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Journal of Neurology, Neurosurgery, and Psychiatry

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https://www.readbyqxmd.com/read/30018047/challenges-in-modelling-the-charcot-marie-tooth-neuropathies-for-therapy-development
#1
Manisha Juneja, Joshua Burns, Mario A Saporta, Vincent Timmerman
Much has been achieved in terms of understanding the complex clinical and genetic heterogeneity of Charcot-Marie-Tooth neuropathy (CMT). Since the identification of mutations in the first CMT associated gene, PMP22 , the technological advancement in molecular genetics and gene technology has allowed scientists to generate diverse animal models expressing monogenetic mutations that closely resemble the CMT phenotype. Additionally, one can now culture patient-derived neurons in a dish using cellular reprogramming and differentiation techniques...
July 17, 2018: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/29991490/cladribine-mechanisms-and-mysteries-in-multiple-sclerosis
#2
Benjamin Meir Jacobs, Francesca Ammoscato, Gavin Giovannoni, David Baker, Klaus Schmierer
OBJECTIVES: The aims of this manuscript were to review the evidence for the efficacy and safety of cladribine in multiple sclerosis (MS) and to review the molecular and cellular mechanisms by which cladribine acts as a disease-modifying therapy in MS. METHODS: This is a narrative review of the available clinical and preclinical data on the use of cladribine in MS. RESULTS: Clinical trial data argue strongly that cladribine is a safe and effective therapy for relapsing MS and that it may also be beneficial in progressive MS...
July 10, 2018: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/29986904/unilateral-pallidal-stimulation-for-disabling-dystonia-due-to-rasmussen-s-disease
#3
Mar Carreño, Maria José Martí, Ibán Aldecoa, Celia Painous, Estefanía Conde, Francesc Valldeoriola, Josep Valls-Solé, Núria Bargalló, Francisco Gil, Isabel Manzanares, Xavier Setoain, Antonio Donaire, Esteban Muñoz, Pedro Roldán, Teresa Boget, Luis Pintor, Eva Bailles, Jordi Rumià
OBJECTIVE: To describe an adult patient with Rasmussen's disease with focal dystonia as the most disabling symptom and the good response to unilateral globus pallidus internus (GPi) deep brain stimulation (DBS). METHODS: Retrospective review of clinical records and diagnostic tests. RESULTS: The patient had displayedmild focal seizures with sensory and motor symptoms on the left arm and hemiface since the age of 22. Ten years later she experienced abrupt onset of focal left dystonia involving mainly the leg...
July 9, 2018: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/29986903/relationship-between-consciousness-and-injury-of-ascending-reticular-activating-system-in-patients-with-hypoxic-ischaemic-brain-injury
#4
Sung Ho Jang, Jong Sun Park, Dong Gu Shin, Seong Ho Kim, Min Son Kim
No abstract text is available yet for this article.
July 9, 2018: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/29970387/abortion-induces-reactivation-of-inflammation-in-relapsing-remitting-multiple-sclerosis
#5
Doriana Landi, Paolo Ragonese, Luca Prosperini, Viviana Nociti, Shalom Haggiag, Antonio Cortese, Roberta Fantozzi, Simona Pontecorvo, Elisabetta Ferraro, Maria Chiara Buscarinu, Giorgia Mataluni, Fabrizia Monteleone, Marco Salvetti, Giancarlo Di Battista, Ada Francia, Enrico Millefiorini, Claudio Gasperini, Massimiliano Mirabella, Giuseppe Salemi, Laura Boffa, Carlo Pozzilli, Diego Centonze, Girolama Alessandra Marfia
OBJECTIVE: To investigate clinical and radiological outcomes of women with relapsing-remitting multiple sclerosis (RRMS) undergoing abortion. METHODS: An independent, multicentre retrospective study was conducted collecting data from eight Italian MS centres. We compared the preconception and postabortion annualised relapse rate (ARR) and number of Gadolinium enhancing (Gd+) lesions, by analyses of covariance. Variables associated with postabortion clinical and MRI activity were investigated using Poisson regression models; each abortion was considered as a statistical unit...
July 3, 2018: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/29954873/mutation-screening-of-the-kif5a-gene-in-chinese-patients-with-amyotrophic-lateral-sclerosis
#6
XiaoJing Gu, ChunYu Li, YongPing Chen, QianQian Wei, Bei Cao, RuWei Ou, XiaoQin Yuan, YanBing Hou, LingYu Zhang, Hui Liu, Ying Wu, Wei Song, Bi Zhao, XuePing Chen, Hui-Fang Shang
No abstract text is available yet for this article.
June 28, 2018: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/29954872/acute-eeg-spectra-characteristics-predict-thalamic-atrophy-after-severe-tbi
#7
Caroline Schnakers, Evan S Lutkenhoff, Branden J Bio, David L McArthur, Paul M Vespa, Martin M Monti
No abstract text is available yet for this article.
