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Journal of Neurology, Neurosurgery, and Psychiatry

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https://www.readbyqxmd.com/read/28073817/paranodal-dissection-in-chronic-inflammatory-demyelinating-polyneuropathy-with-antineurofascin-155-and-anticontactin-1-antibodies
#1
Haruki Koike, Masato Kadoya, Ken-Ichi Kaida, Shohei Ikeda, Yuichi Kawagashira, Masahiro Iijima, Daisuke Kato, Hidenori Ogata, Ryo Yamasaki, Noriyuki Matsukawa, Jun-Ichi Kira, Masahisa Katsuno, Gen Sobue
OBJECTIVE: To investigate the morphological features of chronic inflammatory demyelinating polyneuropathy (CIDP) with autoantibodies directed against paranodal junctional molecules, particularly focusing on the fine structures of the paranodes. METHODS: We assessed sural nerve biopsy specimens obtained from 9 patients with CIDP with antineurofascin-155 antibodies and 1 patient with anticontactin-1 antibodies. 13 patients with CIDP without these antibodies were also examined to compare pathological findings...
January 10, 2017: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/28069879/treating-clinically-isolated-syndrome-the-long-game
#2
EDITORIAL
Jeremy Chataway
No abstract text is available yet for this article.
January 9, 2017: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/28057713/genetic-epidemiology-of-amyotrophic-lateral-sclerosis-a-systematic-review-and-meta-analysis
#3
Zhang-Yu Zou, Zhi-Rui Zhou, Chun-Hui Che, Chang-Yun Liu, Rao-Li He, Hua-Pin Huang
BACKGROUND: Genetic studies have shown that C9orf72, SOD1, TARDBP and FUS are the most common mutated genes in amyotrophic lateral sclerosis (ALS). Here, we performed a meta-analysis to determine the mutation frequencies of these major ALS-related genes in patients with ALS. METHODS: We performed an extensive literature research to identify all original articles reporting frequencies of C9orf72, SOD1, TARDBP and FUS mutations in ALS. The mutation frequency and effect size of each study were combined...
January 5, 2017: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/28039320/modulation-of-cortical-excitability-to-normalise-brain-function-and-improve-cognition-in-multiple-sclerosis
#4
EDITORIAL
Maria A Rocca, Massimo Filippi
No abstract text is available yet for this article.
December 30, 2016: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/28039319/new-ideas-on-the-als-functional-rating-scale
#5
EDITORIAL
Michael Swash
No abstract text is available yet for this article.
December 30, 2016: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/28039318/a-quantitative-meta-analysis-of-olfactory-dysfunction-in-mild-cognitive-impairment
#6
David R Roalf, Madelyn J Moberg, Bruce I Turetsky, Laura Brennan, Sushila Kabadi, David A Wolk, Paul J Moberg
BACKGROUND: The connection between Alzheimer's disease (AD) and olfactory deficits is well documented and further, alterations in olfactory functioning may signal declines in functions associated with dementia. The aim of the present comprehensive meta-analysis was to investigate the nature of olfactory deficits in mild cognitive impairment (MCI). METHODS: Articles were identified through computerised literature search from inception to 30 June 2016 using PubMed, MEDLINE and PsychInfo databases...
December 30, 2016: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/28039317/subcutaneous-interferon-%C3%AE-1a-in-the-treatment-of-clinically-isolated-syndromes-3-year-and-5-year-results-of-the-phase-iii-dosing-frequency-blind-multicentre-reflexion-study
#7
Giancarlo Comi, Nicola De Stefano, Mark S Freedman, Frederik Barkhof, Bernard M J Uitdehaag, Marlieke de Vos, Kurt Marhardt, Liang Chen, Delphine Issard, Ludwig Kappos
OBJECTIVE: Early treatment following a first clinical demyelinating event (FCDE) delays further disease activity in patients with multiple sclerosis (MS). This study determined the effects of early versus delayed treatment (DT) with subcutaneous interferon (sc IFN) β-1a 44 μg in patients with an FCDE up to 60 months postrandomisation. METHODS: Patients who completed the 24-month double-blind REFLEX (REbif FLEXible dosing in early MS) study entered an extension (REFLEXION, REbif FLEXible dosing in early MS extensION): patients initially randomised to sc IFN β-1a and not reaching clinically definite MS (clinically definite MS, CDMS (second attack or sustained Expanded Disability Status Scale (EDSS) score increase)) continued original treatment (three times weekly (tiw) or once weekly (qw)); placebo patients switched to tiw (DT); patients with CDMS switched to tiw...
December 30, 2016: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/28039316/newer-epilepsy-surgeries
#8
EDITORIAL
Michael Samuel, Richard Selway
No abstract text is available yet for this article.
