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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/28817209/huntington-s-disease-a-clinical-review
#1
Peter McColgan, Sarah J Tabrizi
Huntington's disease (HD) is a fully penetrant neurodegenerative disease caused by a dominantly inherited CAG trinucleotide repeat expansion in the huntingtin gene on chromosome 4. In Western populations HD has a prevalence of 10.6-13.7 individuals per 100,000. It is characterised by cognitive, motor and psychiatric disturbance. At the cellular level mutant huntingtin results in neuronal dysfunction and death through a number of mechanisms, including disruption of proteostasis, transcription and mitochondrial function and direct toxicity of the mutant protein...
August 17, 2017: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/28816394/a-review-of-inflammatory-idiopathic-myopathy-focusing-on-polymyositis
#2
REVIEW
K E N Clark, D A Isenberg
Inflammatory idiopathic myopathies are a group of autoimmune diseases affecting predominantly the proximal skeletal muscles, with raised muscle enzymes, with or without skin involvement and extramuscular organ involvement. Autoantibodies help to characterize patients into different clinical phenotypes. Successful treatment necessitates controlling inflammation early with corticosteroids and invariably requires additional immunosuppressive therapy. This review focuses on the aetiology, pathogenesis, clinical presentation, investigations and management of patients presenting with inflammatory idiopathic myopathies, predominantly focusing on polymyositis and antisynthetase syndrome...
August 17, 2017: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/28816001/plasma-and-cerebrospinal-fluid-tau-and-neurofilament-concentrations-in-rapidly-progressive-neurological-syndromes-a-neuropathology-based-cohort
#3
G G Kovacs, U Andreasson, V Liman, G Regelsberger, M I Lutz, K Danics, E Keller, H Zetterberg, K Blennow
BACKGROUND AND PURPOSE: Cerebrospinal fluid (CSF) tau and neurofilament light chain (NF-L) proteins have proved to be reliable biomarkers for neuronal damage; however, there is a strong need for blood-based tests. METHODS: The present study included 132 autopsy cases with rapidly progressive neurological syndromes, including Alzheimer disease (AD) (21), sporadic (65) and genetic (21) Creutzfeldt-Jakob disease (CJD), 25 cases with vascular, neoplastic and inflammatory alterations, and additionally 18 healthy control individuals...
August 16, 2017: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/28803458/neglect-and-aphasia-in-the-acute-phase-as-predictors-of-functional-outcome-seven-years-after-ischemic-stroke
#4
Joel Gerafi, Hans Samuelsson, Jo I Viken, Charlotte Blomgren, Lisbeth Claesson, Sakari Kallio, Christina Jern, Christian Blomstrand, Katarina Jood
BACKGROUND: Visuospatial inattention (VSI) and language impairment (LI) are often present early after stroke and associations with an unfavorable short-term functional outcome have been reported. The purpose of this study was to investigate if a screening of VSI and of LI as indicators of cortical symptoms early after stroke could predict long-term functional outcomes. METHODS: A consecutive cohort of 375 ischemic stroke patients was assessed for the occurrence of VSI, in median, 7 days after admission (interquartile range 5 days) using Star Cancellation Test (SCT) and for LI (within the first 7 days) with the language item in the Scandinavian Stroke Scale (SSS)...
August 12, 2017: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/28803444/atypical-parkinsonian-syndromes-a-general-neurologist-s-perspective
#5
REVIEW
Angela B Deutschländer, Owen A Ross, Dennis W Dickson, Zbigniew K Wszolek
The differential diagnosis of atypical parkinsonian syndromes is challenging. These severe and often rapidly progressive neurodegenerative disorders are clinically heterogeneous and show significant phenotypic overlap. Here we review clinical, imaging, neuropathologic and genetic features of multiple system atrophy (MSA), progressive supranuclear palsy (PSP), corticobasal degeneration (CBD), and frontotemporal lobar degeneration (FTLD). The terms CBD and FTLD refer to pathologically confirmed cases of corticobasal syndrome (CBS) and frontotemporal dementia (FTD)...
