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JAMA Neurology

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https://www.readbyqxmd.com/read/28806457/neurodevelopmental-disorders-caused-by-de-novo-variants-in-kcnb1-genotypes-and-phenotypes
#1
Carolien G F de Kovel, Steffen Syrbe, Eva H Brilstra, Nienke Verbeek, Bronwyn Kerr, Holly Dubbs, Allan Bayat, Sonal Desai, Sakkubai Naidu, Siddharth Srivastava, Hande Cagaylan, Uluc Yis, Carol Saunders, Martin Rook, Susanna Plugge, Hiltrud Muhle, Zaid Afawi, Karl-Martin Klein, Vijayakumar Jayaraman, Ramakrishnan Rajagopalan, Ethan Goldberg, Eric Marsh, Sudha Kessler, Christina Bergqvist, Laura K Conlin, Bryan L Krok, Isabelle Thiffault, Manuela Pendziwiat, Ingo Helbig, Tilman Polster, Ingo Borggraefe, Johannes R Lemke, Marie-José van den Boogaardt, Rikke S Møller, Bobby P C Koeleman
Importance: Knowing the range of symptoms seen in patients with a missense or loss-of-function variant in KCNB1 and how these symptoms correlate with the type of variant will help clinicians with diagnosis and prognosis when treating new patients. Objectives: To investigate the clinical spectrum associated with KCNB1 variants and the genotype-phenotype correlations. Design, Setting, and Participants: This study summarized the clinical and genetic information of patients with a presumed pathogenic variant in KCNB1...
August 14, 2017: JAMA Neurology
https://www.readbyqxmd.com/read/28806454/the-expanding-spectrum-of-zika-virus-infections-of-the-nervous-system
#2
Kenneth L Tyler, Karen L Roos
No abstract text is available yet for this article.
August 14, 2017: JAMA Neurology
https://www.readbyqxmd.com/read/28806453/neurologic-complications-associated-with-the-zika-virus-in-brazilian-adults
#3
Ivan Rocha Ferreira da Silva, Jennifer A Frontera, Ana Maria Bispo de Filippis, Osvaldo Jose Moreira do Nascimento
Importance: There are no prospective cohort studies assessing the incidence and spectrum of neurologic manifestations secondary to Zika virus (ZIKV) infection in adults. Objective: To evaluate the rates of acute ZIKV infection among patients hospitalized with Guillain-Barré syndrome (GBS), meningoencephalitis, or transverse myelitis. Design, Setting, and Participants: A prospective, observational cohort study was conducted at a tertiary referral center for neurological diseases in Rio de Janeiro, Brazil, between December 5, 2015, and May 10, 2016, among consecutive hospitalized adults (>18 years of age) with new-onset acute parainfectious or neuroinflammatory disease...
August 14, 2017: JAMA Neurology
https://www.readbyqxmd.com/read/28806439/hazards-of-neurological-nomenclature-observations-from-neurodevelopmental-and-neurodegenerative-disorders
#4
Rahul S Desikan, A James Barkovich
No abstract text is available yet for this article.
August 14, 2017: JAMA Neurology
https://www.readbyqxmd.com/read/28806435/light-therapy-promoting-dopamine-release-by-stimulating-retina-in-parkinson-disease
#5
Zhaoming Li, Tian Tian
No abstract text is available yet for this article.
August 14, 2017: JAMA Neurology
https://www.readbyqxmd.com/read/28806434/light-therapy-promoting-dopamine-release-by-stimulating-retina-in-parkinson-disease-reply
#6
Aleksandar Videnovic, Elizabeth B Klerman, Phyllis C Zee
No abstract text is available yet for this article.
August 14, 2017: JAMA Neurology
https://www.readbyqxmd.com/read/28806433/incorrect-number-in-figure
#7
(no author information available yet)
No abstract text is available yet for this article.
August 14, 2017: JAMA Neurology
https://www.readbyqxmd.com/read/28783818/patient-care-is-all-about-stories
#8
Louis R Caplan
No abstract text is available yet for this article.