December 30, 2016: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/28003344/differentiating-lower-motor-neuron-syndromes
#9
REVIEW
Nidhi Garg, Susanna B Park, Steve Vucic, Con Yiannikas, Judy Spies, James Howells, William Huynh, José M Matamala, Arun V Krishnan, John D Pollard, David R Cornblath, Mary M Reilly, Matthew C Kiernan
Lower motor neuron (LMN) syndromes typically present with muscle wasting and weakness and may arise from pathology affecting the distal motor nerve up to the level of the anterior horn cell. A variety of hereditary causes are recognised, including spinal muscular atrophy, distal hereditary motor neuropathy and LMN variants of familial motor neuron disease. Recent genetic advances have resulted in the identification of a variety of disease-causing mutations. Immune-mediated disorders, including multifocal motor neuropathy and variants of chronic inflammatory demyelinating polyneuropathy, account for a proportion of LMN presentations and are important to recognise, as effective treatments are available...
December 21, 2016: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/27986830/subtle-motor-disturbances-in-predict-pd-participants
#10
Alastair J Noyce, Anette Schrag, Joseph M Masters, Jonathan P Bestwick, Gavin Giovannoni, Andrew J Lees
OBJECTIVE: The PREDICT-PD study aims to identify increased risk of Parkinson''s disease (PD) using online assessments of previously identified risk and early features of PD and an evidence-based scoring algorithm. We sought to determine whether higher risk participants (defined as those above the 15th centile of risk estimates) were more likely to have mild parkinsonian signs compared with lower risk participants. METHODS: Video recordings of neurological examinations, including the Movement Disorder Society Unified Parkinson's Disease Rating Scale (MDS-UPDRS) part III, of 208 individuals who had previously completed an online risk assessment were scored blindly and independently by two movement-disorders experts...
December 16, 2016: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/27986829/examiner-manoeuvres-sensory-tricks-in-functional-psychogenic-movement-disorders
#11
LETTER
José Fidel Baizabal-Carvallo, Joseph Jankovic
No abstract text is available yet for this article.
December 16, 2016: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/27974394/rtms-affects-working-memory-performance-brain-activation-and-functional-connectivity-in-patients-with-multiple-sclerosis
#12
H E Hulst, T Goldschmidt, M A Nitsche, S J de Wit, O A van den Heuvel, F Barkhof, W Paulus, Y D van der Werf, J J G Geurts
OBJECTIVE: To investigate the effects of high-frequency repetitive transcranial magnetic stimulation (rTMS) of the right dorsolateral prefrontal cortex (DLPFC) on working memory performance, while measuring task-related brain activation and task-related brain connectivity in patients with multiple sclerosis (MS). METHODS: 17 patients with MS and 11 healthy controls (HCs) underwent 3 experimental sessions (baseline, real-rTMS, sham-rTMS), all including an N-back task (3 task loads: N1, N2, N3; control condition: N0) inside the MR scanner...
December 14, 2016: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/27965397/rem-sleep-behaviour-disorder-prodromal-and-mechanistic-insights-for-parkinson-s-disease
#13
REVIEW
Anand Tekriwal, Drew S Kern, Jean Tsai, Nuri F Ince, Jianping Wu, John A Thompson, Aviva Abosch
Rapid eye movement (REM) sleep behaviour disorder (RBD) is characterised by complex motor enactment of dreams and is a potential prodromal marker of Parkinson's disease (PD). Of note, patients with PD observed during RBD episodes exhibit improved motor function, relative to baseline states during wake periods. Here, we review recent epidemiological and mechanistic findings supporting the prodromal value of RBD for PD, incorporating clinical and electrophysiological studies. Explanations for the improved motor function during RBD episodes are evaluated in light of recent publications...
December 13, 2016: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/27965396/the-tough-body-at-the-epicentre-of-amyotrophic-lateral-sclerosis
#14
EDITORIAL
Martin R Turner, Ricarda A L Menke
No abstract text is available yet for this article.
December 13, 2016: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/27965395/causes-of-progressive-cerebellar-ataxia-prospective-evaluation-of-1500-patients
#15
M Hadjivassiliou, J Martindale, P Shanmugarajah, R A Grünewald, P G Sarrigiannis, N Beauchamp, K Garrard, R Warburton, D S Sanders, D Friend, S Duty, J Taylor, N Hoggard
BACKGROUND: Cerebellar ataxias are the result of diverse disease processes that can be genetic or acquired. Establishing a diagnosis requires a methodical approach with expert clinical evaluation and investigations. We describe the causes of ataxia in 1500 patients with cerebellar ataxia. METHODS: All patients were referred to the Sheffield Ataxia Centre, UK, and underwent extensive investigations, including, where appropriate genetic testing using next-generation sequencing (NGS)...