August 12, 2017: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/28800199/intracranial-elastance-is-increased-in-idiopathic-intracranial-hypertension
#6
Jason T Chisholm, Padmaja Sudhakar, Abdulnasser N Alhajeri, Jonathan H Smith
BACKGROUND: To date, no pathophysiologic model has sufficiently accounted for all the findings encountered in patients with idiopathic intracranial hypertension (IIH). Intracranial elastance is an index of volume-buffering capacity known to play a role in certain disorders of CSF dynamics, which has not been previously investigated in relation to IIH patients. METHODS: Single-center retrospective cohort study from July 1, 2011 to July 1, 2016. We collected values for opening pressure (PO ), closing pressure (PC ), volume (V) of CSF removed, as well as demographic and clinical covariates...
August 11, 2017: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/28800173/non-invasive-brain-stimulation-might-act-in-synergy-with-invasive-brain-stimulation-in-dystonia
#7
M Beudel
Dystonia is a disabling disorder for which, in the far majority of cases, no curative treatment is available. Current treatment consists medication, botulinum toxin injections and Deep Brain Stimulation (DBS), which all have their own limitations. This article is protected by copyright. All rights reserved.
August 11, 2017: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/28800170/ischemic-stroke
#8
James F Meschia, Thomas Brott
There are about 25.7 million stroke survivors world-wide. Ischemic stroke remains the most common type of stroke. Numerous modifiable risk factors have been identified, including behaviors like cigarette smoking and sedentary lifestyle and treatable medical comorbidities like hypertension, hyperlipidemia and atrial fibrillation. Once considered irreversible, acute ischemic stroke is now amenable to acute medical and endovascular therapies to reduce infarct volume. Many advances are expected in the years to come, particularly in the areas of prevention and recovery...
August 11, 2017: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/28799683/positron-emission-tomography-imaging-in-gliomas-applications-in-clinical-diagnosis-for-assessment-of-prognosis-and-of-treatment-effects-and-for-detection-of-recurrences
#9
REVIEW
W-D Heiss
Neuroimaging plays a significant role in the diagnosis of intracranial tumours, especially brain gliomas, and must consist of an assessment of location and extent of the tumour and of its biological activity. Therefore, morphological imaging modalities and functional, metabolic or molecular imaging modalities should be combined for primary diagnosis and for following the course and evaluating therapeutic effects. Magnetic resonance imaging (MRI) is the gold standard for providing detailed morphological information and can supply some additional insights into metabolism (MR spectroscopy) and perfusion (perfusion-weighted imaging) but still has limitations in identifying tumour grade, invasive growth into neighbouring tissue and treatment-induced changes, as well as recurrences...
August 11, 2017: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/28799181/the-relationship-between-stroke-severity-and-prior-direct-oral-anticoagulant-therapy-in-patients-with-acute-ischemic-stroke-and-non-valvular-atrial-fibrillation
#10
Yuki Sakamoto, Seiji Okubo, Chikako Nito, Satoshi Suda, Noriko Matsumoto, Arata Abe, Junya Aoki, Takashi Shimoyama, Yohei Takayama, Kentaro Suzuki, Masahiro Mishina, Kazumi Kimura
BACKGROUND: Anticoagulant treatment with a vitamin K antagonist (VKA) has been reported to reduce stroke severity when patients with atrial fibrillation (AF) suffer acute ischemic stroke (AIS). Direct oral anticoagulant (DOAC) therapy also has a potential to reduce the initial severity of AIS. However, the effect of DOAC therapy on the severity of AIS is not well known. The aims of the present study were to investigate the effect of DOACs on initial stroke severity in patients with AIS and non-valvular AF (NVAF)...
August 11, 2017: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/28799222/progression-retinal-ganglion-cell-loss-in-multiple-sclerosis-is-associated-with-new-lesions-in-the-optic-radiations
#11
Alexander Klistorner, Elizabeth C Graham, Con Yiannikas, Michael Barnett, John Parratt, Ray Garrick, Chenyu Wang, Yuyi You, Stuart L Graham
BACKGROUND: The mechanism of retinal ganglion cell (RGC) and retinal nerve fibre layer (RNFL) loss in multiple sclerosis (MS) remains unknown. This study aims to investigate the association between temporal RNFL (tRNFL) thinning and disease activity in the brain determined by T2 lesions on MRI. METHODS: 55 consecutive relapsing-remitting MS (RRMS) patients and 25 controls were enrolled. All patients underwent annual optical coherence tomography (OCT) and high-resolution MRI scans for tRNFL thickness and brain lesion volume analysis, respectively...