June 28, 2018: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/29954871/models-for-predicting-risk-of-dementia-a-systematic-review
#8
Xiao-He Hou, Lei Feng, Can Zhang, Xi-Peng Cao, Lan Tan, Jin-Tai Yu
BACKGROUND: Information from well-established dementia risk models can guide targeted intervention to prevent dementia, in addition to the main purpose of quantifying the probability of developing dementia in the future. METHODS: We conducted a systematic review of published studies on existing dementia risk models. The models were assessed by sensitivity, specificity and area under the curve (AUC) from receiver operating characteristic analysis. RESULTS: Of 8462 studies reviewed, 61 articles describing dementia risk models were identified, with the majority of the articles modelling late life risk (n=39), followed by those modelling prediction of mild cognitive impairment to Alzheimer's disease (n=15), mid-life risk (n=4) and patients with diabetes (n=3)...
June 28, 2018: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/29945881/structural-characteristics-of-the-central-nervous-system-in-friedreich-ataxia-an-in-vivo-spinal-cord-and-brain-mri-study
#9
Imis Dogan, Sandro Romanzetti, Claire Didszun, Shahram Mirzazade, Dagmar Timmann, Carsten Saft, Ludger Schöls, Matthis Synofzik, Ilaria A Giordano, Thomas Klockgether, Jörg B Schulz, Kathrin Reetz
No abstract text is available yet for this article.
June 26, 2018: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/29945880/clinical-electrophysiological-and-vegf-2-year-response-after-lenalidomide-or-stem-cell-transplantation-in-patients-with-poems-syndrome
#10
Mariangela Bianco, Fabrizia Terenghi, Francesca Gallia, Andrea Nozza, Antonietta Scarale, Mohammed Zhiad Fayoumi, Claudia Giannotta, Eduardo Nobile-Orazio
No abstract text is available yet for this article.
June 26, 2018: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/29945879/neurofascin-155-igm-autoantibodies-in-patients-with-inflammatory-neuropathies
#11
Kathrin Doppler, Helena Stengel, Luise Appeltshauser, Julian Grosskreutz, Judy King Man Ng, Edgar Meinl, Claudia Sommer
OBJECTIVES: Recently, IgG autoantibodies against different paranodal proteins have been detected and this has led to important advances in the management of inflammatory neuropathies. In contrast, not much is known on IgM autoantibodies against paranodal proteins. METHODS: In the present study, we screened a large cohort of patients (n=140) with inflammatory neuropathies for IgM autoantibodies against neurofascin-155, neurofascin-186 or contactin-1. RESULTS: IgM autoantibodies against neurofascin-155 were detected by ELISA in five patients, four with inflammatory demyelinating polyradiculoneuropathy (CIDP) and one with Guillain-Barré syndrome (GBS), and were confirmed by ELISA-based preabsorption experiments and Western blot...
June 26, 2018: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/29945878/inflammatory-neuropathies-all-shapes-and-sizes
#12
Nidhi Garg, Susanna B Park, Matthew C Kiernan
No abstract text is available yet for this article.
June 26, 2018: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/29929977/less-frequent-rituximab-retreatment-maintains-remission-of-neuromyelitis-optica-spectrum-disorder-following-long-term-rituximab-treatment
#13
Su-Hyun Kim, Yeseul Kim, Gayoung Kim, Na Young Park, Hyun-Min Jang, Hyun-June Shin, Jae-Won Hyun, Ho Jin Kim
No abstract text is available yet for this article.
June 21, 2018: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/29921610/retinal-ganglion-cell-loss-in-neuromyelitis-optica-a-longitudinal-study
#14
Frederike C Oertel, Joachim Havla, Adriana Roca-Fernández, Nathaniel Lizak, Hanna Zimmermann, Seyedamirhosein Motamedi, Nadja Borisow, Owen B White, Judith Bellmann-Strobl, Philipp Albrecht, Klemens Ruprecht, Sven Jarius, Jacqueline Palace, Maria Isabel Leite, Tania Kuempfel, Friedemann Paul, Alexander U Brandt
OBJECTIVES: Neuromyelitis optica spectrum disorders (NMOSD) are inflammatory conditions of the central nervous system and an important differential diagnosis of multiple sclerosis (MS). Unlike MS, the course is usually relapsing, and it is unclear, if progressive neurodegeneration contributes to disability. Therefore, we aimed to investigate if progressive retinal neuroaxonal damage occurs in aquaporin4-antibody-seropositive NMOSD. METHODS: Out of 157 patients with NMOSD screened, 94 eyes of 51 patients without optic neuritis (ON) during follow-up (F/U) and 56 eyes of 28 age-matched and sex-matched healthy controls (HC) were included (median F/U 2...
