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Journal of Neurology, Neurosurgery, and Psychiatry

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https://www.readbyqxmd.com/read/30409890/epidemiology-of-als-in-korea-using-nationwide-big-data
#1
Kyo Yeon Jun, Jinseok Park, Ki-Wook Oh, Eun Mi Kim, Jong Seok Bae, Inah Kim, Seung Hyun Kim
OBJECTIVE: This study aimed to determine the incidence, prevalence and survival time of Korean patients with amyotrophic lateral sclerosis (ALS) using National Health Insurance Service (NHIS) data. METHODS: Using NHIS data, the Korean nationwide health dataset, we identified patients with motor neuron diseases who were first diagnosed with a KCD-6 code (G12.20-G12.28; modified from ICD-10 codes) between 2011 and 2015. ALS (G12.21 code) epidemiological characteristics, including annual incidence, prevalence, mortality rates and survival time, were analysed and compared with sociodemographic variables...
November 8, 2018: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/30409889/soft-signs-in-movement-disorders-friends-or-foes
#2
Conor Fearon, Alberto J Espay, Anthony E Lang, Timothy Lynch, Davide Martino, Francesca Morgante, Niall P Quinn, Marie Vidailhet, Alfonso Fasano
No abstract text is available yet for this article.
November 8, 2018: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/30409888/evidence-for-increased-completed-suicide-in-first-degree-relatives-of-lrrk2-g2019s-mutation-parkinson-s-disease
#3
Roberto Angel Ortega, Mark Groves, Anat Mirelman, Roy N Alcalay, Deborah Raymond, Sonya Elango, Helen Mejia-Santana, Nir Giladi, Karen Marder, Susan B Bressman, Rachel Saunders-Pullman
No abstract text is available yet for this article.
November 8, 2018: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/30409887/stress-and-functional-neurological-disorders-mechanistic-insights
#4
Roxanne C Keynejad, Thomas Frodl, Richard Kanaan, Carmine Pariante, Markus Reuber, Timothy R Nicholson
At the interface between mind and body, psychiatry and neurology, functional neurological disorder (FND) remains poorly understood. Formerly dominant stress-related aetiological models have been increasingly challenged, in part due to cases without any history of past or recent trauma. In this perspective article, we review current evidence for such models, and how research into the role of traumatic stress in other disorders and the neurobiology of the stress response can inform our mechanistic understanding of FND...
November 8, 2018: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/30389780/the-unintended-consequences-of-nice
#5
Gavin Giovannoni
No abstract text is available yet for this article.
November 2, 2018: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/30389779/models-for-dementia-risk-prediction-so-much-activity-brings-a-need-for-coordination-and-clarity
#6
Craig W Ritchie, Graciela Muniz-Terrera
No abstract text is available yet for this article.
November 2, 2018: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/30389778/early-diagnosis-of-progressive-multifocal-leucoencephalopathy-longitudinal-lesion-evolution
#7
Cristina Scarpazza, Alessio Signori, Luca Prosperini, Maria Pia Sormani, Mirco Cosottini, Ruggero Capra, Simonetta Gerevini
OBJECTIVE: Early diagnosis of natalizumab-related progressive multifocal leucoencephalopathy (NTZ-PML) in multiple sclerosis has been deemed a major priority by the regulatory agencies but has yet to become a reality. The current paper aims to: (1) investigate whether patients with NTZ-PML pass through a prolonged presymptomatic phase with MRI abnormalities, (2) estimate the longitudinal PML lesion volume increase during the presymptomatic phase and (3) estimate the presymptomatic phase length and its impact on therapy duration as a risk stratification parameter...
November 2, 2018: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/30389777/genetic-findings-in-adolescent-and-adult-onset-leukodystrophies-with-hypomyelinating-features
#8
Gabrielle Macaron, Simon Samaan, Jeffrey A Cohen, Yann Nadjar
No abstract text is available yet for this article.