August 10, 2017: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/28796376/neuropsychiatric-adverse-events-of-antiepileptic-drugs-in-brain-tumour-related-epilepsy-an-italian-multicentre-prospective-observational-study
#12
C Bedetti, M Romoli, M Maschio, C Di Bonaventura, E Nardi Cesarini, P Eusebi, S Siliquini, S Dispenza, P Calabresi, C Costa
BACKGROUND AND PURPOSE: We assessed the prevalence and magnitude of neuropsychiatric adverse events (NPAEs) associated with antiepileptic drugs (AEDs) among patients with brain tumour-related epilepsy (BTRE). METHODS: This observational, prospective, multicentre study enrolled 259 patients with BTRE after neurosurgery. All patients received AED monotherapy. Efficacy was assessed through clinical diaries, whereas NPAEs were collected using the Neuropsychiatric Inventory Test-12 questionnaire at baseline and after 5 months...
August 10, 2017: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/28782903/non-invasive-brain-stimulation-for-dystonia-therapeutic-implications
#13
REVIEW
R Erro, M Tinazzi, F Morgante, K P Bhatia
Dystonia is characterized by excessive muscle contractions giving rise to abnormal posture and involuntary twisting movements. Although dystonia syndromes are a heterogeneous group of disorders, certain pathophysiological mechanisms have been consistently identified across different forms. These pathophysiological mechanisms have subsequently been exploited for the development of non-invasive brain stimulation (NIBS) techniques able to modulate neural activity in one or more nodes of the putative network that is altered in dystonia, and the therapeutic role of NIBS has hence been suggested...
August 7, 2017: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/28782870/rapid-eye-movement-sleep-behaviour-disorder-and-striatal-dopamine-depletion-in-patients-with-parkinson-s-disease
#14
S J Chung, Y Lee, J J Lee, P H Lee, Y H Sohn
BACKGROUND AND PURPOSE: Rapid eye movement sleep behaviour disorder (RBD) is related to striatal dopamine depletion. This study was performed to confirm whether clinically probable RBD (cpRBD) in patients with Parkinson's disease (PD) is associated with a specific pattern of striatal dopamine depletion. METHODS: A prospective survey was conducted using the RBD Screening Questionnaire (RBDSQ) in 122 patients with PD who had undergone dopamine transporter (DAT) positron emission tomography scan...
August 7, 2017: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/28782864/sex-dependent-effects-of-uric-acid-on-cerebral-microbleed-a-cross-sectional-study-in-the-general-population
#15
S-M Jeong, T G Yoo, Y-S Nam, S H Kim, J E Lee, S Kim, J-S Lim, H-M Kwon, J-H Park
BACKGROUND AND PURPOSE: Elevated serum uric acid (UA) is known to be associated with stroke. However, there is little information on the association between serum UA levels and cerebral microbleed (CMB), a precursor of stroke. Therefore, we investigated the association between UA and CMB in a general population taking into consideration sex-related differences. METHODS: The subjects in this cross-sectional study consisted of 2686 individuals of 40-79 years of age (1403 men and 1283 women) who underwent regular health screenings, including brain magnetic resonance imaging, at Seoul National University Hospital Health Promotion Center...
August 7, 2017: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/28782863/anti-sulfatide-galactocerebroside-antibodies-in-immunoglobulin-m-paraproteinemic-neuropathies
#16
F Boso, S Ruggero, C Giannotta, L Benedetti, G A Marfia, M Ermani, M Campagnolo, A Salvalaggio, F Gallia, C De Michelis, A Visentin, M Bianco, M Ruiz, G Mataluni, E Nobile-Orazio, C Briani
BACKGROUND AND PURPOSE: Anti-sulfatide antibodies have been observed in heterogeneous neuropathies and their clinical relevance is still controversial. Whether the combination of sulfatide with galactocerebroside would increase sensitivity or specificity of enzyme-linked immunosorbent assay testing compared to sulfatide alone was assessed. METHODS: Immunoglobulin M (IgM) antibodies to sulfatides, galactocerebroside and combined sulfatide and galactocerebroside (Sulf/GalC) were measured in 229 neuropathy patients, including 73 with IgM paraproteinemic neuropathy [62 with anti-myelin-associated glycoprotein (anti-MAG) antibody] and 156 with other neuropathies...