August 7, 2017: JAMA Neurology
https://www.readbyqxmd.com/read/28783817/associations-between-midlife-vascular-risk-factors-and-25-year-incident-dementia-in-the-atherosclerosis-risk-in-communities-aric-cohort
#9
Rebecca F Gottesman, Marilyn S Albert, Alvaro Alonso, Laura H Coker, Josef Coresh, Sonia M Davis, Jennifer A Deal, Guy M McKhann, Thomas H Mosley, A Richey Sharrett, Andrea L C Schneider, B Gwen Windham, Lisa M Wruck, David S Knopman
Importance: Vascular risk factors have been associated with cognitive decline. Midlife exposure to these factors may be most important in conferring late-life risk of cognitive impairment. Objectives: To examine Atherosclerosis Risk in Communities (ARIC) participants in midlife and to explore associations between midlife vascular risk factors and 25-year dementia incidence. Design, Setting, and Participants: This prospective cohort investigation of the Atherosclerosis Risk in Communities (ARIC) Study was conducted from 1987-1989 through 2011-2013...
August 7, 2017: JAMA Neurology
https://www.readbyqxmd.com/read/28783808/recrudescence-of-deficits-after-stroke-clinical-and-imaging-phenotype-triggers-and-risk-factors
#10
Mehmet A Topcuoglu, Esen Saka, Scott B Silverman, Lee H Schwamm, Aneesh B Singhal
Importance: Reemergence of previous stroke-related deficits (or poststroke recrudescence [PSR]) is an underrecognized and inadequately characterized phenomenon. Objective: To investigate the clinical features, triggers, and risk factors for PSR. Design, Setting, and Participants: This retrospective study incorporated a crossover cohort study to identify triggers and a case-control study to identify risk factors. The study used the Massachusetts General Hospital Research Patient Data Repository to identify patients for the period January 1, 2000, to November 30, 2015, who had a primary or secondary diagnosis of cerebrovascular disease, who underwent magnetic resonance imaging of the brain at least once, and whose inpatient or outpatient clinician note or discharge summary stated the term recrudescence...
August 7, 2017: JAMA Neurology
https://www.readbyqxmd.com/read/28783804/increasing-public-health-awareness-of-and-capacity-for-arts-based-therapy-in-medicine
#11
Waqas Ullah Khan, Hilary Moss
No abstract text is available yet for this article.
August 7, 2017: JAMA Neurology
https://www.readbyqxmd.com/read/28759684/impact-of-birth-place-and-geographic-location-on-risk-disparities-in-cerebrovascular-disease-implications-for-future-research
#12
Daniel T Lackland
No abstract text is available yet for this article.
July 31, 2017: JAMA Neurology
https://www.readbyqxmd.com/read/28759682/contemporary-legal-updates-to-the-definition-of-brain-death-in-nevada
#13
Ariane Lewis
No abstract text is available yet for this article.
July 31, 2017: JAMA Neurology
https://www.readbyqxmd.com/read/28759666/association-of-genetic-predisposition-with-solitary-schwannoma-or-meningioma-in-children-and-young-adults
#14
Omar N Pathmanaban, Katherine V Sadler, Ian D Kamaly-Asl, Andrew T King, Scott A Rutherford, Charlotte Hammerbeck-Ward, Martin G McCabe, John-Paul Kilday, Christian Beetz, Nicola K Poplawski, D Gareth Evans, Miriam J Smith
Importance: Meningiomas and schwannomas are usually sporadic, isolated tumors occurring in adults older than 60 years and are rare in children and young adults. Multiple schwannomas and/or meningiomas are more frequently associated with a tumor suppressor syndrome and, accordingly, trigger genetic testing, whereas solitary tumors do not. Nevertheless, apparently sporadic tumors in young patients may herald a genetic syndrome. Objective: To determine the frequency of the known heritable meningioma- or schwannoma-predisposing mutations in children and young adults presenting with a solitary meningioma or schwannoma...