November 2, 2018: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/30385486/expanded-teased-nerve-fibre-pathological-conditions-in-disease-association
#9
Min Xu, Marcus Pinto, Chenjing Sun, Janean K Engelstad, P James Dyck, Peter J Dyck, Christopher J Klein
OBJECTIVE: To describe an expanded teased nerve fibre classification in disease association. METHODS: We reviewed four newly proposed teased nerve fibre types ( Types J-M ): Type J, rope-like fibres; K, fibril-like clumps of osmium positivity; L, cellular debris along and within nerve fibres; M, circular axonal inclusions surrounded by thin myelin. Different clinical pathological entities were studied for these fibre types including chronic inflammatory demyelinating polyradiculoneuropathy (CIDP: N=20); amyloid polyneuropathy (N=20); intraneural B-cell lymphoma (N=20) or adult-onset polyglucosan body disease (APBD: N=6) in comparison with 112 disease controls...
November 1, 2018: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/30385485/new-teased-fibre-definitions-represent-specific-mechanisms-of-neuropathy
#10
Haruki Koike, Masahisa Katsuno, Gen Sobue
No abstract text is available yet for this article.
November 1, 2018: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/30366958/brain-mechanisms-underlying-apathy
#11
Campbell Le Heron, Clay B Holroyd, John Salamone, Masud Husain
The past few decades have seen growing interest in the neuropsychiatric syndrome of apathy, conceptualised as a loss of motivation manifesting as a reduction of goal-directed behaviour. Apathy occurs frequently, and with substantial impact on quality of life, in a broad range of neurological and psychiatric conditions. Apathy is also consistently associated with neuroimaging changes in specific medial frontal cortex and subcortical structures, suggesting that disruption of a common systems-level mechanism may underlie its development, irrespective of the condition that causes it...
October 26, 2018: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/30361298/therapeutic-trial-design-for-frontotemporal-dementia-and-related-disorders
#12
Philippe Desmarais, Jonathan D Rohrer, Quoc Dinh Nguyen, Nathan Herrmann, Donald T Stuss, Anthony E Lang, Adam L Boxer, Bradford C Dickerson, Howie Rosen, John Cornelis van Swieten, Lieke H Meeter, Barbara Borroni, Maria Carmela Tartaglia, Howard H Feldman, Sandra E Black, Mario Masellis
The frontotemporal dementia (FTD) spectrum is a heterogeneous group of neurodegenerative syndromes with overlapping clinical, molecular and pathological features, all of which challenge the design of clinical trials in these conditions. To date, no pharmacological interventions have been proven effective in significantly modifying the course of these disorders. This study critically reviews the construct and methodology of previously published randomised controlled trials (RCTs) in FTD spectrum disorders in order to identify limitations and potential reasons for negative results...
October 25, 2018: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/30361297/impulse-control-disorders-in-parkinson-s-disease-a-hard-turning-point
#13
Juan Carlos Martinez-Castrillo
No abstract text is available yet for this article.
October 25, 2018: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/30361296/behavioural-and-trait-changes-in-parkinsonian-patients-with-impulse-control-disorder-after-switching-from-dopamine-agonist-to-levodopa-therapy-results-of-rein-pd-trial
#14
Jee-Young Lee, Beomseok Jeon, Seong-Beom Koh, Won Tae Yoon, Ho-Won Lee, Oh Dae Kwon, Jae Woo Kim, Jong-Min Kim, Hyeo-Il Ma, Hee-Tae Kim, Jong Sam Baik, Jinwhan Cho
OBJECTIVE: In this multicentre open-label trial, we compared behavioural and neuropsychiatric symptoms in Parkinson's disease (PD) patients with impulse control disorders (ICD) treated with dopamine agonists before and 12 weeks after substituting dopamine agonists with an equivalent dose of levodopa/carbidopa slow-release formulation. METHODS: Baseline characteristics of 50 PD patients with ICD were compared with those of 60 medicated and 40 drug-naive PD control groups...