August 7, 2017: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/28771897/clinical-and-mutational-spectrum-of-charcot-marie-tooth-disease-type-2z-caused-by-morc2-variants-in-japan
#17
M Ando, Y Okamoto, A Yoshimura, J-H Yuan, Y Hiramatsu, Y Higuchi, A Hashiguchi, J Mitsui, H Ishiura, S Fukumura, M Matsushima, N Ochi, J Tsugawa, S Morishita, S Tsuji, H Takashima
BACKGROUND AND PURPOSE: The microrchidia family CW-type zinc finger 2 gene (MORC2) was newly identified as a causative gene of Charcot-Marie-Tooth disease (CMT) type 2Z in 2016. We aimed to describe the clinical and mutational spectrum of patients with CMT harboring MORC2 mutations in Japan. METHODS: We analyzed samples from 781 unrelated patients clinically diagnosed with CMT using deoxyribonucleic acid microarray or targeted resequencing by next-generation sequencing, and samples from 434 mutation-negative patients were subjected to whole-exome sequencing...
August 3, 2017: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/28762591/ean-consensus-review-on-prevention-diagnosis-and-management-of-tick-borne-encephalitis
#18
REVIEW
P Taba, E Schmutzhard, P Forsberg, I Lutsar, U Ljøstad, Å Mygland, I Levchenko, F Strle, I Steiner
BACKGROUND AND PURPOSE: Tick-borne encephalitis (TBE) is an infection of the central nervous system (CNS) caused by tick-borne encephalitis virus (TBEV) and transmitted by ticks, with a variety of clinical manifestations. The incidence of TBE in Europe is increasing due to an extended season of the infection and the enlargement of endemic areas. Our objectives are to provide recommendations on the prevention, diagnosis and management of TBE, based on evidence or consensus decisions. METHODS: For systematic evaluation, the literature was searched from 1970 to 2015 (including early online publications of 2016), and recommendations were based on evidence or consensus decisions of the Task Force when evidence-based data were not available...
August 1, 2017: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/28762574/a-comparative-study-of-brachial-plexus-sonography-and-magnetic-resonance-imaging-in-chronic-inflammatory-demyelinating-neuropathy-and-multifocal-motor-neuropathy
#19
H S Goedee, B A Jongbloed, J-T H van Asseldonk, J Hendrikse, A F J E Vrancken, H Franssen, S Nikolakopoulos, L H Visser, W L van der Pol, L H van den Berg
BACKGROUND AND PURPOSE: To compare the performance of neuroimaging techniques, i.e. high-resolution ultrasound (HRUS) and magnetic resonance imaging (MRI), when applied to the brachial plexus, as part of the diagnostic work-up of chronic inflammatory demyelinating neuropathy (CIDP) and multifocal motor neuropathy (MMN). METHODS: Fifty-one incident, treatment-naive patients with CIDP (n = 23) or MMN (n = 28) underwent imaging of the brachial plexus using (i) a standardized MRI protocol to assess enlargement or T2 hyperintensity and (ii) bilateral HRUS to determine the extent of nerve (root) enlargement...
August 1, 2017: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/28758318/the-role-of-neurotransmitters-in-the-development-of-parkinson-s-disease-related-psychosis
#20
REVIEW
S A Factor, W M McDonald, F C Goldstein
Psychotic symptoms are common, disabling non-motor features of Parkinson's disease (PD). Despite noted heterogeneity in clinical features, natural history and therapy response, current dogma posits that psychosis generally progresses in a stereotypic manner through a cascade of events that begins with minor hallucinations and evolves to severe hallucinations and delusions. Further, the occurrence of psychotic symptoms is believed to indicate a poor prognosis. Here we propose a classification scheme that outlines the pathogenesis of psychosis as it relates to dysfunction of several neurotransmitter systems...
July 31, 2017: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
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