July 31, 2017: JAMA Neurology
https://www.readbyqxmd.com/read/28759663/association-between-birth-in-a-high-stroke-mortality-state-race-and-risk-of-dementia
#15
Paola Gilsanz, Elizabeth Rose Mayeda, M Maria Glymour, Charles P Quesenberry, Rachel A Whitmer
Importance: Birth in a group of predominantly southern US states is robustly linked to increased stroke risk. Given the role of cerebrovascular disease in dementia risk, geographic patterning may also occur for dementia incidence. Objective: To determine whether birth in 9 high stroke mortality states (HSMSs) is associated with dementia in a diverse cohort of individuals living in Northern California. Design, Setting, and Participants: An observational cohort study included 7423 members of Kaiser Permanente Northern California (KPNC), an integrated health care delivery system, with health survey and clinical examination data available...
July 31, 2017: JAMA Neurology
https://www.readbyqxmd.com/read/28738129/nontraditional-diagnoses-in-minority-populations-white-disease-brown-body
#16
Isra Ahmad
No abstract text is available yet for this article.
July 24, 2017: JAMA Neurology
https://www.readbyqxmd.com/read/28738127/early-onset-alzheimer-disease-and-candidate-risk-genes-involved-in-endolysosomal-transport
#17
Brian W Kunkle, Badri N Vardarajan, Adam C Naj, Patrice L Whitehead, Sophie Rolati, Susan Slifer, Regina M Carney, Michael L Cuccaro, Jeffery M Vance, John R Gilbert, Li-San Wang, Lindsay A Farrer, Christiane Reitz, Jonathan L Haines, Gary W Beecham, Eden R Martin, Gerard D Schellenberg, Richard P Mayeux, Margaret A Pericak-Vance
Importance: Mutations in APP, PSEN1, and PSEN2 lead to early-onset Alzheimer disease (EOAD) but account for only approximately 11% of EOAD overall, leaving most of the genetic risk for the most severe form of Alzheimer disease unexplained. This extreme phenotype likely harbors highly penetrant risk variants, making it primed for discovery of novel risk genes and pathways for AD. Objective: To search for rare variants contributing to the risk for EOAD. Design, Setting, and Participants: In this case-control study, whole-exome sequencing (WES) was performed in 51 non-Hispanic white (NHW) patients with EOAD (age at onset <65 years) and 19 Caribbean Hispanic families previously screened as negative for established APP, PSEN1, and PSEN2 causal variants...
July 24, 2017: JAMA Neurology
https://www.readbyqxmd.com/read/28738126/comparing-plasma-phospho-tau-total-tau-and-phospho-tau-total-tau-ratio-as-acute-and-chronic-traumatic-brain-injury-biomarkers
#18
Richard Rubenstein, Binggong Chang, John K Yue, Allen Chiu, Ethan A Winkler, Ava M Puccio, Ramon Diaz-Arrastia, Esther L Yuh, Pratik Mukherjee, Alex B Valadka, Wayne A Gordon, David O Okonkwo, Peter Davies, Sanjeev Agarwal, Fan Lin, George Sarkis, Hamad Yadikar, Zhihui Yang, Geoffrey T Manley, Kevin K W Wang, Shelly R Cooper, Kristen Dams-O'Connor, Allison J Borrasso, Tomoo Inoue, Andrew I R Maas, David K Menon, David M Schnyer, Mary J Vassar
Importance: Annually in the United States, at least 3.5 million people seek medical attention for traumatic brain injury (TBI). The development of therapies for TBI is limited by the absence of diagnostic and prognostic biomarkers. Microtubule-associated protein tau is an axonal phosphoprotein. To date, the presence of the hypophosphorylated tau protein (P-tau) in plasma from patients with acute TBI and chronic TBI has not been investigated. Objective: To examine the associations between plasma P-tau and total-tau (T-tau) levels and injury presence, severity, type of pathoanatomic lesion (neuroimaging), and patient outcomes in acute and chronic TBI...
July 24, 2017: JAMA Neurology
https://www.readbyqxmd.com/read/28738117/shining-laser-light-on-traumatic-brain-injury-blood-biomarkers
#19
Lee E Goldstein, Ann C McKee
No abstract text is available yet for this article.
July 24, 2017: JAMA Neurology
https://www.readbyqxmd.com/read/28738114/i-spy-2-breast-cancer-trial-as-a-model-for-innovation-in-alzheimer-disease-therapies
#20
Mindi F Messmer, Erin E Wilhelm, Ira Shoulson
No abstract text is available yet for this article.
July 24, 2017: JAMA Neurology
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