June 19, 2018: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/29921609/effects-of-multiple-sclerosis-disease-modifying-therapies-on-employment-measures-using-patient-reported-data
#15
Jing Chen, Bruce V Taylor, Leigh Blizzard, Steve Simpson, Andrew J Palmer, Ingrid A F van der Mei
BACKGROUND: The direct comparative evidence on treatment effects of available multiple sclerosis (MS) disease-modifying therapies (DMTs) is limited, and few studies have examined the benefits of DMTs on employment outcomes. We compared the effects of DMTs used in the previous 5 years on improving the work attendance, amount of work and work productivity of people with MS. METHODS: The Australian MS Longitudinal Study collected data from participants on DMTs usage from 2010 to 2015 and whether DMTs contributed to changes in employment outcomes...
June 19, 2018: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/29921608/extending-the-clinical-and-mutational-spectrum-of-trim32-related-myopathies-in-a-non-hutterite-population
#16
Katherine Johnson, Willem De Ridder, Ana Töpf, Marta Bertoli, Lauren Phillips, Peter De Jonghe, Jonathan Baets, Tine Deconinck, Vidosava Rakocevic Stojanovic, Stojan Perić, Hacer Durmus, Shirin Jamal-Omidi, Shahriar Nafissi, Tiziana Mongini, Anna Łusakowska, Mark Busby, James Miller, Fiona Norwood, Judith Hudson, Rita Barresi, Monkol Lek, Daniel G MacArthur, Volker Straub
No abstract text is available yet for this article.
June 19, 2018: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/29909380/schwannomatosis-a-genetic-and-epidemiological-study
#17
D Gareth Evans, Naomi L Bowers, Simon Tobi, Claire Hartley, Andrew J Wallace, Andrew T King, Simon K W Lloyd, Scott A Rutherford, Charlotte Hammerbeck-Ward, Omar N Pathmanaban, Simon R Freeman, John Ealing, Mark Kellett, Roger Laitt, Owen Thomas, Dorothy Halliday, Rosalie Ferner, Amy Taylor, Chris Duff, Elaine F Harkness, Miriam J Smith
OBJECTIVES: Schwannomatosis is a dominantly inherited condition predisposing to schwannomas of mainly spinal and peripheral nerves with some diagnostic overlap with neurofibromatosis-2 (NF2), but the underlying epidemiology is poorly understood. We present the birth incidence and prevalence allowing for overlap with NF2. METHODS: Schwannomatosis and NF2 cases were ascertained from the Manchester region of England (population=4.8 million) and from across the UK. Point prevalence and birth incidence were calculated from regional birth statistics...
June 16, 2018: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/29903905/idiopathic-intracranial-hypertension-consensus-guidelines-on-management
#18
REVIEW
Susan P Mollan, Brendan Davies, Nick C Silver, Simon Shaw, Conor L Mallucci, Benjamin R Wakerley, Anita Krishnan, Swarupsinh V Chavda, Satheesh Ramalingam, Julie Edwards, Krystal Hemmings, Michelle Williamson, Michael A Burdon, Ghaniah Hassan-Smith, Kathleen Digre, Grant T Liu, Rigmor Højland Jensen, Alexandra J Sinclair
The aim was to capture interdisciplinary expertise from a large group of clinicians, reflecting practice from across the UK and further, to inform subsequent development of a national consensus guidance for optimal management of idiopathic intracranial hypertension (IIH). METHODS: Between September 2015 and October 2017, a specialist interest group including neurology, neurosurgery, neuroradiology, ophthalmology, nursing, primary care doctors and patient representatives met. An initial UK survey of attitudes and practice in IIH was sent to a wide group of physicians and surgeons who investigate and manage IIH regularly...
June 14, 2018: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/29891740/study-of-immunotherapy-in-antibody-positive-psychosis-feasibility-and-acceptability-sinapps1
#19
LETTER
Belinda R Lennox, Giuliano Tomei, Sally-Anne Vincent, Ksenija Yeeles, Rebecca Pollard, Emma Palmer-Cooper, Peter Jones, Michael S Zandi, Alasdair Coles
No abstract text is available yet for this article.
June 11, 2018: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/29886429/beyond-the-limbic-system-disruption-and-functional-compensation-of-large-scale-brain-networks-in-patients-with-anti-lgi1-encephalitis
#20
Josephine Heine, Harald Prüss, Ute A Kopp, Florian Wegner, Florian Then Bergh, Thomas Münte, Klaus-Peter Wandinger, Friedemann Paul, Thorsten Bartsch, Carsten Finke
OBJECTIVE: Hippocampal inflammation in anti-LGI1 encephalitis causes memory deficits, seizures and behavioural abnormalities. Recent findings suggest that extralimbic brain areas are additionally affected and that patients also suffer from non-limbic cognitive symptoms. Moreover, up to 60% of patients show no structural MRI abnormalities in the acute disease stage. We therefore investigated whether functional connectivity analyses can identify brain network changes underlying disease-related symptoms...
June 9, 2018: Journal of Neurology, Neurosurgery, and Psychiatry
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