October 25, 2018: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/30361295/neurite-orientation-and-dispersion-density-imaging-noddi-detects-cortical-and-corticospinal-tract-degeneration-in-als
#15
Rebecca J Broad, Matt C Gabel, Nicholas G Dowell, David J Schwartzman, Anil K Seth, Hui Zhang, Daniel C Alexander, Mara Cercignani, P Nigel Leigh
BACKGROUND: Corticospinal tract (CST) degeneration and cortical atrophy are consistent features of amyotrophic lateral sclerosis (ALS). We hypothesised that neurite orientation dispersion and density imaging (NODDI), a multicompartment model of diffusion MRI, would reveal microstructural changes associated with ALS within the CST and precentral gyrus (PCG) 'in vivo'. METHODS: 23 participants with sporadic ALS and 23 healthy controls underwent diffusion MRI. Neurite density index (NDI), orientation dispersion index (ODI) and free water fraction (isotropic compartment (ISO)) were derived...
October 25, 2018: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/30355609/epilepsy-surgery-at-its-best-randomised-prospective-controlled-trials-in-neurosurgery-are-no-magic
#16
Peter C Warnke
No abstract text is available yet for this article.
October 24, 2018: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/30355608/what-does-age-at-onset-in-als-tell-us-about-the-genetic-basis-of-the-disease
#17
Jan Herman Veldink
No abstract text is available yet for this article.
October 24, 2018: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/30355607/neurite-density-is-reduced-in-the-presymptomatic-phase-of-c9orf72-disease
#18
Junhao Wen, Hui Zhang, Daniel C Alexander, Stanley Durrleman, Alexandre Routier, Daisy Rinaldi, Marion Houot, Philippe Couratier, Didier Hannequin, Florence Pasquier, Jiaying Zhang, Olivier Colliot, Isabelle Le Ber, Anne Bertrand
OBJECTIVE: To assess the added value of neurite orientation dispersion and density imaging (NODDI) compared with conventional diffusion tensor imaging (DTI) and anatomical MRI to detect changes in presymptomatic carriers of chromosome 9 open reading frame 72 ( C9orf72 ) mutation. METHODS: The PREV-DEMALS (Predict to Prevent Frontotemporal Lobar Degeneration and Amyotrophic Lateral Sclerosis) study is a prospective, multicentre, observational study of first-degree relatives of individuals carrying the C9orf72 mutation...
October 24, 2018: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/30355606/prion-related-peripheral-neuropathy-in-sporadic-creutzfeldt-jakob-disease
#19
Simone Baiardi, Veronica Redaelli, Paolo Ripellino, Marcello Rossi, Alessia Franceschini, Maurizio Moggio, Patrizia Sola, Anna Ladogana, Paolo Fociani, Anna Magherini, Sabina Capellari, Armin Giese, Byron Caughey, Paola Caroppo, Piero Parchi
OBJECTIVE: To assess whether the involvement of the peripheral nervous system (PNS) belongs to the phenotypic spectrum of sporadic Creutzfeldt-Jakob disease (sCJD). METHODS: We examined medical records of 117 sCJDVV2 (ataxic type), 65 sCJDMV2K (kuru-plaque type) and 121 sCJDMM(V)1 (myoclonic type) subjects for clinical symptoms, objective signs and neurophysiological data. We reviewed two diagnostic nerve biopsies and looked for abnormal prion protein (PrPSc ) by western blotting and real-time quaking-induced conversion (RT-QuIC) in postmortem PNS samples from 14 subjects...
October 24, 2018: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/30355605/burden-of-rare-variants-in-causative-genes-for-amyotrophic-lateral-sclerosis-als-accelerates-age-at-onset-of-als
#20
Hiroya Naruse, Hiroyuki Ishiura, Jun Mitsui, Yuji Takahashi, Takashi Matsukawa, Masaki Tanaka, Koichiro Doi, Jun Yoshimura, Shinichi Morishita, Jun Goto, Tatsushi Toda, Shoji Tsuji
OBJECTIVES: To evaluate the burden of rare variants in the causative genes for amyotrophic lateral sclerosis (ALS) on the age at onset of ALS in a Japanese case series. METHODS: We conducted whole-exome sequencing analysis of 89 families with familial ALS (FALS) and 410 patients with sporadic ALS (SALS) to identify known pathogenic mutations or rare functionally predicted deleterious variants in the causative genes for ALS. Rare variants (minor allele frequency <1%) with scaled Combined Annotation-Dependent Depletion score >20 were defined as rare functionally predicted deleterious variants...
October 24, 2018: Journal of Neurology, Neurosurgery, and Psychiatry
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