MOG antibody testing in Australasia between 2014-2017...
February 12, 2019: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://read.qxmd.com/read/30748047/acute-endovascular-reperfusion-treatment-in-patients-with-ischemic-stroke-and-large-vessel-occlusion-denmark-2011-2017
#18
Thomas Truelsen, Klaus Hansen, Grethe Andersen, Leif Sørensen, Charlotte Madsen, Anabel Diaz, Trine Stavngaard, Heidi H Hundborg, Joan Højgaard, Niels Hjort, Helle K Iversen, Søren P Johnsen, Claus Z Simonsen
BACKGROUND: Acute endovascular reperfusion treatment (aERT) of stroke patients with large vessel occlusions (LVO) is efficacious and safe according to several clinical trials. Data on outcome and safety of aERT in daily clinical routine is warranted, and in this study we present national data from Denmark 2011 -2017. METHODS: National data for Denmark from 2011 through 2017 on all aERT procedures in patients with acute ischemic stroke and CTA/MRA verified LVO. Data were derived from the Danish Stroke Registry (DRS), a national clinical quality registry to which reporting is mandatory for all hospitals treating stroke patients...
February 12, 2019: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://read.qxmd.com/read/30742740/association-between-remote-diffusion-weighted-imaging-lesions-and-cerebral-small-vessel-disease-in-primary-intracerebral-hemorrhage
#19
Xu-Hua Xu, Xiang-Hua Ye, Jia-Wen Li, Jin-Song Cai, Ting Gao, Wen-Ji Zhang, Guo-Hua Zhao, Lu-Sha Tong, Feng Gao
BACKGROUND AND PURPOSE: The aim of this study was to examine the association among remote diffusion-weighted imaging lesions (R-DWILs), imaging markers of cerebral small vessel disease (cSVD), and total cSVD burden in patients with primary intracerebral hemorrhage (ICH). METHODS: Three hundred and forty-four consecutive primary ICH patients were enrolled prospectively. R-DWILs on magnetic resonance imaging (MRI), as well as four imaging markers of cSVD, including cerebral microbleeds (CMBs), white matter hyperintensities (WMHs), lacunes, and enlarged perivascular spaces (EPVS) were rated with validated scales...
February 11, 2019: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://read.qxmd.com/read/30735286/the-structural-signature-of-sporadic-creutzfeldt-jakob-disease
#20
Jaimie Navid, Gregory S Day, Jeremy Strain, Richard J Perrin, Robert C Bucelli, Aylin Dincer, Julie K Wisch, David Soleimani-Meigooni, John C Morris, Tammie L S Benzinger, Beau M Ances
BACKGROUND: Sporadic Creutzfeldt-Jakob disease (sCJD) is a rapidly-progressive neurodegenerative disease caused by an abnormal isoform of the human prion protein. Structural MRI in pathologically-confirmed sCJD patients was compared to cognitively-normal individuals to identify a cortical thickness signature of sCJD. METHODS: This retrospective cross-sectional study compared autopsy-confirmed sCJD patients with dementia (n=11) to age- and sex-matched cognitively normal individuals (n=22)...
February 8, 2019: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
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