December 13, 2016: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/27927702/bedside-cerebral-microdialysis-monitoring-of-delayed-cerebral-hypoperfusion-in-comatose-patients-with-poor-grade-aneurysmal-subarachnoid-haemorrhage
#16
Camille Patet, Hervé Quintard, Jean-Baptiste Zerlauth, Thomas Maibach, Laurent Carteron, Tamarah Suys, Pierre Bouzat, David Bervini, Marc Levivier, Roy T Daniel, Philippe Eckert, Reto Meuli, Mauro Oddo
BACKGROUND: Delayed cerebral ischaemia (DCI) is frequent after poor grade aneurysmal subarachnoid haemorrhage (SAH). Owing to the limited accuracy of clinical examination, DCI diagnosis is often based on multimodal monitoring. We examined the value of cerebral microdialysis (CMD) in this setting. METHODS: 20 comatose SAH participants underwent CMD monitoring-for hourly sampling of cerebral extracellular lactate/pyruvate ratio (LPR) and glucose-and brain perfusion CT (PCT)...
December 7, 2016: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/27913627/aberrant-interhemispheric-homotopic-functional-and-structural-connectivity-in-amyotrophic-lateral-sclerosis
#17
Jiuquan Zhang, Bing Ji, Jun Hu, Chaoyang Zhou, Longchuan Li, Zhihao Li, Xuequan Huang, Xiaoping Hu
OBJECTIVE: Amyotrophic lateral sclerosis (ALS) is an idiopathic and fatal neurodegenerative disease of the human motor system. While microstructural alterations in corpus callosum (CC) have been identified as a consistent feature of ALS, studies directly examining interhemispheric neural connectivity are still lacking. To shed more light on the pathophysiology of ALS, the present study aims to examine alterations of interhemispheric structural and functional connectivity in individuals with ALS...
December 2, 2016: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/27913626/ring-enhancing-spinal-cord-lesions-in-neuromyelitis-optica-spectrum-disorders
#18
Nicholas L Zalewski, Padraig P Morris, Brian G Weinshenker, Claudia F Lucchinetti, Yong Guo, Sean J Pittock, Karl N Krecke, Timothy J Kaufmann, Dean M Wingerchuk, Neeraj Kumar, Eoin P Flanagan
OBJECTIVE: We assessed the frequency and characteristics of ring-enhancing spinal cord lesions in neuromyelitis optica spectrum disorder (NMOSD) myelitis and myelitis of other cause. METHODS: We reviewed spinal cord MRIs for ring-enhancing lesions from 284 aquaporin-4 (AQP4)-IgG seropositive patients at Mayo Clinic from 1996 to 2014. Inclusion criteria were as follows: (1) AQP4-IgG seropositivity, (2) myelitis attack and (3) MRI spinal cord demonstrating ring-enhancement...
December 2, 2016: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/27919056/autoimmune-choreas
#19
REVIEW
Francisco Cardoso
Chorea, a movement disorder characterised by a continuous flow of unpredictable muscle contractions, has a myriad of genetic and non-genetic causes. Although autoimmune processes are rare aetiology of chorea, they are relevant both for researchers and clinicians. The aim of this article is to provide a review of the epidemiology, clinical and laboratory features, pathogenesis and management of the most common autoimmune causes of chorea. Emphasis is given particularly to Sydenham's chorea, systemic lupus erythematosus, primary antiphospolipid antibody syndrome, paraneoplastic chorea and anti-N-methyl-d-aspartate receptor encephalitis...
December 1, 2016: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/27899424/genetic-architecture-of-sporadic-frontotemporal-dementia-and-overlap-with-alzheimer-s-and-parkinson-s-diseases
#20
Raffaele Ferrari, Yunpeng Wang, Jana Vandrovcova, Sebastian Guelfi, Aree Witeolar, Celeste M Karch, Andrew J Schork, Chun C Fan, James B Brewer, Parastoo Momeni, Gerard S Schellenberg, William P Dillon, Leo P Sugrue, Christopher P Hess, Jennifer S Yokoyama, Luke W Bonham, Gil D Rabinovici, Bruce L Miller, Ole A Andreassen, Anders M Dale, John Hardy, Rahul S Desikan
BACKGROUND: Clinical, pathological and genetic overlap between sporadic frontotemporal dementia (FTD), Alzheimer's disease (AD) and Parkinson's disease (PD) has been suggested; however, the relationship between these disorders is still not well understood. Here we evaluated genetic overlap between FTD, AD and PD to assess shared pathobiology and identify novel genetic variants associated with increased risk for FTD. METHODS: Summary statistics were obtained from the International FTD Genomics Consortium, International PD Genetics Consortium and International Genomics of AD Project (n>75 000 cases and controls)...
November 29, 2016: Journal of Neurology, Neurosurgery, and Psychiatry
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